Journal article

Functional evaluation of genetic variants associated with endometriosis near GREB1

Jenny N Fung, Sarah J Holdsworth-Carson, Yadav Sapkota, Zhen Zhen Zhao, Lincoln Jones, Jane E Girling, Premila Paiva, Martin Healey, Dale R Nyholt, Peter AW Rogers, Grant W Montgomery

HUMAN REPRODUCTION | OXFORD UNIV PRESS | Published : 2015

Abstract

STUDY QUESTION: Do DNA variants in the growth regulation by estrogen in breast cancer 1 (GREB1) region regulate endometrial GREB1 expression and increase the risk of developing endometriosis in women? SUMMARY ANSWER: We identified new single nucleotide polymorphisms (SNPs) with strong association with endometriosis at the GREB1 locus although we did not detect altered GREB1 expression in endometriosis patients with defined genotypes. WHAT IS ALREADY KNOWN: Genome-wide association studies have identified the GREB1 region on chromosome 2p25.1 for increasing endometriosis risk. The differential expression of GREB1 has also been reported by others in association with endometriosis disease phenot..

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