Disentangling Genetics of Endometriosis and Adenomyosis with a focus on Eastern Mediterranean Populations

Abstract:
Endometriosis is a chronic inflammatory disease characterised by the presence of endometrial-like tissue outside of the uterus. Similarly, adenomyosis is defined by the presence of this tissue within in myometrium of the uterus. Both are disease of the uterus, highly co-morbid but thought to have distinct disease mechanisms. The heritability of endometriosis is estimated to be ~50% with ~26% risk attributed to common genetic variants. 42 genome-wide significant loci have been identified in genome-wide association studies (GWAS); the majority being conducted among populations with European ancestry. To date no GWAS has been conducted for adenomyosis. I will present the results of the first adenomyosis GWAS meta-analysis conducted among white populations with European ancestry using UKBioBank, FinnGen and All of Us datasets and compare these to endometriosis GWAS meta-analysis results. Then I will present two studies from Eastern Mediterranean region, COHERE from North Cyprus and TROX from Turkiye, which have been initiated to expand the existing European based study cohorts to new ancestries.

Bio:
I completed my medical degree at the Heidelberg University in Germany and finished my training in Obstetrics and Gynaecology in Istanbul Türkiye. During my training I got interested in endometriosis and research in this field which led me to the EndoCare Group. I am a final year DPhil student, supervised by Nilufer Rahmioglu, Christian Becker and Krina Zondervan. I am also an active member of the Endometriosis and Adenomyosis Society Türkiye and the chair of the Early Career Board of the World Endometriosis Society.