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

Objective: This study was conducted to understand the association between the AKT2 (AKT serine/threonine kinase 2) gene polymorphism (rs2304186) and PCOS.

Methods: 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.

Results: 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,  = .018; Age-adjusted: Over-dominant TT + GG vs. TG, OR = 1.543, 95%CI = 1.069-2.228,  = .021; Multi-adjusted: OR = 1.497, 95%CI = 1.024-2.188,  = .037). The risk effect was also detected in the non-obesity group (BMI <24.0 kg/m) for the Co-dominant model (TT vs. TG: OR = 1.355, 95%CI = 1.001-1.835,  = .050).

Conclusions: 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.