PITX3 gene polymorphism is associated with Parkinson's disease in Chinese population

Genetic variants of PITX3 gene have been reported to be associated with Parkinson's disease (PD) in several populations. We conducted a case-control study and genotyped the three SNPs of PITX3 gene: rs2281983, rs4919621 and rs3758549 in 512 mainland Chinese PD patients and 506 healthy controls. Our findings show that the PITX3 gene rs3758549 polymorphism is associated with PD (p=0.02). Moreover, the difference between late onset PD patients and healthy controls is stronger (p=0.007). There is no statistical difference in genotype or allele frequencies of rs2281983 or rs4919621 variant in PITX3 gene between sporadic PD (SPD) group and healthy control group in our study. To assess the possible role of the PITX3 gene rs3758549 polymorphism in PD, we conducted a meta-analysis on the topic. The results of meta-analysis further support that the PITX3 gene rs3758549 polymorphism is associated with PD: Z=3.09, p=0.002, OR=0.89. These findings suggest that the PITX3 gene rs3758549 polymorphism may increase the susceptibility of PD.