Association between AKT2 gene polymorphism and polycystic ovary syndrome: a case-control study

This study was conducted to understand the association between the AKT2 (AKT serine/threonine kinase 2) gene polymorphism (rs2304186) and PCOS. In total, 1287 participants were included. Six genotype models (Dominant model: TT + TG vs. GG; Recessive model: TT vs. TG + GG; Over-dominant model: TT + GG vs. TG; Co-dominant model: TT vs. TG; Co-dominant TT vs. GG; Allele analysis: T vs. G) were applied in the analysis. According to the races and obesity, subgroup analyses were also performed. No significant association between rs2304186 and PCOS was identified in the whole sample or the Han groups, even after multi-adjustments. Only in the Zhuang groups was it suggested that rs2304186 might promote the risk of PCOS to some extent (Unadjusted: Over-dominant TT + GG vs. TG, OR = 1.522, 95%CI = 1.076–2.152, <i>p</i> = .018; Age-adjusted: Over-dominant TT + GG vs. TG, OR = 1.543, 95%CI = 1.069–2.228, <i>p</i> = .021; Multi-adjusted: OR = 1.497, 95%CI = 1.024–2.188, <i>p</i> = .037). The risk effect was also detected in the non-obesity group (BMI &lt;24.0 kg/m²) for the Co-dominant model (TT vs. TG: OR = 1.355, 95%CI = 1.001–1.835, <i>p</i> = .050). In summary, we first discovered that rs2304186 might significantly elevate the PCOS risk, especially in the Chinese Zhuang population and the non-obesity group. Further studies are needed to confirm these results.