Endometrial vezatin and its association with endometriosis risk

SJ Holdsworth-Carson; JN Fung; HTT Luong; Y Sapkota; LM Bowdler; L Wallace; WT Teh; JE Powell; JE Girling; M Healey; GW Montgomery; PAW Rogers

Journal article

Endometrial vezatin and its association with endometriosis risk

SJ Holdsworth-Carson, JN Fung, HTT Luong, Y Sapkota, LM Bowdler, L Wallace, WT Teh, JE Powell, JE Girling, M Healey, GW Montgomery, PAW Rogers

Human Reproduction | Published : 2016

DOI: 10.1093/humrep/dew047

Abstract

STUDY QUESTION: Do endometriosis risk-associated single nucleotide polymorphisms (SNPs) found at the 12q22 locus have effects on vezatin (VEZT) expression? SUMMARY ANSWER: The original genome-wide association study (GWAS) SNP (rs10859871), and other newly identified association signals, demonstrate strong evidence for cis-expression quantitative trait loci (eQTL) effects on VEZT expression. WHAT IS KNOWN ALREADY: GWAS have identified several disease-risk loci (SNPs) associated with endometriosis. The SNP rs10859871 is located within the VEZT gene. VEZT expression is altered in the endometrium of endometriosis patients and is an excellent candidate for having a causal role in endometriosis. M..

View full abstract

University of Melbourne Researchers

Sarah Holdsworth-Carson Author

Martin Healey Author

Peter Rogers Author

Wan Teh Author

Grants

Awarded by National Health and Medical Research Council

Funding Acknowledgements

Funding for this work was provided by National Health and Medical Research Council (NHMRC, Australia) Project Grants GNT1012245, GNT1026033, GNT1049472 and GNT1046880. G.W.M. is supported by the NHMRC Fellowship scheme (GNT1078399). S.J.H.-C. is supported by the J.N. Peters Bequest Fellowship (University of Melbourne).