ORIGINAL ARTICLE Reproductive genetics Association between endometriosis and the interleukin 1A (IL1A) locus

studyquestion: Are single-nucleotide polymorphisms (SNPs) at the interleukin 1A (IL1A) gene locus associatedwith endometriosis risk? summaryanswer: We found evidence for strong association between IL1A SNPs and endometriosis risk. what is known already: Genetic factors contribute substantially to the complex aetiology of endometriosis and the disease has an estimated heritability of51%.We, and others, have conducted genome-wide association (GWA) studies for endometriosis, which identified a total of nine independent risk loci. Recently, two small Japanese studies reported eight SNPs (rs6542095, rs11677416, rs3783550, rs3783525, rs3783553, rs2856836, rs1304037 and rs17561) at the IL1A gene locus as suggestively associatedwith endometriosis risk. There is also evidence of a link between inflammation and endometriosis.