Previous studies have indicated that genetic polymorphisms in the P2X7 receptors may influence the occurrence and development of sporadic Parkinson's diseases (PD). In our study, two DNA polymorphisms at P2X7 receptor gene: 1513A>C (rs3751143) and 1729T>A (rs1653624) were examined by PCR-RFLP analysis in 285 sporadic patients and 285 healthy controls in Han Chinese population. For 1513A>C polymorphism, there were significant differences in genotype distribution in PD group and late-onset PD (LOPD) group relative to the control groups respectively (P=0.015 and P=0.032, respectively), as well as between male PD and the controls subgroup (P=0.031). However, there were no significant differences in the genotype and allele frequencies of 1729T>A polymorphism between groups. Our study revealed that the P2X7 receptors 1513A>C polymorphism is a risk factor for sporadic PD, LOPD and male PD in Han Chinese population, while 1729T>A polymorphism is not significantly associated with Parkinson's disease.
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