Genome-wide association analysis of metabolic traits in a birth cohort from a founder population

Sabatti, Chiara, Service, Susan K., Hartikainen, Anna-Liisa, Pouta, Anneli, Ripatti, Samuli, Brodsky, Jae, Jones, Chris G., Zaitlen, Noah A., Varilo, Teppo, Kaakinen, Marika, Sovio, Ulla, Ruokonen, Aimo, Laitinen, Jaana, Jakkula, Eveliina, Coin, Lachlan, Hoggart, Clive, Collins, Andrew, Turunen, Hannu, Gabriel, Stacey, Elliot, Paul, McCarthy, Mark I., Daly, Mark J., Jarvelin, Marjo-Riitta, Freimer, Nelson B. and Peltonen, Leena (2009) Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. Nature Genetics, 41 1: 35-46. doi:10.1038/ng.271

Author Sabatti, Chiara
Service, Susan K.
Hartikainen, Anna-Liisa
Pouta, Anneli
Ripatti, Samuli
Brodsky, Jae
Jones, Chris G.
Zaitlen, Noah A.
Varilo, Teppo
Kaakinen, Marika
Sovio, Ulla
Ruokonen, Aimo
Laitinen, Jaana
Jakkula, Eveliina
Coin, Lachlan
Hoggart, Clive
Collins, Andrew
Turunen, Hannu
Gabriel, Stacey
Elliot, Paul
McCarthy, Mark I.
Daly, Mark J.
Jarvelin, Marjo-Riitta
Freimer, Nelson B.
Peltonen, Leena
Title Genome-wide association analysis of metabolic traits in a birth cohort from a founder population
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
Publication date 2009-01-01
Year available 2009
Sub-type Article (original research)
DOI 10.1038/ng.271
Open Access Status Not yet assessed
Volume 41
Issue 1
Start page 35
End page 46
Total pages 12
Place of publication New York, NY, United States
Publisher Nature Publishing
Language eng
Subject 1311 Genetics
Abstract Genome-wide association studies (GWAS) of longitudinal birth cohorts enable joint investigation of environmental and genetic influences on complex traits. We report GWAS results for nine quantitative metabolic traits (triglycerides, high-density lipoprotein, low-density lipoprotein, glucose, insulin, C-reactive protein, body mass index, and systolic and diastolic blood pressure) in the Northern Finland Birth Cohort 1966 (NFBC1966), drawn from the most genetically isolated Finnish regions. We replicate most previously reported associations for these traits and identify nine new associations, several of which highlight genes with metabolic functions: high-density lipoprotein with NR1H3 (LXRA), low-density lipoprotein with AR and FADS1-FADS2, glucose with MTNR1B, and insulin with PANK1. Two of these new associations emerged after adjustment of results for body mass index. Gene-environment interaction analyses suggested additional associations, which will require validation in larger samples. The currently identified loci, together with quantified environmental exposures, explain little of the trait variation in NFBC1966. The association observed between low-density lipoprotein and an infrequent variant in AR suggests the potential of such a cohort for identifying associations with both common, low-impact and rarer, high-impact quantitative trait loci.
Keyword Genetics & Heredity
Genetics & Heredity
Q-Index Code C1
Q-Index Status Provisional Code
Grant ID U54 RR020278
T32 HG002536
R01 HL087679
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: Institute for Molecular Bioscience - Publications
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