Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort

Journal of Medical Genetics
Iván Galván-FemeníaRafael de Cid

Abstract

Heritability estimates have revealed an important contribution of SNP variants for most common traits; however, SNP analysis by single-trait genome-wide association studies (GWAS) has failed to uncover their impact. In this study, we applied a multitrait GWAS approach to discover additional factor of the missing heritability of human anthropometric variation. We analysed 205 traits, including diseases identified at baseline in the GCAT cohort (Genomes For Life- Cohort study of the Genomes of Catalonia) (n=4988), a Mediterranean adult population-based cohort study from the south of Europe. We estimated SNP heritability contribution and single-trait GWAS for all traits from 15 million SNP variants. Then, we applied a multitrait-related approach to study genome-wide association to anthropometric measures in a two-stage meta-analysis with the UK Biobank cohort (n=336 107). Heritability estimates (eg, skin colour, alcohol consumption, smoking habit, body mass index, educational level or height) revealed an important contribution of SNP variants, ranging from 18% to 77%. Single-trait analysis identified 1785 SNPs with genome-wide significance threshold. From these, several previously reported single-trait hits were confirmed in our s...Continue Reading

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Citations

May 10, 2019·Frontiers in Genetics·Jan GraffelmanCarles Barceló Vidal
Jan 17, 2021·Heredity·Iván Galván-FemeníaJan Graffelman
Jan 13, 2021·Journal of Personalized Medicine·Nayoung HanIn-Wha Kim
Jun 20, 2020·The New England Journal of Medicine·UNKNOWN Severe Covid-19 GWAS GroupTom H Karlsen
Feb 20, 2021·Scientific Reports·Mateus H GouveiaCharles N Rotimi
Jan 14, 2021·Human Molecular Genetics·Yuanqing FengSarah A Tishkoff

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Methods Mentioned

BETA
genotyping
Genotyping Array
PCA

Software Mentioned

GCTA
PLINK
GCAT
R
CPASSOC
IMPUTE2
Variant Effect Predictor
UK
SPAtest R
Polygenic risk score PRSice

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