Endometriosis, regarded as a complex disease, is influenced by multiple genetic factors. Recent genome-wide association studies (GWASs) in endometriosis have identified several susceptibility loci in Caucasian and Japanese populations. However, the overlapped susceptible loci were few. This case-control study tried to identify risk loci-related genes for ovarian endometrioma in Chinese Han women from central China using DNA pooling-based GWAS. Genome DNA samples were extracted from 3038 participants in central China. Pooling-based genome-wide scan and individual genotyping were performed using Affymetrix Genome-Wide Human SNP Array 6.0 and IPLEX Gold system, which demonstrated 10 ovarian endometrioma-related novel risk loci. There were 3 of them with P value < 5 × 10-06, separately locating in intron of insulin-like growth factor 1 receptor, chromosome 7 open reading frame 50, and Meis homeobox 1. In conclusion, the pooling-based GWAS for ovarian endometrioma identified some novel single-nucleotide polymorphisms in Chinese Han women of central China. Further assessment in other samples will be crucial to confirm the susceptibility of these results and explore the mechanisms of the related genes in the pathogenesis of ovarian endometrioma.
Keywords: endometriosis; genome-wide association study; ovarian endometrioma; pooled DNA; single-nucleotide polymorphism.