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Tytuł pozycji:

A comprehensive survey of genetic variation in 20,691 subjects from four large cohorts.

Tytuł:
A comprehensive survey of genetic variation in 20,691 subjects from four large cohorts.
Autorzy:
Sara Lindström
Stephanie Loomis
Constance Turman
Hongyan Huang
Jinyan Huang
Hugues Aschard
Andrew T Chan
Hyon Choi
Marilyn Cornelis
Gary Curhan
Immaculata De Vivo
A Heather Eliassen
Charles Fuchs
Michael Gaziano
Susan E Hankinson
Frank Hu
Majken Jensen
Jae H Kang
Christopher Kabrhel
Liming Liang
Louis R Pasquale
Eric Rimm
Meir J Stampfer
Rulla M Tamimi
Shelley S Tworoger
Janey L Wiggs
David J Hunter
Peter Kraft
Temat:
Medicine
Science
Źródło:
PLoS ONE, Vol 12, Iss 3, p e0173997 (2017)
Wydawca:
Public Library of Science (PLoS), 2017.
Rok publikacji:
2017
Kolekcja:
LCC:Medicine
LCC:Science
Typ dokumentu:
article
Opis pliku:
electronic resource
Język:
English
ISSN:
1932-6203
Relacje:
https://doaj.org/toc/1932-6203
DOI:
10.1371/journal.pone.0173997
Dostęp URL:
https://doaj.org/article/8949b443834642169dd9738eeb58d30a  Link otwiera się w nowym oknie
Numer akcesji:
edsdoj.8949b443834642169dd9738eeb58d30a
Czasopismo naukowe
The Nurses' Health Study (NHS), Nurses' Health Study II (NHSII), Health Professionals Follow Up Study (HPFS) and the Physicians Health Study (PHS) have collected detailed longitudinal data on multiple exposures and traits for approximately 310,000 study participants over the last 35 years. Over 160,000 study participants across the cohorts have donated a DNA sample and to date, 20,691 subjects have been genotyped as part of genome-wide association studies (GWAS) of twelve primary outcomes. However, these studies utilized six different GWAS arrays making it difficult to conduct analyses of secondary phenotypes or share controls across studies. To allow for secondary analyses of these data, we have created three new datasets merged by platform family and performed imputation using a common reference panel, the 1,000 Genomes Phase I release. Here, we describe the methodology behind the data merging and imputation and present imputation quality statistics and association results from two GWAS of secondary phenotypes (body mass index (BMI) and venous thromboembolism (VTE)). We observed the strongest BMI association for the FTO SNP rs55872725 (β = 0.45, p = 3.48x10-22), and using a significance level of p = 0.05, we replicated 19 out of 32 known BMI SNPs. For VTE, we observed the strongest association for the rs2040445 SNP (OR = 2.17, 95% CI: 1.79-2.63, p = 2.70x10-15), located downstream of F5 and also observed significant associations for the known ABO and F11 regions. This pooled resource can be used to maximize power in GWAS of phenotypes collected across the cohorts and for studying gene-environment interactions as well as rare phenotypes and genotypes.

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