Association between PARK16 gene polymorphisms and susceptibility of Parkinson's disease in a Chinese population

Recent genome-wide association studies identified 11 risk loci in different populations of familial and sporadic Parkinson's disease (PD) patients.Few loci have been verified in different European and Asian populations.We also validated 2 new single-nucleotide polymorphisms, rs947211 and rs823144, in PARK16 to explore their association with susceptibility to PD in the Xinjiang Uygur and Han populations.This case-control study included 312 PD patients (130 Uygur and 182 Han) and 359 control subjects (179 Uygur and 180 Han).Polymerase chain reaction-restriction fragment length polymorphism analysis and DNA sequencing were used to detect the rs947211 and rs823144 polymorphism in the PARK16 gene between the Xinjiang Uygur and Han populations.Frequencies of the A allele and AA genotype (42.1 and 15.7%, respectively) of rs947211 in PD patients were significantly lower than those in the control group (54.7 and 28.7%, respectively, P < 0.01).A allele and AA genotype frequencies of ©FUNPEC-RP www.funpecrp.com.brGenetics and Molecular Research 14 (2): 2978-2985 (2015) rs823144 were 56.8 and 31.8% in the PD patients group and were 54.1 and 29.3% in the control group; no significant difference was found (P > 0.05).In both the Han and Uygur groups, the rs947211 polymorphism was associated with PD.Haplotype analysis also indicated that the A-A and G-A haplotypes were associated with PD.We found that the rs947211 polymorphism may be a susceptibility marker for PD in the Chinese population; the A-A and G-A haplotypes may be a protective factor and a risk factor, respectively, for PD in the Chinese population.