ABSTRACT. Endometriosis is a common, complicated, and highly heterogeneous endocrine disease. Many genetic factors could affect the development of endometriosis. We performed a case-control study to evaluate the association between polymorphisms in CYP19A1 rs2899470, GSTM1, GSTT1, and GSTP1 rs1695 and the development of endometriosis in a Chinese population. Between March 2014 and October 2015, 262 endometriosis patients and 275 control subjects were recruited from the Inner Mongolia Medical University. Genotyping was conducted using polymerase chain reaction-coupled with restriction fragment length polymorphism. Individuals carrying the TT genotype of CYP19A1 rs2899470 expressed a higher risk of endometriosis than those carrying the GG genotype, and the adjusted ORs (95%CI) was 2.33 (1.27-4.33). Moreover, those with the TG + TT genotype were correlated with an elevated risk of endometriosis, compared to those with the GG genotype (OR = 1.48, 95%CI = 1.03-2.13). However, GSTM1, GSTT1, and GSTP1 rs1695 polymorphisms did not affect the pathogenesis of endometriosis. In conclusion, our results suggested that CYP19A1 rs2899470 polymorphism is associated with risk for endometriosis in the Chinese population.
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