Association of AKT1 gene polymorphisms with sporadic Parkinson’s disease in Chinese Han population

• AKT1 gene rs2498799, rs2494732 and rs1130214 polymorphisms were examined in Han Chinese cohort.
• The rs2498799 in AKT1 gene is associated with risk of PD patients in Han Chinese female population.
• No association was found between in rs2494732 and rs1130214 polymorphism and PD.

Genetic variants of AKT1 have been shown to influence brain function of Parkinson’s disease (PD) patients, and in this paper our aim is to investigate the association between the three single-nucleotide polymorphisms (rs2498799; rs2494732; rs1130214) and PD in Han Chinese. 413 Han Chinese PD patients and 450 healthy age and gender-matched controls were genotyped using the Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR–RFLP) method. Both the patient and control groups show similar genotype frequencies at the three loci: rs2498799, rs2494732 and rs1130214. We are able to identify a significant difference in the frequencies of genotype (p = 0.019) and G allele (OR = 0.764, 95% CI = 0.587–0.995, p = 0.045) both at rs2498799 between the patient and control groups. Furthermore, the association of subjects with GG genotypes versus those with GA + AA genotype remain significant after adjusting for age in the Han Chinese female cohort (OR = 0.538, 95%CI = 0.345-0.841, p = 0.006), which is especially evident in the late-onset cohort (OR = 0.521, 95%CI = 0.309-0.877, p = 0.012). In contrast, allele frequencies at rs2494732 and rs1130214 were similar between patients and controls in all subgroup analyses. These results suggest that polymorphism of AKT1 locus is associated with risk of PD and that the G allele at rs2498799 may decrease the risk of PD in the North-eastern part of Han Chinese female population.