CYP19 gene rs2414096 variant and differential genetic risk of polycystic ovary syndrome: a systematic review and meta-analysis

Previously, many studies investigated the association between CYP19 rs2414096(G &gt; A) and susceptibility to develop PCOS. However, results had been inconsistent. Therefore, our systematic review and meta-analysis aimed to identify the association between CYP19 rs2414096 and PCOS risk. <i>Methods:</i> A systematic literature search was done from database PubMed, Google Scholar, Science Direct, and Cochrane Library up to July 15 2020 and statistical analysis was performed by RevMan5.3. <i>Results:</i> A total of seven studies comprised of 1414 PCOS cases and 1276 controls were included in the current meta-analysis. The pooled analysis showed that overall, there is a significant association between CYP19 rs2414096(G &gt; A) and risk of PCOS (OR = 0.74, 95% CI= 0.62–0.88, <i>p</i> = .0008). In dominant model, GG + AG vs GG and recessive genetic model AA vs AG + GG found a significant association (OR = 1.60,95% CI = 1.10–2.31, <i>p</i> = .01; OR = 0.65,95% CI = 0.45–0.93, <i>p</i> = .02) respectively which indicates that GG phenotype might be risk factor for PCOS development. In stratified subgroup analysis, there was significant association between CYP19 rs2414096 polymorphism and PCOS risk for non-Indian population only while no association was found with Indian population. <i>Conclusion:</i> Present meta-analysis studies indicate that CYP19 rs2414096 is associated with PCOS risk and important in pathogenesis of PCOS for many populations but for Indian population more studies are required as Indian population comprises of various subpopulations genetically isolated since long.