Association study between two novel single nucleotide polymorphisms and sporadic Parkinson's disease in Chinese Han population

Two novel single nucleotide polymorphisms (SNPs) (rs6812193 and rs11868035) were recently identified to be associated with Parkinson's disease (PD) in a Web Based Genome-Wide Association Study. Herein, we conducted a case–control study to evaluate the possible associations between these two SNPs and PD in Chinese Han population. All subjects (501 sporadic PD patients and 502 normal controls) were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis with these two SNPs. Chi-square test revealed no significant difference in either genotype frequencies or allele frequencies, even after being stratified by age. But we found that the genotype and allele frequency of rs6812193 shows difference between male patients and male controls (p = 0.031, OR = 0.584; p = 0.037, OR = 0.606) but none in the female. Our findings suggest that rs11868035 may have no association with PD in Chinese population and rs6812193 may have marginal association with PD in male Chinese population. However, due to the limited data in the present study, replication studies in larger sample and other populations are required.

► First case–control study evaluating association of two novel SNPs and PD in China.
► rs11868035 may have no association with PD in Chinese population.
► rs6812193 may have marginal association with PD in male Chinese population.
► May suggest male subjects are more susceptible to rs6812193 than female.