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  1. Article ; Online: The effect of different recall periods on estimates of acute gastroenteritis in the United States, FoodNet Population Survey 2006–2007.

    Cantwell, Laura B / Henao, Olga L / Hoekstra, Robert M / Scallan, Elaine

    Foodborne pathogens and disease

    2010  Volume 7, Issue 10, Page(s) 1225–1228

    Abstract: Background: A number of countries have estimated the prevalence of acute gastroenteritis by asking survey respondents to recall past episodes of diarrhea; however, the recall period used varies between studies. We conducted a survey to examine the ... ...

    Abstract Background: A number of countries have estimated the prevalence of acute gastroenteritis by asking survey respondents to recall past episodes of diarrhea; however, the recall period used varies between studies. We conducted a survey to examine the effects of 7-day and 1-month recall periods on the estimated annual episodes of acute gastroenteritis. Further, we examine whether asking first about illness in the previous 7 days affects a person's response to a 1-month recall period.
    Methods: The Foodborne Diseases Active Surveillance Network (FoodNet) conducted a population-based telephone survey that included asking respondents about the occurrence of gastrointestinal symptoms. From February through April 2007, we randomly split respondents into two groups to examine effect of recall periods and question order. One group was first asked about symptoms in the 7 days before interview and then asked about symptoms in the month before interview. The other group was asked only about symptoms in the month before interview.
    Results: Overall, the monthly prevalence of acute diarrheal illness (≥3 loose stools in 24-hours, lasting >1 day, or restricting daily activities) was 7.7%. This proportion was consistent among the respondents who were first asked about a 7-day recall period (n=1436) and those asked only about symptoms in the past month (n=2132). Extrapolation from the reported 7-day prevalence of 3.1% to an annual rate of 1.6 episodes per person, however, was almost twice the rate of episodes estimated when extrapolating from the month recall period. Similar findings were found with acute gastroenteritis (acute diarrheal illness or vomiting without respiratory symptoms).
    Conclusions: First asking respondents about a 7-day recall period did not affect the prevalence of acute gastroenteritis reported for a 1-month recall period. Recall period length did, however, have a major impact on estimates of acute gastroenteritis. Retrospective studies using different recall periods may not be comparable.
    MeSH term(s) Acute Disease ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Child, Preschool ; Diarrhea/epidemiology ; Female ; Food Microbiology ; Gastroenteritis/epidemiology ; Gastroenteritis/microbiology ; Health Surveys ; Humans ; Infant ; Male ; Middle Aged ; Telephone ; Time Factors ; United States/epidemiology
    Language English
    Publishing date 2010-10
    Publishing country United States
    Document type Journal Article ; Research Support, U.S. Gov't, Non-P.H.S. ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 2148479-X
    ISSN 1556-7125 ; 1535-3141
    ISSN (online) 1556-7125
    ISSN 1535-3141
    DOI 10.1089/fpd.2010.0567
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Asian Cohort for Alzheimer's Disease (ACAD) pilot study on genetic and non-genetic risk factors for Alzheimer's disease among Asian Americans and Canadians.

    Ho, Pei-Chuan / Yu, Wai Haung / Tee, Boon Lead / Lee, Wan-Ping / Li, Clara / Gu, Yian / Yokoyama, Jennifer S / Reyes-Dumeyer, Dolly / Choi, Yun-Beom / Yang, Hyun-Sik / Vardarajan, Badri N / Tzuang, Marian / Lieu, Kevin / Lu, Anna / Faber, Kelley M / Potter, Zoë D / Revta, Carolyn / Kirsch, Maureen / McCallum, Jake /
    Mei, Diana / Booth, Briana / Cantwell, Laura B / Chen, Fangcong / Chou, Sephera / Clark, Dewi / Deng, Michelle / Hong, Ting Hei / Hwang, Ling-Jen / Jiang, Lilly / Joo, Yoonmee / Kang, Younhee / Kim, Ellen S / Kim, Hoowon / Kim, Kyungmin / Kuzma, Amanda B / Lam, Eleanor / Lanata, Serggio C / Lee, Kunho / Li, Donghe / Li, Mingyao / Li, Xiang / Liu, Chia-Lun / Liu, Collin / Liu, Linghsi / Lupo, Jody-Lynn / Nguyen, Khai / Pfleuger, Shannon E / Qian, James / Qian, Winnie / Ramirez, Veronica / Russ, Kristen A / Seo, Eun Hyun / Song, Yeunjoo E / Tartaglia, Maria Carmela / Tian, Lu / Torres, Mina / Vo, Namkhue / Wong, Ellen C / Xie, Yuan / Yau, Eugene B / Yi, Isabelle / Yu, Victoria / Zeng, Xiaoyi / St George-Hyslop, Peter / Au, Rhoda / Schellenberg, Gerard D / Dage, Jeffrey L / Varma, Rohit / Hsiung, Ging-Yuek R / Rosen, Howard / Henderson, Victor W / Foroud, Tatiana / Kukull, Walter A / Peavy, Guerry M / Lee, Haeok / Feldman, Howard H / Mayeux, Richard / Chui, Helena / Jun, Gyungah R / Ta Park, Van M / Chow, Tiffany W / Wang, Li-San

    Alzheimer's & dementia : the journal of the Alzheimer's Association

    2024  Volume 20, Issue 3, Page(s) 2058–2071

    Abstract: Introduction: Clinical research in Alzheimer's disease (AD) lacks cohort diversity despite being a global health crisis. The Asian Cohort for Alzheimer's Disease (ACAD) was formed to address underrepresentation of Asians in research, and limited ... ...

    Abstract Introduction: Clinical research in Alzheimer's disease (AD) lacks cohort diversity despite being a global health crisis. The Asian Cohort for Alzheimer's Disease (ACAD) was formed to address underrepresentation of Asians in research, and limited understanding of how genetics and non-genetic/lifestyle factors impact this multi-ethnic population.
    Methods: The ACAD started fully recruiting in October 2021 with one central coordination site, eight recruitment sites, and two analysis sites. We developed a comprehensive study protocol for outreach and recruitment, an extensive data collection packet, and a centralized data management system, in English, Chinese, Korean, and Vietnamese.
    Results: ACAD has recruited 606 participants with an additional 900 expressing interest in enrollment since program inception.
    Discussion: ACAD's traction indicates the feasibility of recruiting Asians for clinical research to enhance understanding of AD risk factors. ACAD will recruit > 5000 participants to identify genetic and non-genetic/lifestyle AD risk factors, establish blood biomarker levels for AD diagnosis, and facilitate clinical trial readiness.
    Highlights: The Asian Cohort for Alzheimer's Disease (ACAD) promotes awareness of under-investment in clinical research for Asians. We are recruiting Asian Americans and Canadians for novel insights into Alzheimer's disease. We describe culturally appropriate recruitment strategies and data collection protocol. ACAD addresses challenges of recruitment from heterogeneous Asian subcommunities. We aim to implement a successful recruitment program that enrolls across three Asian subcommunities.
    MeSH term(s) Humans ; Alzheimer Disease/genetics ; Pilot Projects ; Asian/genetics ; Canada ; Risk Factors ; North American People
    Language English
    Publishing date 2024-01-12
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2211627-8
    ISSN 1552-5279 ; 1552-5260
    ISSN (online) 1552-5279
    ISSN 1552-5260
    DOI 10.1002/alz.13611
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel: A Meta-analysis.

    Kunkle, Brian W / Schmidt, Michael / Klein, Hans-Ulrich / Naj, Adam C / Hamilton-Nelson, Kara L / Larson, Eric B / Evans, Denis A / De Jager, Phil L / Crane, Paul K / Buxbaum, Joe D / Ertekin-Taner, Nilufer / Barnes, Lisa L / Fallin, M Daniele / Manly, Jennifer J / Go, Rodney C P / Obisesan, Thomas O / Kamboh, M Ilyas / Bennett, David A / Hall, Kathleen S /
    Goate, Alison M / Foroud, Tatiana M / Martin, Eden R / Wang, Li-Sao / Byrd, Goldie S / Farrer, Lindsay A / Haines, Jonathan L / Schellenberg, Gerard D / Mayeux, Richard / Pericak-Vance, Margaret A / Reitz, Christiane / Graff-Radford, Neill R / Martinez, Izri / Ayodele, Temitope / Logue, Mark W / Cantwell, Laura B / Jean-Francois, Melissa / Kuzma, Amanda B / Adams, L D / Vance, Jeffery M / Cuccaro, Michael L / Chung, Jaeyoon / Mez, Jesse / Lunetta, Kathryn L / Jun, Gyungah R / Lopez, Oscar L / Hendrie, Hugh C / Reiman, Eric M / Kowall, Neil W / Leverenz, James B / Small, Scott A / Levey, Allan I / Golde, Todd E / Saykin, Andrew J / Starks, Takiyah D / Albert, Marilyn S / Hyman, Bradley T / Petersen, Ronald C / Sano, Mary / Wisniewski, Thomas / Vassar, Robert / Kaye, Jeffrey A / Henderson, Victor W / DeCarli, Charles / LaFerla, Frank M / Brewer, James B / Miller, Bruce L / Swerdlow, Russell H / Van Eldik, Linda J / Paulson, Henry L / Trojanowski, John Q / Chui, Helena C / Rosenberg, Roger N / Craft, Suzanne / Grabowski, Thomas J / Asthana, Sanjay / Morris, John C / Strittmatter, Stephen M / Kukull, Walter A

    JAMA neurology

    2020  Volume 78, Issue 1, Page(s) 102–113

    Abstract: Importance: Compared with non-Hispanic White individuals, African American individuals from the same community are approximately twice as likely to develop Alzheimer disease. Despite this disparity, the largest Alzheimer disease genome-wide association ... ...

    Abstract Importance: Compared with non-Hispanic White individuals, African American individuals from the same community are approximately twice as likely to develop Alzheimer disease. Despite this disparity, the largest Alzheimer disease genome-wide association studies to date have been conducted in non-Hispanic White individuals. In the largest association analyses of Alzheimer disease in African American individuals, ABCA7, TREM2, and an intergenic locus at 5q35 were previously implicated.
    Objective: To identify additional risk loci in African American individuals by increasing the sample size and using the African Genome Resource panel.
    Design, setting, and participants: This genome-wide association meta-analysis used case-control and family-based data sets from the Alzheimer Disease Genetics Consortium. There were multiple recruitment sites throughout the United States that included individuals with Alzheimer disease and controls of African American ancestry. Analysis began October 2018 and ended September 2019.
    Main outcomes and measures: Diagnosis of Alzheimer disease.
    Results: A total of 2784 individuals with Alzheimer disease (1944 female [69.8%]) and 5222 controls (3743 female [71.7%]) were analyzed (mean [SD] age at last evaluation, 74.2 [13.6] years). Associations with 4 novel common loci centered near the intracellular glycoprotein trafficking gene EDEM1 (3p26; P = 8.9 × 10-7), near the immune response gene ALCAM (3q13; P = 9.3 × 10-7), within GPC6 (13q31; P = 4.1 × 10-7), a gene critical for recruitment of glutamatergic receptors to the neuronal membrane, and within VRK3 (19q13.33; P = 3.5 × 10-7), a gene involved in glutamate neurotoxicity, were identified. In addition, several loci associated with rare variants, including a genome-wide significant intergenic locus near IGF1R at 15q26 (P = 1.7 × 10-9) and 6 additional loci with suggestive significance (P ≤ 5 × 10-7) such as API5 at 11p12 (P = 8.8 × 10-8) and RBFOX1 at 16p13 (P = 5.4 × 10-7) were identified. Gene expression data from brain tissue demonstrate association of ALCAM, ARAP1, GPC6, and RBFOX1 with brain β-amyloid load. Of 25 known loci associated with Alzheimer disease in non-Hispanic White individuals, only APOE, ABCA7, TREM2, BIN1, CD2AP, FERMT2, and WWOX were implicated at a nominal significance level or stronger in African American individuals. Pathway analyses strongly support the notion that immunity, lipid processing, and intracellular trafficking pathways underlying Alzheimer disease in African American individuals overlap with those observed in non-Hispanic White individuals. A new pathway emerging from these analyses is the kidney system, suggesting a novel mechanism for Alzheimer disease that needs further exploration.
    Conclusions and relevance: While the major pathways involved in Alzheimer disease etiology in African American individuals are similar to those in non-Hispanic White individuals, the disease-associated loci within these pathways differ.
    MeSH term(s) Black or African American/genetics ; Aged ; Alzheimer Disease/genetics ; Female ; Genetic Loci ; Genetic Predisposition to Disease/genetics ; Genome-Wide Association Study ; Humans ; Male ; Middle Aged
    Language English
    Publishing date 2020-10-13
    Publishing country United States
    Document type Journal Article ; Meta-Analysis ; Research Support, N.I.H., Extramural
    ZDB-ID 2702023-X
    ISSN 2168-6157 ; 2168-6149
    ISSN (online) 2168-6157
    ISSN 2168-6149
    DOI 10.1001/jamaneurol.2020.3536
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies

    Rajabli, Farid / Benchek, Penelope / Tosto, Giuseppe / Kushch, Nicholas / Sha, Jin / Bazemore, Katrina / Zhu, Congcong / Lee, Wan-Ping / Haut, Jacob / Hamilton-Nelson, Kara L / Wheeler, Nicholas R / Zhao, Yi / Farrell, John J / Grunin, Michelle A / Leung, Yuk Yee / Kuksa, Pavel P / Li, Donghe / Lucio da Fonseca, Eder / Mez, Jesse B /
    Palmer, Ellen L / Pillai, Jagan / Sherva, Richard M / Song, Yeunjoo E / Zhang, Xiaoling / Iqbal, Taha / Pathak, Omkar / Valladares, Otto / Kuzma, Amanda B / Abner, Erin / Adams, Perrie M / Aguirre, Alyssa / Albert, Marilyn S / Albin, Roger L / Allen, Mariet / Alvarez, Lisa / Apostolova, Liana G / Arnold, Steven E / Asthana, Sanjay / Atwood, Craig S / Ayres, Gayle / Baldwin, Clinton T / Barber, Robert C / Barnes, Lisa L / Barral, Sandra / Beach, Thomas G / Becker, James T / Beecham, Gary W / Beekly, Duane / Benitez, Bruno A / Bennett, David / Bertelson, John / Bird, Thomas D / Blacker, Deborah / Boeve, Bradley F / Bowen, James D / Boxer, Adam / Brewer, James / Burke, James R / Burns, Jeffrey M / Buxbaum, Joseph D / Cairns, Nigel J / Cantwell, Laura B / Cao, Chuanhai / Carlson, Christopher S / Carlsson, Cynthia M / Carney, Regina M / Carrasquillo, Minerva M / Chasse, Scott / Chesselet, Marie-Francoise / Chin, Nathaniel A / Chui, Helena C / Chung, Jaeyoon / Craft, Suzanne / Crane, Paul K / Cribbs, David H / Crocco, Elizabeth A / Cruchaga, Carlos / Cuccaro, Michael L / Cullum, Munro / Darby, Eveleen / Davis, Barbara / De Jager, Philip L / DeCarli, Charles / DeToledo, John / Dick, Malcolm / Dickson, Dennis W / Dombroski, Beth A / Doody, Rachelle S / Duara, Ranjan / Ertekin-Taner, NIlüfer / Evans, Denis A / Faber, Kelley M / Fairchild, Thomas J / Fallon, Kenneth B / Fardo, David W / Farlow, Martin R / Fernandez-Hernandez, Victoria / Ferris, Steven / Foroud, Tatiana M / Frosch, Matthew P / Fulton-Howard, Brian / Galasko, Douglas R / Gamboa, Adriana / Gearing, Marla / Geschwind, Daniel H / Ghetti, Bernardino / Gilbert, John R / Goate, Alison M / Grabowski, Thomas J / Graff-Radford, Neill R / Green, Robert C / Growdon, John H / Hakonarson, Hakon / Hall, James / Hamilton, Ronald L / Harari, Oscar / Hardy, John / Harrell, Lindy E / Head, Elizabeth / Henderson, Victor W / Hernandez, Michelle / Hohman, Timothy / Honig, Lawrence S / Huebinger, Ryan M / Huentelman, Matthew J / Hulette, Christine M / Hyman, Bradley T / Hynan, Linda S / Ibanez, Laura / Jarvik, Gail P / Jayadev, Suman / Jin, Lee-Way / Johnson, Kim / Johnson, Leigh / Kamboh, M Ilyas / Karydas, Anna M / Katz, Mindy J / Kauwe, John S / Kaye, Jeffrey A / Keene, C Dirk / Khaleeq, Aisha / Kim, Ronald / Knebl, Janice / Kowall, Neil W / Kramer, Joel H / Kukull, Walter A / LaFerla, Frank M / Lah, James J / Larson, Eric B / Lerner, Alan / Leverenz, James B / Levey, Allan I / Lieberman, Andrew P / Lipton, Richard B / Logue, Mark / Lopez, Oscar L / Lunetta, Kathryn L / Lyketsos, Constantine G / Mains, Douglas / Margaret, Flanagan E / Marson, Daniel C / Martin, Eden R R / Martiniuk, Frank / Mash, Deborah C / Masliah, Eliezer / Massman, Paul / Masurkar, Arjun / McCormick, Wayne C / McCurry, Susan M / McDavid, Andrew N / McDonough, Stefan / McKee, Ann C / Mesulam, Marsel / Miller, Bruce L / Miller, Carol A / Miller, Joshua W / Montine, Thomas J / Monuki, Edwin S / Morris, John C / Mukherjee, Shubhabrata / Myers, Amanda J / Nguyen, Trung / O'Bryant, Sid / Olichney, John M / Ory, Marcia / Palmer, Raymond / Parisi, Joseph E / Paulson, Henry L / Pavlik, Valory / Paydarfar, David / Perez, Victoria / Peskind, Elaine / Petersen, Ronald C / Pierce, Aimee / Polk, Marsha / Poon, Wayne W / Potter, Huntington / Qu, Liming / Quiceno, Mary / Quinn, Joseph F / Raj, Ashok / Raskind, Murray / Reiman, Eric M / Reisberg, Barry / Reisch, Joan S / Ringman, John M / Roberson, Erik D / Rodriguear, Monica / Rogaeva, Ekaterina / Rosen, Howard J / Rosenberg, Roger N / Royall, Donald R / Sager, Mark A / Sano, Mary / Saykin, Andrew J / Schneider, Julie A / Schneider, Lon S / Seeley, William W / Slifer, Susan H / Small, Scott / Smith, Amanda G / Smith, Janet P / Sonnen, Joshua A / Spina, Salvatore / St George-Hyslop, Peter / Stern, Robert A / Stevens, Alan B / Strittmatter, Stephen M / Sultzer, David / Swerdlow, Russell H / Tanzi, Rudolph E / Tilson, Jeffrey L / Trojanowski, John Q / Troncoso, Juan C / Tsuang, Debby W / Van Deerlin, Vivianna M / van Eldik, Linda J / Vance, Jeffery M / Vardarajan, Badri N / Vassar, Robert / Vinters, Harry V / Vonsattel, Jean-Paul / Weintraub, Sandra / Welsh-Bohmer, Kathleen A / Whitehead, Patrice L / Wijsman, Ellen M / Wilhelmsen, Kirk C / Williams, Benjamin / Williamson, Jennifer / Wilms, Henrik / Wingo, Thomas S / Wisniewski, Thomas / Woltjer, Randall L / Woon, Martin / Wright, Clinton B / Wu, Chuang-Kuo / Younkin, Steven G / Yu, Chang-En / Yu, Lei / Zhu, Xiongwei / Kunkle, Brian W / Bush, William S / Wang, Li-San / Farrer, Lindsay A / Haines, Jonathan L / Mayeux, Richard / Pericak-Vance, Margaret A / Schellenberg, Gerard D / Jun, Gyungah R / Reitz, Christiane / Naj, Adam C

    medRxiv : the preprint server for health sciences

    2023  

    Abstract: Limited ancestral diversity has impaired our ability to detect risk variants more prevalent in non-European ancestry groups in genome-wide association studies (GWAS). We constructed and analyzed a multi-ancestry GWAS dataset in the Alzheimer's Disease ( ... ...

    Abstract Limited ancestral diversity has impaired our ability to detect risk variants more prevalent in non-European ancestry groups in genome-wide association studies (GWAS). We constructed and analyzed a multi-ancestry GWAS dataset in the Alzheimer's Disease (AD) Genetics Consortium (ADGC) to test for novel shared and ancestry-specific AD susceptibility loci and evaluate underlying genetic architecture in 37,382 non-Hispanic White (NHW), 6,728 African American, 8,899 Hispanic (HIS), and 3,232 East Asian individuals, performing within-ancestry fixed-effects meta-analysis followed by a cross-ancestry random-effects meta-analysis. We identified 13 loci with cross-ancestry associations including known loci at/near
    Language English
    Publishing date 2023-07-08
    Publishing country United States
    Document type Preprint
    DOI 10.1101/2023.07.06.23292311
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals.

    Ghani, Mahdi / Reitz, Christiane / Cheng, Rong / Vardarajan, Badri Narayan / Jun, Gyungah / Sato, Christine / Naj, Adam / Rajbhandary, Ruchita / Wang, Li-San / Valladares, Otto / Lin, Chiao-Feng / Larson, Eric B / Graff-Radford, Neill R / Evans, Denis / De Jager, Philip L / Crane, Paul K / Buxbaum, Joseph D / Murrell, Jill R / Raj, Towfique /
    Ertekin-Taner, Nilufer / Logue, Mark / Baldwin, Clinton T / Green, Robert C / Barnes, Lisa L / Cantwell, Laura B / Fallin, M Daniele / Go, Rodney C P / Griffith, Patrick A / Obisesan, Thomas O / Manly, Jennifer J / Lunetta, Kathryn L / Kamboh, M Ilyas / Lopez, Oscar L / Bennett, David A / Hendrie, Hugh / Hall, Kathleen S / Goate, Alison M / Byrd, Goldie S / Kukull, Walter A / Foroud, Tatiana M / Haines, Jonathan L / Farrer, Lindsay A / Pericak-Vance, Margaret A / Lee, Joseph H / Schellenberg, Gerard D / St George-Hyslop, Peter / Mayeux, Richard / Rogaeva, Ekaterina

    JAMA neurology

    2015  Volume 72, Issue 11, Page(s) 1313–1323

    Abstract: Importance: Mutations in known causal Alzheimer disease (AD) genes account for only 1% to 3% of patients and almost all are dominantly inherited. Recessive inheritance of complex phenotypes can be linked to long (>1-megabase [Mb]) runs of homozygosity ( ... ...

    Abstract Importance: Mutations in known causal Alzheimer disease (AD) genes account for only 1% to 3% of patients and almost all are dominantly inherited. Recessive inheritance of complex phenotypes can be linked to long (>1-megabase [Mb]) runs of homozygosity (ROHs) detectable by single-nucleotide polymorphism (SNP) arrays.
    Objective: To evaluate the association between ROHs and AD in an African American population known to have a risk for AD up to 3 times higher than white individuals.
    Design, setting, and participants: Case-control study of a large African American data set previously genotyped on different genome-wide SNP arrays conducted from December 2013 to January 2015. Global and locus-based ROH measurements were analyzed using raw or imputed genotype data. We studied the raw genotypes from 2 case-control subsets grouped based on SNP array: Alzheimer's Disease Genetics Consortium data set (871 cases and 1620 control individuals) and Chicago Health and Aging Project-Indianapolis Ibadan Dementia Study data set (279 cases and 1367 control individuals). We then examined the entire data set using imputed genotypes from 1917 cases and 3858 control individuals.
    Main outcomes and measures: The ROHs larger than 1 Mb, 2 Mb, or 3 Mb were investigated separately for global burden evaluation, consensus regions, and gene-based analyses.
    Results: The African American cohort had a low degree of inbreeding (F ~ 0.006). In the Alzheimer's Disease Genetics Consortium data set, we detected a significantly higher proportion of cases with ROHs greater than 2 Mb (P = .004) or greater than 3 Mb (P = .02), as well as a significant 114-kilobase consensus region on chr4q31.3 (empirical P value 2 = .04; ROHs >2 Mb). In the Chicago Health and Aging Project-Indianapolis Ibadan Dementia Study data set, we identified a significant 202-kilobase consensus region on Chr15q24.1 (empirical P value 2 = .02; ROHs >1 Mb) and a cluster of 13 significant genes on Chr3p21.31 (empirical P value 2 = .03; ROHs >3 Mb). A total of 43 of 49 nominally significant genes common for both data sets also mapped to Chr3p21.31. Analyses of imputed SNP data from the entire data set confirmed the association of AD with global ROH measurements (12.38 ROHs >1 Mb in cases vs 12.11 in controls; 2.986 Mb average size of ROHs >2 Mb in cases vs 2.889 Mb in controls; and 22% of cases with ROHs >3 Mb vs 19% of controls) and a gene-cluster on Chr3p21.31 (empirical P value 2 = .006-.04; ROHs >3 Mb). Also, we detected a significant association between AD and CLDN17 (empirical P value 2 = .01; ROHs >1 Mb), encoding a protein from the Claudin family, members of which were previously suggested as AD biomarkers.
    Conclusions and relevance: To our knowledge, we discovered the first evidence of increased burden of ROHs among patients with AD from an outbred African American population, which could reflect either the cumulative effect of multiple ROHs to AD or the contribution of specific loci harboring recessive mutations and risk haplotypes in a subset of patients. Sequencing is required to uncover AD variants in these individuals.
    MeSH term(s) Black or African American/ethnology ; Aged ; Alzheimer Disease/genetics ; Case-Control Studies ; Chicago/ethnology ; Genes, Recessive ; Genome-Wide Association Study ; Homozygote ; Humans ; Indiana/ethnology ; Polymorphism, Single Nucleotide/genetics
    Language English
    Publishing date 2015-09-14
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2702023-X
    ISSN 2168-6157 ; 2168-6149
    ISSN (online) 2168-6157
    ISSN 2168-6149
    DOI 10.1001/jamaneurol.2015.1700
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: National outbreak of Salmonella serotype saintpaul infections: importance of Texas restaurant investigations in implicating jalapeño peppers.

    Mody, Rajal K / Greene, Sharon A / Gaul, Linda / Sever, Adrianne / Pichette, Sarah / Zambrana, Ingrid / Dang, Thi / Gass, Angie / Wood, René / Herman, Karen / Cantwell, Laura B / Falkenhorst, Gerhard / Wannemuehler, Kathleen / Hoekstra, Robert M / McCullum, Isaac / Cone, Amy / Franklin, Lou / Austin, Jana / Delea, Kristin /
    Behravesh, Casey Barton / Sodha, Samir V / Yee, J Christopher / Emanuel, Brian / Al-Khaldi, Sufian F / Jefferson, Val / Williams, Ian T / Griffin, Patricia M / Swerdlow, David L

    PloS one

    2011  Volume 6, Issue 2, Page(s) e16579

    Abstract: Background: In May 2008, PulseNet detected a multistate outbreak of Salmonella enterica serotype Saintpaul infections. Initial investigations identified an epidemiologic association between illness and consumption of raw tomatoes, yet cases continued. ... ...

    Abstract Background: In May 2008, PulseNet detected a multistate outbreak of Salmonella enterica serotype Saintpaul infections. Initial investigations identified an epidemiologic association between illness and consumption of raw tomatoes, yet cases continued. In mid-June, we investigated two clusters of outbreak strain infections in Texas among patrons of Restaurant A and two establishments of Restaurant Chain B to determine the outbreak's source.
    Methodology/principal findings: We conducted independent case-control studies of Restaurant A and B patrons. Patients were matched to well controls by meal date. We conducted restaurant environmental investigations and traced the origin of implicated products. Forty-seven case-patients and 40 controls were enrolled in the Restaurant A study. Thirty case-patients and 31 controls were enrolled in the Restaurant Chain B study. In both studies, illness was independently associated with only one menu item, fresh salsa (Restaurant A: matched odds ratio [mOR], 37; 95% confidence interval [CI], 7.2-386; Restaurant B: mOR, 13; 95% CI 1.3-infinity). The only ingredient in common between the two salsas was raw jalapeño peppers. Cultures of jalapeño peppers collected from an importer that supplied Restaurant Chain B and serrano peppers and irrigation water from a Mexican farm that supplied that importer with jalapeño and serrano peppers grew the outbreak strain.
    Conclusions/significance: Jalapeño peppers, contaminated before arrival at the restaurants and served in uncooked fresh salsas, were the source of these infections. Our investigations, critical in understanding the broader multistate outbreak, exemplify an effective approach to investigating large foodborne outbreaks. Additional measures are needed to reduce produce contamination.
    MeSH term(s) Adolescent ; Adult ; Aged ; Capsicum/microbiology ; Case-Control Studies ; Child ; Child, Preschool ; Disease Outbreaks ; Female ; Humans ; Male ; Middle Aged ; Research Report ; Restaurants/statistics & numerical data ; Salmonella Food Poisoning/epidemiology ; Salmonella Infections/diagnosis ; Salmonella Infections/epidemiology ; Salmonella enterica/classification ; Serotyping ; Texas/epidemiology ; Young Adult
    Language English
    Publishing date 2011-02-23
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2267670-3
    ISSN 1932-6203 ; 1932-6203
    ISSN (online) 1932-6203
    ISSN 1932-6203
    DOI 10.1371/journal.pone.0016579
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.

    Kouri, Naomi / Ross, Owen A / Dombroski, Beth / Younkin, Curtis S / Serie, Daniel J / Soto-Ortolaza, Alexandra / Baker, Matthew / Finch, Ni Cole A / Yoon, Hyejin / Kim, Jungsu / Fujioka, Shinsuke / McLean, Catriona A / Ghetti, Bernardino / Spina, Salvatore / Cantwell, Laura B / Farlow, Martin R / Grafman, Jordan / Huey, Edward D / Ryung Han, Mi /
    Beecher, Sherry / Geller, Evan T / Kretzschmar, Hans A / Roeber, Sigrun / Gearing, Marla / Juncos, Jorge L / Vonsattel, Jean Paul G / Van Deerlin, Vivianna M / Grossman, Murray / Hurtig, Howard I / Gross, Rachel G / Arnold, Steven E / Trojanowski, John Q / Lee, Virginia M / Wenning, Gregor K / White, Charles L / Höglinger, Günter U / Müller, Ulrich / Devlin, Bernie / Golbe, Lawrence I / Crook, Julia / Parisi, Joseph E / Boeve, Bradley F / Josephs, Keith A / Wszolek, Zbigniew K / Uitti, Ryan J / Graff-Radford, Neill R / Litvan, Irene / Younkin, Steven G / Wang, Li-San / Ertekin-Taner, Nilüfer / Rademakers, Rosa / Hakonarsen, Hakon / Schellenberg, Gerard D / Dickson, Dennis W

    Nature communications

    2015  Volume 6, Page(s) 7247

    Abstract: Corticobasal degeneration (CBD) is a neurodegenerative disorder affecting movement and cognition, definitively diagnosed only at autopsy. Here, we conduct a genome-wide association study (GWAS) in CBD cases (n=152) and 3,311 controls, and 67 CBD cases ... ...

    Abstract Corticobasal degeneration (CBD) is a neurodegenerative disorder affecting movement and cognition, definitively diagnosed only at autopsy. Here, we conduct a genome-wide association study (GWAS) in CBD cases (n=152) and 3,311 controls, and 67 CBD cases and 439 controls in a replication stage. Associations with meta-analysis were 17q21 at MAPT (P=1.42 × 10(-12)), 8p12 at lnc-KIF13B-1, a long non-coding RNA (rs643472; P=3.41 × 10(-8)), and 2p22 at SOS1 (rs963731; P=1.76 × 10(-7)). Testing for association of CBD with top progressive supranuclear palsy (PSP) GWAS single-nucleotide polymorphisms (SNPs) identified associations at MOBP (3p22; rs1768208; P=2.07 × 10(-7)) and MAPT H1c (17q21; rs242557; P=7.91 × 10(-6)). We previously reported SNP/transcript level associations with rs8070723/MAPT, rs242557/MAPT, and rs1768208/MOBP and herein identified association with rs963731/SOS1. We identify new CBD susceptibility loci and show that CBD and PSP share a genetic risk factor other than MAPT at 3p22 MOBP (myelin-associated oligodendrocyte basic protein).
    MeSH term(s) Adult ; Aged ; Aged, 80 and over ; Basal Ganglia Diseases/genetics ; Case-Control Studies ; Cerebral Cortex ; Female ; Genome-Wide Association Study ; Humans ; Kinesin/genetics ; Male ; Middle Aged ; Myelin Proteins/genetics ; Neurodegenerative Diseases/genetics ; Polymorphism, Single Nucleotide ; RNA, Long Noncoding/genetics ; SOS1 Protein/genetics ; Supranuclear Palsy, Progressive/genetics ; Young Adult ; tau Proteins/genetics
    Chemical Substances MAPT protein, human ; MOBP protein, human ; Myelin Proteins ; RNA, Long Noncoding ; SOS1 Protein ; tau Proteins ; KIF13B protein, human (EC 3.6.1.-) ; Kinesin (EC 3.6.4.4)
    Language English
    Publishing date 2015-06-16
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2553671-0
    ISSN 2041-1723 ; 2041-1723
    ISSN (online) 2041-1723
    ISSN 2041-1723
    DOI 10.1038/ncomms8247
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  8. Article ; Online: Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans.

    Reitz, Christiane / Jun, Gyungah / Naj, Adam / Rajbhandary, Ruchita / Vardarajan, Badri Narayan / Wang, Li-San / Valladares, Otto / Lin, Chiao-Feng / Larson, Eric B / Graff-Radford, Neill R / Evans, Denis / De Jager, Philip L / Crane, Paul K / Buxbaum, Joseph D / Murrell, Jill R / Raj, Towfique / Ertekin-Taner, Nilufer / Logue, Mark / Baldwin, Clinton T /
    Green, Robert C / Barnes, Lisa L / Cantwell, Laura B / Fallin, M Daniele / Go, Rodney C P / Griffith, Patrick / Obisesan, Thomas O / Manly, Jennifer J / Lunetta, Kathryn L / Kamboh, M Ilyas / Lopez, Oscar L / Bennett, David A / Hendrie, Hugh / Hall, Kathleen S / Goate, Alison M / Byrd, Goldie S / Kukull, Walter A / Foroud, Tatiana M / Haines, Jonathan L / Farrer, Lindsay A / Pericak-Vance, Margaret A / Schellenberg, Gerard D / Mayeux, Richard

    JAMA

    2013  Volume 309, Issue 14, Page(s) 1483–1492

    Abstract: Importance: Genetic variants associated with susceptibility to late-onset Alzheimer disease are known for individuals of European ancestry, but whether the same or different variants account for the genetic risk of Alzheimer disease in African American ... ...

    Abstract Importance: Genetic variants associated with susceptibility to late-onset Alzheimer disease are known for individuals of European ancestry, but whether the same or different variants account for the genetic risk of Alzheimer disease in African American individuals is unknown. Identification of disease-associated variants helps identify targets for genetic testing, prevention, and treatment.
    Objective: To identify genetic loci associated with late-onset Alzheimer disease in African Americans.
    Design, setting, and participants: The Alzheimer Disease Genetics Consortium (ADGC) assembled multiple data sets representing a total of 5896 African Americans (1968 case participants, 3928 control participants) 60 years or older that were collected between 1989 and 2011 at multiple sites. The association of Alzheimer disease with genotyped and imputed single-nucleotide polymorphisms (SNPs) was assessed in case-control and in family-based data sets. Results from individual data sets were combined to perform an inverse variance-weighted meta-analysis, first with genome-wide analyses and subsequently with gene-based tests for previously reported loci.
    Main outcomes and measures: Presence of Alzheimer disease according to standardized criteria.
    Results: Genome-wide significance in fully adjusted models (sex, age, APOE genotype, population stratification) was observed for a SNP in ABCA7 (rs115550680, allele = G; frequency, 0.09 cases and 0.06 controls; odds ratio [OR], 1.79 [95% CI, 1.47-2.12]; P = 2.2 × 10(-9)), which is in linkage disequilibrium with SNPs previously associated with Alzheimer disease in Europeans (0.8 < D' < 0.9). The effect size for the SNP in ABCA7 was comparable with that of the APOE ϵ4-determining SNP rs429358 (allele = C; frequency, 0.30 cases and 0.18 controls; OR, 2.31 [95% CI, 2.19-2.42]; P = 5.5 × 10(-47)). Several loci previously associated with Alzheimer disease but not reaching significance in genome-wide analyses were replicated in gene-based analyses accounting for linkage disequilibrium between markers and correcting for number of tests performed per gene (CR1, BIN1, EPHA1, CD33; 0.0005 < empirical P < .001).
    Conclusions and relevance: In this meta-analysis of data from African American participants, Alzheimer disease was significantly associated with variants in ABCA7 and with other genes that have been associated with Alzheimer disease in individuals of European ancestry. Replication and functional validation of this finding is needed before this information is used in clinical settings.
    MeSH term(s) ATP-Binding Cassette Transporters/genetics ; African Americans/genetics ; Age of Onset ; Aged ; Alzheimer Disease/ethnology ; Alzheimer Disease/genetics ; Apolipoprotein E4/genetics ; Case-Control Studies ; Genetic Predisposition to Disease ; Genetic Variation ; Genome-Wide Association Study ; Genotype ; Humans ; Linkage Disequilibrium ; Middle Aged ; Polymorphism, Single Nucleotide ; Risk
    Chemical Substances ABCA7 protein, human ; ATP-Binding Cassette Transporters ; Apolipoprotein E4
    Language English
    Publishing date 2013-04-02
    Publishing country United States
    Document type Journal Article ; Meta-Analysis ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
    ZDB-ID 2958-0
    ISSN 1538-3598 ; 0254-9077 ; 0002-9955 ; 0098-7484
    ISSN (online) 1538-3598
    ISSN 0254-9077 ; 0002-9955 ; 0098-7484
    DOI 10.1001/jama.2013.2973
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  9. Article ; Online: Global and local ancestry in African-Americans: Implications for Alzheimer's disease risk.

    Hohman, Timothy J / Cooke-Bailey, Jessica N / Reitz, Christiane / Jun, Gyungah / Naj, Adam / Beecham, Gary W / Liu, Zhi / Carney, Regina M / Vance, Jeffrey M / Cuccaro, Michael L / Rajbhandary, Ruchita / Vardarajan, Badri Narayan / Wang, Li-San / Valladares, Otto / Lin, Chiao-Feng / Larson, Eric B / Graff-Radford, Neill R / Evans, Denis / De Jager, Philip L /
    Crane, Paul K / Buxbaum, Joseph D / Murrell, Jill R / Raj, Towfique / Ertekin-Taner, Nilufer / Logue, Mark W / Baldwin, Clinton T / Green, Robert C / Barnes, Lisa L / Cantwell, Laura B / Fallin, M Daniele / Go, Rodney C P / Griffith, Patrick / Obisesan, Thomas O / Manly, Jennifer J / Lunetta, Kathryn L / Kamboh, M Ilyas / Lopez, Oscar L / Bennett, David A / Hardy, John / Hendrie, Hugh C / Hall, Kathleen S / Goate, Alison M / Lang, Rosalyn / Byrd, Goldie S / Kukull, Walter A / Foroud, Tatiana M / Farrer, Lindsay A / Martin, Eden R / Pericak-Vance, Margaret A / Schellenberg, Gerard D / Mayeux, Richard / Haines, Jonathan L / Thornton-Wells, Tricia A

    Alzheimer's & dementia : the journal of the Alzheimer's Association

    2015  Volume 12, Issue 3, Page(s) 233–243

    Abstract: Introduction: African-American (AA) individuals have a higher risk for late-onset Alzheimer's disease (LOAD) than Americans of primarily European ancestry (EA). Recently, the largest genome-wide association study in AAs to date confirmed that six of the ...

    Abstract Introduction: African-American (AA) individuals have a higher risk for late-onset Alzheimer's disease (LOAD) than Americans of primarily European ancestry (EA). Recently, the largest genome-wide association study in AAs to date confirmed that six of the Alzheimer's disease (AD)-related genetic variants originally discovered in EA cohorts are also risk variants in AA; however, the risk attributable to many of the loci (e.g., APOE, ABCA7) differed substantially from previous studies in EA. There likely are risk variants of higher frequency in AAs that have not been discovered.
    Methods: We performed a comprehensive analysis of genetically determined local and global ancestry in AAs with regard to LOAD status.
    Results: Compared to controls, LOAD cases showed higher levels of African ancestry, both globally and at several LOAD relevant loci, which explained risk for AD beyond global differences.
    Discussion: Exploratory post hoc analyses highlight regions with greatest differences in ancestry as potential candidate regions for future genetic analyses.
    MeSH term(s) ATP-Binding Cassette Transporters/genetics ; Black or African American/genetics ; Aged ; Aged, 80 and over ; Alzheimer Disease/epidemiology ; Alzheimer Disease/ethnology ; Alzheimer Disease/genetics ; Apolipoproteins E/genetics ; Chi-Square Distribution ; Chromosome Aberrations ; Cohort Studies ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease/genetics ; Genotype ; Humans ; Male ; Polymorphism, Single Nucleotide/genetics ; Sialic Acid Binding Ig-like Lectin 3/genetics
    Chemical Substances ABCA7 protein, human ; ATP-Binding Cassette Transporters ; Apolipoproteins E ; Sialic Acid Binding Ig-like Lectin 3
    Language English
    Publishing date 2015-06-16
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
    ZDB-ID 2211627-8
    ISSN 1552-5279 ; 1552-5260
    ISSN (online) 1552-5279
    ISSN 1552-5260
    DOI 10.1016/j.jalz.2015.02.012
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  10. Article ; Online: Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.

    Höglinger, Günter U / Melhem, Nadine M / Dickson, Dennis W / Sleiman, Patrick M A / Wang, Li-San / Klei, Lambertus / Rademakers, Rosa / de Silva, Rohan / Litvan, Irene / Riley, David E / van Swieten, John C / Heutink, Peter / Wszolek, Zbigniew K / Uitti, Ryan J / Vandrovcova, Jana / Hurtig, Howard I / Gross, Rachel G / Maetzler, Walter / Goldwurm, Stefano /
    Tolosa, Eduardo / Borroni, Barbara / Pastor, Pau / Cantwell, Laura B / Han, Mi Ryung / Dillman, Allissa / van der Brug, Marcel P / Gibbs, J Raphael / Cookson, Mark R / Hernandez, Dena G / Singleton, Andrew B / Farrer, Matthew J / Yu, Chang-En / Golbe, Lawrence I / Revesz, Tamas / Hardy, John / Lees, Andrew J / Devlin, Bernie / Hakonarson, Hakon / Müller, Ulrich / Schellenberg, Gerard D

    Nature genetics

    2011  Volume 43, Issue 7, Page(s) 699–705

    Abstract: Progressive supranuclear palsy (PSP) is a movement disorder with prominent tau neuropathology. Brain diseases with abnormal tau deposits are called tauopathies, the most common of which is Alzheimer's disease. Environmental causes of tauopathies include ... ...

    Abstract Progressive supranuclear palsy (PSP) is a movement disorder with prominent tau neuropathology. Brain diseases with abnormal tau deposits are called tauopathies, the most common of which is Alzheimer's disease. Environmental causes of tauopathies include repetitive head trauma associated with some sports. To identify common genetic variation contributing to risk for tauopathies, we carried out a genome-wide association study of 1,114 individuals with PSP (cases) and 3,247 controls (stage 1) followed by a second stage in which we genotyped 1,051 cases and 3,560 controls for the stage 1 SNPs that yielded P ≤ 10(-3). We found significant previously unidentified signals (P < 5 × 10(-8)) associated with PSP risk at STX6, EIF2AK3 and MOBP. We confirmed two independent variants in MAPT affecting risk for PSP, one of which influences MAPT brain expression. The genes implicated encode proteins for vesicle-membrane fusion at the Golgi-endosomal interface, for the endoplasmic reticulum unfolded protein response and for a myelin structural component.
    MeSH term(s) Case-Control Studies ; Chromosomes, Human/genetics ; Cohort Studies ; Genetic Loci ; Genetic Predisposition to Disease ; Genetic Variation ; Genome-Wide Association Study ; Humans ; Polymorphism, Single Nucleotide/genetics ; Prognosis ; Risk Factors ; Supranuclear Palsy, Progressive/genetics ; Supranuclear Palsy, Progressive/pathology ; Tauopathies/genetics ; Tauopathies/pathology ; tau Proteins/genetics
    Chemical Substances MAPT protein, human ; tau Proteins
    Language English
    Publishing date 2011-06-19
    Publishing country United States
    Document type Comparative Study ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/ng.859
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