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  1. AU="Eric Jorgenson"
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  1. Article ; Online: Genome-wide association study of actinic keratosis identifies new susceptibility loci implicated in pigmentation and immune regulation pathways

    Yuhree Kim / Jie Yin / Hailiang Huang / Eric Jorgenson / Hélène Choquet / Maryam M. Asgari

    Communications Biology, Vol 5, Iss 1, Pp 1-

    2022  Volume 9

    Abstract: A study on actinic keratosis identifies multiple loci showing genome-wide significant association with implicated genes within biological pathways for pigmentation, immune regulation, and extracellular matrix homeostasis. ...

    Abstract A study on actinic keratosis identifies multiple loci showing genome-wide significant association with implicated genes within biological pathways for pigmentation, immune regulation, and extracellular matrix homeostasis.
    Keywords Biology (General) ; QH301-705.5
    Language English
    Publishing date 2022-04-01T00:00:00Z
    Publisher Nature Portfolio
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: Multi-ancestry genome-wide meta-analysis identifies novel basal cell carcinoma loci and shared genetic effects with squamous cell carcinoma

    Hélène Choquet / Chen Jiang / Jie Yin / Yuhree Kim / Thomas J. Hoffmann / 23andMe Research Team / Eric Jorgenson / Maryam M. Asgari

    Communications Biology, Vol 7, Iss 1, Pp 1-

    2024  Volume 10

    Abstract: Abstract Basal cell carcinoma (BCC) is one of the most common malignancies worldwide, yet its genetic determinants are incompletely defined. We perform a European ancestry genome-wide association (GWA) meta-analysis and a Hispanic/Latino ancestry GWA ... ...

    Abstract Abstract Basal cell carcinoma (BCC) is one of the most common malignancies worldwide, yet its genetic determinants are incompletely defined. We perform a European ancestry genome-wide association (GWA) meta-analysis and a Hispanic/Latino ancestry GWA meta-analysis and meta-analyze both in a multi-ancestry GWAS meta-analysis of BCC, totaling 50,531 BCC cases and 762,234 controls from four cohorts (GERA, Mass-General Brigham Biobank, UK Biobank, and 23andMe research cohort). Here we identify 122 BCC-associated loci, of which 36 were novel, and subsequently fine-mapped these associations. We also identify an association of the well-known pigment gene SLC45A2 as well as associations at RCC2 and CLPTM1L with BCC in Hispanic/Latinos. We examine these BCC loci for association with cutaneous squamous cell carcinoma (cSCC) in 16,407 SCC cases and 762,486 controls of European ancestry, and 33 SNPs show evidence of association. Our study findings provide important insights into the genetic basis of BCC and cSCC susceptibility.
    Keywords Biology (General) ; QH301-705.5
    Subject code 616
    Language English
    Publishing date 2024-01-01T00:00:00Z
    Publisher Nature Portfolio
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article ; Online: MiXcan

    Xiaoyu Song / Jiayi Ji / Joseph H. Rothstein / Stacey E. Alexeeff / Lori C. Sakoda / Adriana Sistig / Ninah Achacoso / Eric Jorgenson / Alice S. Whittemore / Robert J. Klein / Laurel A. Habel / Pei Wang / Weiva Sieh

    Nature Communications, Vol 14, Iss 1, Pp 1-

    a framework for cell-type-aware transcriptome-wide association studies with an application to breast cancer

    2023  Volume 15

    Abstract: Conventional transcriptome-wide association study (TWAS) approaches predict genetically regulated gene expression at the tissue level. Here, the authors develop a framework for cell-type-aware TWAS that predicts cell-type level expression from genotype ... ...

    Abstract Conventional transcriptome-wide association study (TWAS) approaches predict genetically regulated gene expression at the tissue level. Here, the authors develop a framework for cell-type-aware TWAS that predicts cell-type level expression from genotype data and identifies disease-associated genes with cell-type-specific effects.
    Keywords Science ; Q
    Language English
    Publishing date 2023-01-01T00:00:00Z
    Publisher Nature Portfolio
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article ; Online: Contribution of common PCSK1 genetic variants to obesity in 8,359 subjects from multi-ethnic American population.

    Hélène Choquet / Jay Kasberger / Ajna Hamidovic / Eric Jorgenson

    PLoS ONE, Vol 8, Iss 2, p e

    2013  Volume 57857

    Abstract: Common PCSK1 variants (notably rs6232 and rs6235) have been shown to be associated with obesity in European, Asian and Mexican populations. To determine whether common PCSK1 variants contribute to obesity in American population, we conducted association ... ...

    Abstract Common PCSK1 variants (notably rs6232 and rs6235) have been shown to be associated with obesity in European, Asian and Mexican populations. To determine whether common PCSK1 variants contribute to obesity in American population, we conducted association analyses in 8,359 subjects using two multi-ethnic American studies: the Coronary Artery Risk Development in Young Adults (CARDIA) study and the Multi-Ethnic Study of Atherosclerosis (MESA). By evaluating the contribution of rs6232 and rs6235 in each ethnic group, we found that in European-American subjects from CARDIA, only rs6232 was associated with BMI (P = 0.006) and obesity (P = 0.018) but also increased the obesity incidence during the 20 years of follow-up (HR = 1.53 [1.07-2.19], P = 0.019). Alternatively, in African-American subjects from CARDIA, rs6235 was associated with BMI (P = 0.028) and obesity (P = 0.018). Further, by combining the two case-control ethnic groups from the CARDIA study in a meta-analysis, association between rs6235 and obesity risk remained significant (OR = 1.23 [1.05-1.45], P = 9.5×10(-3)). However, neither rs6232 nor rs6235 was associated with BMI or obesity in the MESA study. Interestingly, rs6232 was associated with BMI (P = 4.2×10(-3)) and obesity (P = 3.4×10(-3)) in the younger European-American group combining samples from the both studies [less than median age (53 years)], but not among the older age group (P = 0.756 and P = 0.935 for BMI and obesity, respectively). By combining all the case-control ethnic groups from CARDIA and MESA in a meta-analysis, we found no significant association for the both variants and obesity risk. Finally, by exploring the full PCSK1 locus, we observed that no variant remained significant after correction for multiple testing. These results indicate that common PCSK1 variants (notably rs6232 and rs6235) contribute modestly to obesity in multi-ethnic American population. Further, these results suggest that the association of rs6232 with obesity may be age-dependent in European-Americans. However, ...
    Keywords Medicine ; R ; Science ; Q
    Subject code 390
    Language English
    Publishing date 2013-01-01T00:00:00Z
    Publisher Public Library of Science (PLoS)
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  5. Article ; Online: New and sex-specific migraine susceptibility loci identified from a multiethnic genome-wide meta-analysis

    Hélène Choquet / Jie Yin / Alice S. Jacobson / Brandon H. Horton / Thomas J. Hoffmann / Eric Jorgenson / Andrew L. Avins / Alice R. Pressman

    Communications Biology, Vol 4, Iss 1, Pp 1-

    2021  Volume 9

    Abstract: Hélène Choquet et al. identify novel loci associated with migraine in a large multiethnic genome-wide meta-analysis. They find 79 loci associated with migraine, including 45 which have not been previously reported and 3 that were specific to women, and ... ...

    Abstract Hélène Choquet et al. identify novel loci associated with migraine in a large multiethnic genome-wide meta-analysis. They find 79 loci associated with migraine, including 45 which have not been previously reported and 3 that were specific to women, and which may lead to an improved understanding of migraine etiology.
    Keywords Biology (General) ; QH301-705.5
    Language English
    Publishing date 2021-07-01T00:00:00Z
    Publisher Nature Portfolio
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  6. Article ; Online: Weighted Multi-marker Genetic Risk Scores for Incident Coronary Heart Disease among Individuals of African, Latino and East-Asian Ancestry

    Carlos Iribarren / Meng Lu / Eric Jorgenson / Manuel Martínez / Carla Lluis-Ganella / Isaac Subirana / Eduardo Salas / Roberto Elosua

    Scientific Reports, Vol 8, Iss 1, Pp 1-

    2018  Volume 13

    Abstract: Abstract We examined the clinical utility of two multi-locus genetic risk scores (GRSs) previously validated in Europeans among persons of African (AFR; n = 2,089), Latino (LAT; n = 4,349) and East-Asian (EA; n = 4,804) ancestry. We used data from the ... ...

    Abstract Abstract We examined the clinical utility of two multi-locus genetic risk scores (GRSs) previously validated in Europeans among persons of African (AFR; n = 2,089), Latino (LAT; n = 4,349) and East-Asian (EA; n = 4,804) ancestry. We used data from the GERA cohort (30–79 years old, 68 to 73% female). We utilized two GRSs with 12 and 51 SNPs, respectively, and the Framingham Risk Score (FRS) to estimate 10-year CHD risk. After a median 8.7 years of follow-up, 450 incident CHD events were documented (95 in AFR, 316 in LAT and 39 EA, respectively). In a model adjusting for principal components and risk factors, tertile 3 vs. tertile 1 of GRS_12 was associated with 1.86 (95% CI, 1.15–3.01), 1.52 (95% CI, 1.02–2.25) and 1.19 (95% CI, 0.77–1.83) increased hazard of CHD in AFR, LAT and EA, respectively. Inclusion of the GRSs in models containing the FRS did not increase the C-statistic but resulted in net overall reclassification of 10% of AFR, 7% LAT and EA and in reclassification of 13% of AFR and EA as well as 10% LAT in the intermediate FRS risk subset. Our results support the usefulness of incorporating genetic information into risk assessment for primary prevention among minority subjects in the U.S.
    Keywords Medicine ; R ; Science ; Q
    Subject code 610
    Language English
    Publishing date 2018-05-01T00:00:00Z
    Publisher Nature Portfolio
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  7. Article ; Online: Genetic ancestry, skin pigmentation, and the risk of cutaneous squamous cell carcinoma in Hispanic/Latino and non-Hispanic white populations

    Eric Jorgenson / Hélène Choquet / Jie Yin / Thomas J. Hoffmann / Yambazi Banda / Mark N. Kvale / Neil Risch / Catherine Schaefer / Maryam M. Asgari

    Communications Biology, Vol 3, Iss 1, Pp 1-

    2020  Volume 9

    Abstract: Eric Jorgenson and Hélène Choquet et al. find that northwestern European genetic ancestry is ...

    Abstract Eric Jorgenson and Hélène Choquet et al. find that northwestern European genetic ancestry is associated with increased risk of cutaneous squamous cell carcinoma (cSCC) in non-Hispanic whites, and more so in Hispanic/Latinos of the US. The ancestry effect is largely, but not entirely explained by genetic determinants of skin pigmentation in both populations.
    Keywords Biology (General) ; QH301-705.5
    Language English
    Publishing date 2020-12-01T00:00:00Z
    Publisher Nature Portfolio
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  8. Article ; Online: A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects

    Hélène Choquet / Ronald B. Melles / Deepti Anand / Jie Yin / Gabriel Cuellar-Partida / Wei Wang / 23andMe Research Team / Thomas J. Hoffmann / K. Saidas Nair / Pirro G. Hysi / Salil A. Lachke / Eric Jorgenson

    Nature Communications, Vol 12, Iss 1, Pp 1-

    2021  Volume 12

    Abstract: The genetic basis of cataract is not well understood. Here, the authors perform a genome-wide association multiethnic meta-analysis of cataract, finding 37 new loci and replicating known and new loci. They additionally perform sex-specific analyses, ... ...

    Abstract The genetic basis of cataract is not well understood. Here, the authors perform a genome-wide association multiethnic meta-analysis of cataract, finding 37 new loci and replicating known and new loci. They additionally perform sex-specific analyses, identifying new associations specific to women.
    Keywords Science ; Q
    Language English
    Publishing date 2021-06-01T00:00:00Z
    Publisher Nature Portfolio
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  9. Article ; Online: A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness

    Hélène Choquet / Ronald B. Melles / Jie Yin / Thomas J. Hoffmann / Khanh K. Thai / Mark N. Kvale / Yambazi Banda / Alison J. Hardcastle / Stephen J. Tuft / M. Maria Glymour / Catherine Schaefer / Neil Risch / K. Saidas Nair / Pirro G. Hysi / Eric Jorgenson

    Communications Biology, Vol 3, Iss 1, Pp 1-

    2020  Volume 10

    Abstract: Hélène Choquet et al. report the largest genome-wide analysis of central corneal thickness (CCT) to date, finding novel associations at 41 loci. The study, which includes individuals from 4 ethnic groups, including African Americans and Hispanic/Latino ... ...

    Abstract Hélène Choquet et al. report the largest genome-wide analysis of central corneal thickness (CCT) to date, finding novel associations at 41 loci. The study, which includes individuals from 4 ethnic groups, including African Americans and Hispanic/Latino individuals, increases the variance explained for CCT from 8.5% to 14.2%. Study findings also suggest that thinner CCT does not causally increase the risk of primary open-angle glaucoma.
    Keywords Biology (General) ; QH301-705.5
    Language English
    Publishing date 2020-06-01T00:00:00Z
    Publisher Nature Publishing Group
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  10. Article ; Online: GLIS1 regulates trabecular meshwork function and intraocular pressure and is associated with glaucoma in humans

    K. Saidas Nair / Chitrangda Srivastava / Robert V. Brown / Swanand Koli / Hélène Choquet / Hong Soon Kang / Yien-Ming Kuo / Sara A. Grimm / Caleb Sutherland / Alexandra Badea / G. Allan Johnson / Yin Zhao / Jie Yin / Kyoko Okamoto / Graham Clark / Terete Borrás / Gulab Zode / Krishnakumar Kizhatil / Subhabrata Chakrabarti /
    Simon W. M. John / Eric Jorgenson / Anton M. Jetten

    Nature Communications, Vol 12, Iss 1, Pp 1-

    2021  Volume 15

    Abstract: Dysfunction of the trabecular meshwork (TM) is the chief cause of elevated intraocular pressure, the major risk factor of glaucoma. Here, the authors identify the transcription factor, GLIS1, as a critical regulator of TM maintenance and intraocular ... ...

    Abstract Dysfunction of the trabecular meshwork (TM) is the chief cause of elevated intraocular pressure, the major risk factor of glaucoma. Here, the authors identify the transcription factor, GLIS1, as a critical regulator of TM maintenance and intraocular pressure, and as a glaucoma risk gene.
    Keywords Science ; Q
    Language English
    Publishing date 2021-08-01T00:00:00Z
    Publisher Nature Portfolio
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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