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  1. AU="Bacot, Francois"
  2. AU="Abdallah, Hamza Hadj"
  3. AU="Wang, Yanlan"
  4. AU="Regueiro, Benito"
  5. AU="Bar-Nur, Ori"
  6. AU="Hollander, Jonathan A"
  7. AU="Polidoro, Silvia"
  8. AU="Dausset, J"
  9. AU=Eijkholt Marleen
  10. AU=Sousa Braian L A AU=Sousa Braian L A
  11. AU="Fresel, Marielle"
  12. AU="Ilana Babaev"
  13. AU="Tang, Hang"
  14. AU="McBride, Erin"

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  1. Artikel ; Online: A full molecular picture of F8 intron 1 inversion created with optical genome mapping.

    Fahiminiya, Somayyeh / Rivard, Georges-Etienne / Scott, Patrick / Montpetit, Alexandre / Bacot, François / St-Louis, Jean / Mitchell, Grant A / Foulkes, William D / Soucy, Jean-Francois / Gauthier, Julie

    Haemophilia : the official journal of the World Federation of Hemophilia

    2021  Band 27, Heft 5, Seite(n) e638–e640

    Mesh-Begriff(e) Chromosome Inversion ; Chromosome Mapping ; Factor VIII/genetics ; Hemophilia A/genetics ; Humans ; Introns/genetics
    Chemische Substanzen Factor VIII (9001-27-8)
    Sprache Englisch
    Erscheinungsdatum 2021-07-07
    Erscheinungsland England
    Dokumenttyp Letter
    ZDB-ID 1229713-6
    ISSN 1365-2516 ; 1351-8216 ; 1355-0691
    ISSN (online) 1365-2516
    ISSN 1351-8216 ; 1355-0691
    DOI 10.1111/hae.14375
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel: Ecole Nationale Veterinaire Lyon

    Bacot, Francois-Xavier

    Ecole Nationale Veterinaire Lyon, Thèses de doctorat vétérinaire 2003, [Elektronische Ressource], 2003

    2003  

    Umfang 104 S
    Dokumenttyp Artikel
    Datenquelle Bibliothek der Tierärztlichen Hochschule Hannover

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  3. Artikel ; Online: Variations in 5-methylcytosine and 5-hydroxymethylcytosine among human brain, blood, and saliva using oxBS and the Infinium MethylationEPIC array.

    Gross, Jeffrey A / Lefebvre, François / Lutz, Pierre-Eric / Bacot, François / Vincent, Daniel / Bourque, Guillaume / Turecki, Gustavo

    Biology methods & protocols

    2016  Band 1, Heft 1, Seite(n) 1–8

    Abstract: Investigating 5-methylcytosine (5mC) has led to many hypotheses regarding molecular mechanism underlying human diseases and disorders. Many of these studies, however, utilize bisulfite conversion alone, which cannot distinguish 5mC from its recently ... ...

    Abstract Investigating 5-methylcytosine (5mC) has led to many hypotheses regarding molecular mechanism underlying human diseases and disorders. Many of these studies, however, utilize bisulfite conversion alone, which cannot distinguish 5mC from its recently discovered oxidative product, 5-hydroxymethylcytosine (5hmC). Furthermore, previous array-based technologies do not have the necessary probes to adequately investigate both modifications simultaneously. In this manuscript, we used technical replicates of DNA from human brain, human blood, and human saliva, in combination with oxidative bisulfite conversion and Illumina's Infinium MethylationEPIC array, to analyze 5mC and 5hmC at more than 650 000 and 450 000 relevant loci, respectively, in the human genome. We show the presence of loci with detectable 5mC and 5hmC to be equally distributed across chromosomes and genomic features, while also being present in genomic regions with transcriptional regulatory properties. We also describe 2528 5hmC sites common across tissue types that show a strong association with immune-related functions. Lastly, in human brain, we show that 5hmC accounts for one-third of the total signal from bisulfite-converted data. As such, not only do our results confirm the efficacy and sensitivity of pairing oxidative bisulfite conversion and the EPIC array to detect 5mC and 5hmC in all three tissue types, but they also highlight the importance of dissociating 5hmC from 5mC in future studies related to cytosine modifications.
    Sprache Englisch
    Erscheinungsdatum 2016-12-27
    Erscheinungsland England
    Dokumenttyp Journal Article
    ISSN 2396-8923
    ISSN (online) 2396-8923
    DOI 10.1093/biomethods/bpw002
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel: No association of type 1 diabetes with a functional polymorphism of the LRAP gene.

    Qu, Hui-Qi / Marchand, Luc / Fréchette, Rosalie / Bacot, François / Lu, Yang / Polychronakos, Constantin

    Molecular immunology

    2007  Band 44, Heft 8, Seite(n) 2135–2138

    Abstract: Aims/hypothesis: In a recent linkage analysis of genome-wide gene-expression patterns in lymphoblastoid lines, the gene encoding the leukocyte-derived arginine aminopeptidase (LRAP) was identified as having its expression levels modulated by one of the ... ...

    Abstract Aims/hypothesis: In a recent linkage analysis of genome-wide gene-expression patterns in lymphoblastoid lines, the gene encoding the leukocyte-derived arginine aminopeptidase (LRAP) was identified as having its expression levels modulated by one of the most pronounced effects in cis, mapping to a single-nucleotide polymorphism (rs2762). As this enzyme has an important role in processing antigenic peptides for the HLA I molecules, a variant that drastically modulates its expression levels might affect risk of autoimmunity. This study was designed to confirm that LRAP expression in B-cell derived lines is controlled by a haplotype marked by rs2762 and to see whether this would be the basis of an association with type 1 diabetes (T1D).
    Methods: Single-nucleotide primer extension (SNuPE) was adapted to determine the haplotype-specific expression. Genetic association was tested in 892 nuclear families with one T1D-affected offspring and two parents (2676 individuals).
    Results: All nine heterozygous RNA samples showed an eight-fold higher level of one haplotype over the other (7.97+/-0.99, p=1.33x10(-9)). However, no association of rs2762 with T1D was found by the transmission disequilibrium test (transmission ratio A/G=377/388, p=0.69).
    Conclusions/interpretation: The genetically determined LRAP expression does not play significant roles in T1D. However, this dramatic genetic effect on LRAP expression justifies further investigation of association with other phenotypes, especially autoimmune and related to host defense to specific pathogens.
    Mesh-Begriff(e) Adolescent ; Aminopeptidases/biosynthesis ; Aminopeptidases/genetics ; Antigen Presentation/genetics ; B-Lymphocytes/metabolism ; Cell Line ; Child ; Child, Preschool ; Diabetes Mellitus, Type 1/genetics ; Diabetes Mellitus, Type 1/metabolism ; Female ; Gene Expression Regulation ; HLA Antigens/biosynthesis ; HLA Antigens/genetics ; Humans ; Infant ; Male ; Polymorphism, Single Nucleotide
    Chemische Substanzen HLA Antigens ; Aminopeptidases (EC 3.4.11.-) ; ERAP2 protein, human (EC 3.4.11.-)
    Sprache Englisch
    Erscheinungsdatum 2007-03
    Erscheinungsland England
    Dokumenttyp Clinical Trial ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 424427-8
    ISSN 1872-9142 ; 0161-5890
    ISSN (online) 1872-9142
    ISSN 0161-5890
    DOI 10.1016/j.molimm.2006.10.015
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  5. Artikel: Identification of susceptibility genes for complex diseases using pooling-based genome-wide association scans

    Bossé, Yohan / Bacot, François / Montpetit, Alexandre / Rung, Johan / Qu, Hui-Qi / Engert, James C / Polychronakos, Constantin / Hudson, Thomas J / Froguel, Philippe / Sladek, Robert / Desrosiers, Martin

    Human genetics. 2009 Apr., v. 125, no. 3

    2009  

    Abstract: The success of genome-wide association studies (GWAS) to identify risk loci of complex diseases is now well-established. One persistent major hurdle is the cost of those studies, which make them beyond the reach of most research groups. Performing GWAS ... ...

    Abstract The success of genome-wide association studies (GWAS) to identify risk loci of complex diseases is now well-established. One persistent major hurdle is the cost of those studies, which make them beyond the reach of most research groups. Performing GWAS on pools of DNA samples may be an effective strategy to reduce the costs of these studies. In this study, we performed pooling-based GWAS with more than 550,000 SNPs in two case-control cohorts consisting of patients with Type II diabetes (T2DM) and with chronic rhinosinusitis (CRS). In the T2DM study, the results of the pooling experiment were compared to individual genotypes obtained from a previously published GWAS. TCF7L2 and HHEX SNPs associated with T2DM by the traditional GWAS were among the top ranked SNPs in the pooling experiment. This dataset was also used to refine the best strategy to correctly identify SNPs that will remain significant based on individual genotyping. In the CRS study, the top hits from the pooling-based GWAS located within ten kilobases of known genes were validated by individual genotyping of 1,536 SNPs. Forty-one percent (598 out of the 1,457 SNPs that passed quality control) were associated with CRS at a nominal P value of 0.05, confirming the potential of pooling-based GWAS to identify SNPs that differ in allele frequencies between two groups of subjects. Overall, our results demonstrate that a pooling experiment on high-density genotyping arrays can accurately determine the minor allelic frequency as compared to individual genotyping and produce a list of top ranked SNPs that captures genuine allelic differences between a group of cases and controls. The low cost associated with a pooling-based GWAS clearly justifies its use in screening for genetic determinants of complex diseases.
    Sprache Englisch
    Erscheinungsverlauf 2009-04
    Umfang p. 305-318.
    Verlag Springer-Verlag
    Erscheinungsort Berlin/Heidelberg
    Dokumenttyp Artikel
    ZDB-ID 223009-4
    ISSN 1432-1203 ; 0340-6717
    ISSN (online) 1432-1203
    ISSN 0340-6717
    DOI 10.1007/s00439-009-0626-9
    Datenquelle NAL Katalog (AGRICOLA)

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  6. Artikel: Genetic control of alternative splicing in the TAP2 gene: possible implication in the genetics of type 1 diabetes.

    Qu, Hui-Qi / Lu, Yang / Marchand, Luc / Bacot, François / Fréchette, Rosalie / Tessier, Marie-Catherine / Montpetit, Alexandre / Polychronakos, Constantin

    Diabetes

    2007  Band 56, Heft 1, Seite(n) 270–275

    Abstract: The transporter 2, ATP-binding cassette, subfamily B (TAP2) is involved in the transport of antigenic peptides to HLA molecules. Coding TAP2 polymorphisms shows a strong association with type 1 diabetes, but it is not clear whether this association may ... ...

    Abstract The transporter 2, ATP-binding cassette, subfamily B (TAP2) is involved in the transport of antigenic peptides to HLA molecules. Coding TAP2 polymorphisms shows a strong association with type 1 diabetes, but it is not clear whether this association may be entirely due to linkage disequilibrium with HLA DR and DQ. Functionally, rat Tap2 nonsynonymous single-nucleotide polymorphisms (nsSNPs) confer differential selectivity for antigenic peptides, but this was not shown to be the case for human TAP2 nsSNPs. In the human, differential peptide selectivity is rather conferred by two splicing isoforms with alternative carboxy terminals. Here, we tested the hypothesis that alleles at the coding SNPs favor different splicing isoforms, thus determining peptide selectivity indirectly. This may be the basis for independent contribution to the type 1 diabetes association. In RNA from heterozygous lymphoblastoid lines, we measured the relative abundance of each SNP haplotype in each isoform. In isoform NM_000544, the G (Ala) allele at 665 Thr>Ala (rs241447) is more than twice as abundant as A (Thr) (GA = 2.2 +/- 0.4, P = 1.5 x 10(-4)), while isoform NM_018833 is derived almost exclusively from chromosomes carrying A (AG = 18.1 +/- 5.6, P = 2.04 x 10(-7)). In 889 Canadian children with type 1 diabetes, differential transmission of parental TAP2 alleles persisted (P = 0.011) when analysis was confined to chromosomes carrying only DQ*02 alleles, which mark a conserved DR-DQ haplotype, thus eliminating most of the variation at DR-DQ. Thus, we present evidence of TAP2 association with type 1 diabetes that is independent of HLA DR-DQ and describe a plausible functional mechanism based on allele dependence of splicing into isoforms known to have differential peptide selectivities.
    Mesh-Begriff(e) ATP-Binding Cassette Sub-Family B Member 2 ; ATP-Binding Cassette Transporters/genetics ; ATP-Binding Cassette, Sub-Family B, Member 3 ; Allelic Imbalance ; Alternative Splicing ; Base Sequence ; DNA/genetics ; Diabetes Mellitus, Type 1/genetics ; Humans ; Linkage Disequilibrium ; Polymorphism, Single Nucleotide
    Chemische Substanzen ATP-Binding Cassette Sub-Family B Member 2 ; ATP-Binding Cassette, Sub-Family B, Member 3 ; TAP1 protein, human ; TAP2 protein, human (145892-13-3) ; DNA (9007-49-2)
    Sprache Englisch
    Erscheinungsdatum 2007-01
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 80085-5
    ISSN 1939-327X ; 0012-1797
    ISSN (online) 1939-327X
    ISSN 0012-1797
    DOI 10.2337/db06-0865
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  7. Artikel ; Online: Identification of susceptibility genes for complex diseases using pooling-based genome-wide association scans.

    Bossé, Yohan / Bacot, François / Montpetit, Alexandre / Rung, Johan / Qu, Hui-Qi / Engert, James C / Polychronakos, Constantin / Hudson, Thomas J / Froguel, Philippe / Sladek, Robert / Desrosiers, Martin

    Human genetics

    2009  Band 125, Heft 3, Seite(n) 305–318

    Abstract: The success of genome-wide association studies (GWAS) to identify risk loci of complex diseases is now well-established. One persistent major hurdle is the cost of those studies, which make them beyond the reach of most research groups. Performing GWAS ... ...

    Abstract The success of genome-wide association studies (GWAS) to identify risk loci of complex diseases is now well-established. One persistent major hurdle is the cost of those studies, which make them beyond the reach of most research groups. Performing GWAS on pools of DNA samples may be an effective strategy to reduce the costs of these studies. In this study, we performed pooling-based GWAS with more than 550,000 SNPs in two case-control cohorts consisting of patients with Type II diabetes (T2DM) and with chronic rhinosinusitis (CRS). In the T2DM study, the results of the pooling experiment were compared to individual genotypes obtained from a previously published GWAS. TCF7L2 and HHEX SNPs associated with T2DM by the traditional GWAS were among the top ranked SNPs in the pooling experiment. This dataset was also used to refine the best strategy to correctly identify SNPs that will remain significant based on individual genotyping. In the CRS study, the top hits from the pooling-based GWAS located within ten kilobases of known genes were validated by individual genotyping of 1,536 SNPs. Forty-one percent (598 out of the 1,457 SNPs that passed quality control) were associated with CRS at a nominal P value of 0.05, confirming the potential of pooling-based GWAS to identify SNPs that differ in allele frequencies between two groups of subjects. Overall, our results demonstrate that a pooling experiment on high-density genotyping arrays can accurately determine the minor allelic frequency as compared to individual genotyping and produce a list of top ranked SNPs that captures genuine allelic differences between a group of cases and controls. The low cost associated with a pooling-based GWAS clearly justifies its use in screening for genetic determinants of complex diseases.
    Mesh-Begriff(e) Alleles ; Case-Control Studies ; Chronic Disease ; Cohort Studies ; DNA/genetics ; DNA/isolation & purification ; Diabetes Mellitus, Type 2/genetics ; Gene Frequency ; Genetic Predisposition to Disease ; Genome-Wide Association Study/methods ; Genome-Wide Association Study/statistics & numerical data ; Humans ; Models, Genetic ; Polymorphism, Single Nucleotide ; Rhinitis/genetics ; Sinusitis/genetics
    Chemische Substanzen DNA (9007-49-2)
    Sprache Englisch
    Erscheinungsdatum 2009-01-29
    Erscheinungsland Germany
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 223009-4
    ISSN 1432-1203 ; 0340-6717
    ISSN (online) 1432-1203
    ISSN 0340-6717
    DOI 10.1007/s00439-009-0626-9
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  8. Artikel ; Online: The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers.

    Amos, Christopher I / Dennis, Joe / Wang, Zhaoming / Byun, Jinyoung / Schumacher, Fredrick R / Gayther, Simon A / Casey, Graham / Hunter, David J / Sellers, Thomas A / Gruber, Stephen B / Dunning, Alison M / Michailidou, Kyriaki / Fachal, Laura / Doheny, Kimberly / Spurdle, Amanda B / Li, Yafang / Xiao, Xiangjun / Romm, Jane / Pugh, Elizabeth /
    Coetzee, Gerhard A / Hazelett, Dennis J / Bojesen, Stig E / Caga-Anan, Charlisse / Haiman, Christopher A / Kamal, Ahsan / Luccarini, Craig / Tessier, Daniel / Vincent, Daniel / Bacot, François / Van Den Berg, David J / Nelson, Stefanie / Demetriades, Stephen / Goldgar, David E / Couch, Fergus J / Forman, Judith L / Giles, Graham G / Conti, David V / Bickeböller, Heike / Risch, Angela / Waldenberger, Melanie / Brüske-Hohlfeld, Irene / Hicks, Belynda D / Ling, Hua / McGuffog, Lesley / Lee, Andrew / Kuchenbaecker, Karoline / Soucy, Penny / Manz, Judith / Cunningham, Julie M / Butterbach, Katja / Kote-Jarai, Zsofia / Kraft, Peter / FitzGerald, Liesel / Lindström, Sara / Adams, Marcia / McKay, James D / Phelan, Catherine M / Benlloch, Sara / Kelemen, Linda E / Brennan, Paul / Riggan, Marjorie / O'Mara, Tracy A / Shen, Hongbing / Shi, Yongyong / Thompson, Deborah J / Goodman, Marc T / Nielsen, Sune F / Berchuck, Andrew / Laboissiere, Sylvie / Schmit, Stephanie L / Shelford, Tameka / Edlund, Christopher K / Taylor, Jack A / Field, John K / Park, Sue K / Offit, Kenneth / Thomassen, Mads / Schmutzler, Rita / Ottini, Laura / Hung, Rayjean J / Marchini, Jonathan / Amin Al Olama, Ali / Peters, Ulrike / Eeles, Rosalind A / Seldin, Michael F / Gillanders, Elizabeth / Seminara, Daniela / Antoniou, Antonis C / Pharoah, Paul D P / Chenevix-Trench, Georgia / Chanock, Stephen J / Simard, Jacques / Easton, Douglas F

    Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology

    2016  Band 26, Heft 1, Seite(n) 126–135

    Abstract: Background: Common cancers develop through a multistep process often including inherited susceptibility. Collaboration among multiple institutions, and funding from multiple sources, has allowed the development of an inexpensive genotyping microarray, ... ...

    Abstract Background: Common cancers develop through a multistep process often including inherited susceptibility. Collaboration among multiple institutions, and funding from multiple sources, has allowed the development of an inexpensive genotyping microarray, the OncoArray. The array includes a genome-wide backbone, comprising 230,000 SNPs tagging most common genetic variants, together with dense mapping of known susceptibility regions, rare variants from sequencing experiments, pharmacogenetic markers, and cancer-related traits.
    Methods: The OncoArray can be genotyped using a novel technology developed by Illumina to facilitate efficient genotyping. The consortium developed standard approaches for selecting SNPs for study, for quality control of markers, and for ancestry analysis. The array was genotyped at selected sites and with prespecified replicate samples to permit evaluation of genotyping accuracy among centers and by ethnic background.
    Results: The OncoArray consortium genotyped 447,705 samples. A total of 494,763 SNPs passed quality control steps with a sample success rate of 97% of the samples. Participating sites performed ancestry analysis using a common set of markers and a scoring algorithm based on principal components analysis.
    Conclusions: Results from these analyses will enable researchers to identify new susceptibility loci, perform fine-mapping of new or known loci associated with either single or multiple cancers, assess the degree of overlap in cancer causation and pleiotropic effects of loci that have been identified for disease-specific risk, and jointly model genetic, environmental, and lifestyle-related exposures.
    Impact: Ongoing analyses will shed light on etiology and risk assessment for many types of cancer. Cancer Epidemiol Biomarkers Prev; 26(1); 126-35. ©2016 AACR.
    Mesh-Begriff(e) Female ; Genetic Predisposition to Disease/epidemiology ; Genetic Variation/genetics ; Genome-Wide Association Study/methods ; Genotype ; Humans ; Male ; Neoplasms/epidemiology ; Neoplasms/genetics ; Neoplasms/physiopathology ; Polymorphism, Single Nucleotide/genetics ; Prevalence ; Prognosis ; Risk Assessment ; Selection, Genetic
    Sprache Englisch
    Erscheinungsdatum 2016-10-03
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Review ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural
    ZDB-ID 1153420-5
    ISSN 1538-7755 ; 1055-9965
    ISSN (online) 1538-7755
    ISSN 1055-9965
    DOI 10.1158/1055-9965.EPI-16-0106
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  9. Artikel ; Online: Common genetic determinants of breast-cancer risk in East Asian women: a collaborative study of 23 637 breast cancer cases and 25 579 controls.

    Zheng, Wei / Zhang, Ben / Cai, Qiuyin / Sung, Hyuna / Michailidou, Kyriaki / Shi, Jiajun / Choi, Ji-Yeob / Long, Jirong / Dennis, Joe / Humphreys, Manjeet K / Wang, Qin / Lu, Wei / Gao, Yu-Tang / Li, Chun / Cai, Hui / Park, Sue K / Yoo, Keun-Young / Noh, Dong-Young / Han, Wonshik /
    Dunning, Alison M / Benitez, Javier / Vincent, Daniel / Bacot, Francois / Tessier, Daniel / Kim, Sung-Won / Lee, Min Hyuk / Lee, Jong Won / Lee, Jong-Young / Xiang, Yong-Bing / Zheng, Ying / Wang, Wenjin / Ji, Bu-Tian / Matsuo, Keitaro / Ito, Hidemi / Iwata, Hiroji / Tanaka, Hideo / Wu, Anna H / Tseng, Chiu-chen / Van Den Berg, David / Stram, Daniel O / Teo, Soo Hwang / Yip, Cheng Har / Kang, In Nee / Wong, Tien Y / Shen, Chen-Yang / Yu, Jyh-Cherng / Huang, Chiun-Sheng / Hou, Ming-Feng / Hartman, Mikael / Miao, Hui / Lee, Soo Chin / Putti, Thomas Choudary / Muir, Kenneth / Lophatananon, Artitaya / Stewart-Brown, Sarah / Siriwanarangsan, Pornthep / Sangrajrang, Suleeporn / Shen, Hongbing / Chen, Kexin / Wu, Pei-Ei / Ren, Zefang / Haiman, Christopher A / Sueta, Aiko / Kim, Mi Kyung / Khoo, Ui Soon / Iwasaki, Motoki / Pharoah, Paul D P / Wen, Wanqing / Hall, Per / Shu, Xiao-Ou / Easton, Douglas F / Kang, Daehee

    Human molecular genetics

    2013  Band 22, Heft 12, Seite(n) 2539–2550

    Abstract: In a consortium including 23 637 breast cancer patients and 25 579 controls of East Asian ancestry, we investigated 70 single-nucleotide polymorphisms (SNPs) in 67 independent breast cancer susceptibility loci recently identified by genome-wide ... ...

    Abstract In a consortium including 23 637 breast cancer patients and 25 579 controls of East Asian ancestry, we investigated 70 single-nucleotide polymorphisms (SNPs) in 67 independent breast cancer susceptibility loci recently identified by genome-wide association studies (GWASs) conducted primarily in European-ancestry populations. SNPs in 31 loci showed an association with breast cancer risk at P < 0.05 in a direction consistent with that reported previously. Twenty-one of them remained statistically significant after adjusting for multiple comparisons with the Bonferroni-corrected significance level of <0.0015. Eight of the 70 SNPs showed a significantly different association with breast cancer risk by estrogen receptor (ER) status at P < 0.05. With the exception of rs2046210 at 6q25.1, the seven other SNPs showed a stronger association with ER-positive than ER-negative cancer. This study replicated all five genetic risk variants initially identified in Asians and provided evidence for associations of breast cancer risk in the East Asian population with nearly half of the genetic risk variants initially reported in GWASs conducted in European descendants. Taken together, these common genetic risk variants explain ~10% of excess familial risk of breast cancer in Asian populations.
    Mesh-Begriff(e) Adult ; Aged ; Asian People/genetics ; Breast Neoplasms/genetics ; Case-Control Studies ; China ; Female ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Middle Aged ; Polymorphism, Single Nucleotide ; Receptors, Estrogen/genetics ; Republic of Korea
    Chemische Substanzen Receptors, Estrogen
    Sprache Englisch
    Erscheinungsdatum 2013-03-27
    Erscheinungsland England
    Dokumenttyp 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 1108742-0
    ISSN 1460-2083 ; 0964-6906
    ISSN (online) 1460-2083
    ISSN 0964-6906
    DOI 10.1093/hmg/ddt089
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  10. Artikel ; Online: Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia.

    Rung, Johan / Cauchi, Stéphane / Albrechtsen, Anders / Shen, Lishuang / Rocheleau, Ghislain / Cavalcanti-Proença, Christine / Bacot, François / Balkau, Beverley / Belisle, Alexandre / Borch-Johnsen, Knut / Charpentier, Guillaume / Dina, Christian / Durand, Emmanuelle / Elliott, Paul / Hadjadj, Samy / Järvelin, Marjo-Riitta / Laitinen, Jaana / Lauritzen, Torsten / Marre, Michel /
    Mazur, Alexander / Meyre, David / Montpetit, Alexandre / Pisinger, Charlotta / Posner, Barry / Poulsen, Pernille / Pouta, Anneli / Prentki, Marc / Ribel-Madsen, Rasmus / Ruokonen, Aimo / Sandbaek, Anelli / Serre, David / Tichet, Jean / Vaxillaire, Martine / Wojtaszewski, Jørgen F P / Vaag, Allan / Hansen, Torben / Polychronakos, Constantin / Pedersen, Oluf / Froguel, Philippe / Sladek, Robert

    Nature genetics

    2009  Band 41, Heft 10, Seite(n) 1110–1115

    Abstract: Genome-wide association studies have identified common variants that only partially explain the genetic risk for type 2 diabetes (T2D). Using genome-wide association data from 1,376 French individuals, we identified 16,360 SNPs nominally associated with ... ...

    Abstract Genome-wide association studies have identified common variants that only partially explain the genetic risk for type 2 diabetes (T2D). Using genome-wide association data from 1,376 French individuals, we identified 16,360 SNPs nominally associated with T2D and studied these SNPs in an independent sample of 4,977 French individuals. We then selected the 28 best hits for replication in 7,698 Danish subjects and identified 4 SNPs showing strong association with T2D, one of which (rs2943641, P = 9.3 x 10(-12), OR = 1.19) was located adjacent to the insulin receptor substrate 1 gene (IRS1). Unlike previously reported T2D risk loci, which predominantly associate with impaired beta cell function, the C allele of rs2943641 was associated with insulin resistance and hyperinsulinemia in 14,358 French, Danish and Finnish participants from population-based cohorts; this allele was also associated with reduced basal levels of IRS1 protein and decreased insulin induction of IRS1-associated phosphatidylinositol-3-OH kinase activity in human skeletal muscle biopsies.
    Mesh-Begriff(e) Adult ; Alleles ; Biopsy ; Diabetes Mellitus, Type 2/complications ; Diabetes Mellitus, Type 2/genetics ; Diabetes Mellitus, Type 2/metabolism ; Diabetes Mellitus, Type 2/pathology ; European Continental Ancestry Group/genetics ; Female ; Genome, Human ; Genome-Wide Association Study ; Humans ; Hyperinsulinism/complications ; Hyperinsulinism/genetics ; Hyperinsulinism/metabolism ; Hyperinsulinism/pathology ; Insulin Receptor Substrate Proteins/genetics ; Insulin Resistance ; Male ; Middle Aged ; Muscle, Skeletal/metabolism ; Muscle, Skeletal/pathology ; Phosphatidylinositol 3-Kinases/metabolism ; Polymorphism, Single Nucleotide
    Chemische Substanzen IRS1 protein, human ; Insulin Receptor Substrate Proteins ; Phosphatidylinositol 3-Kinases (EC 2.7.1.-)
    Sprache Englisch
    Erscheinungsdatum 2009-09-06
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/ng.443
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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