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

Abstract

ABSTRACT. 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 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.

PARK16 is associated with PD in the Malaysian population

“…Apart from Satake et al [] all other studies [Tan et al, ; Vilariño‐Güell et al, ; Chang et al, , ; Yan et al, ; Xia et al, ] including this study on PARK16 have shown a protective trend. The contrary findings between the Satake et al [] Asian studies may be due to ethnic‐specific effects of PARK16 , population stratifications that exist in the cohorts, environmental factors that modulate the risk of developing PD or statistical power limited by sample size.…”

Functional association between NUCKS1 gene and Parkinson disease: A potential susceptibility biomarker

“…RAB7L1-NUCKS1 is associated with late Alzheimer's disease [36]. The rs823114 variant of NUCKS1 also indicates decreased risk of susceptibility to PD in Han Chinese male and association of three candidate genetic variants in RAB7L1/NUCKS1, MCCC1 and STK39 with sporadic Parkinson's disease [37,38]. It is interesting that GA haplotype is reported as risk factor for PD and phenoscanner testify that rs823093 is associated with GA haplotype [39].…”

Advances in the Research of Risk Factors and Prodromal Biomarkers of Parkinson’s Disease

“…PARK12 has been shown to be a cause of X-linked inheritance PD . In addition, the rs947211 polymorphism in PARK16 may be considered a susceptibility marker of PD in the Chinese ethnicity . Although the genetic cause of PD accounts for a small percentage of PD cases, there is no doubt that with the development of new techniques and the identification and detection of the genetic causes of PD, genetic biomarkers of PD will provide an important tool for early PD diagnosis in clinical practice.…”