Large-scale data analysis on endometriosis from the UK Biobank reveals novel genetic loci

Endometriosis is a common complex condition with an estimated heritability of 50%. The largest meta-analysis of genome-wide association studies (GWAS) for endometriosis to date, including 17K cases, identified 14 genome-wide significant loci (p<5x10-8) together explaining only 5% of the herit...

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Bibliographic Details
Main Authors: Rahmioglu, N, Cook, J, Becker, C, Morris, A, Zondervan, K
Format: Conference item
Published: SAGE Publications 2018
Description
Summary:Endometriosis is a common complex condition with an estimated heritability of 50%. The largest meta-analysis of genome-wide association studies (GWAS) for endometriosis to date, including 17K cases, identified 14 genome-wide significant loci (p<5x10-8) together explaining only 5% of the heritability. In ongoing analyses we are substantially increasing sample size by including novel datasets such as the UK Biobank. The UK Biobank involves medical records and self-reported questionnaire data on 500,000 volunteer participants, for which the full genotype data, imputed up to the HRC reference panel, has been recently released.