Journal article

Identifying the Biological Basis of GWAS Hits for Endometriosis

Jenny N Fung, Peter AW Rogers, Grant W Montgomery

BIOLOGY OF REPRODUCTION | OXFORD UNIV PRESS INC | Published : 2015

Abstract

Endometriosis is a common estrogen-dependent gynecological disease influenced by multiple genetic and environmental factors. Genome-wide association studies (GWAS) have identified eight genomic regions with strong evidence for association with endometriosis risk and excellent replication in multiple studies. The results represent a significant breakthrough toward understanding endometriosis. However, the significance can be realized only when the associated DNA sequence variation is linked to the altered regulation and/or function of specific genes and pathways modifying endometriosis risk. This review sets out the multiple steps required to interpret the genetic association results, identif..

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