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
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..View full abstract
Awarded by NHMRC
Funding for this work was provided by NHMRC Project Grants APP1012245, APP1026033, APP1049472 and APP1046880. There are no competing interests.