Association between USP6NL polymorphisms and Parkinson’s disease in Northern Chinese Han population: a case-control study

The pathogenesis and progression of Parkinson’s disease (PD) are closely associated with impaired membrane trafficking. As a key regulator of membrane trafficking, this study examined the association between two USP6NL polymorphisms (rs61844597 and rs73569171) and PD risk in the Northern Chinese Han population. A total of 350 patients with PD and 450 healthy controls were recruited. Genotyping of the USP6NL loci rs61844597 and rs73569171 was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) with genomic DNA samples. The GA genotype at the rs61844597 locus was associated with an increased risk of PD ( p = 0.026, OR = 1.407). A similar association was observed under the dominant genetic model (GA + AA) (crude p = 0.035, crude OR = 1.377, adjusted p = 0.034, adjusted OR = 1.380). In subgroup analyses, rs61844597 showed a significant genotype distribution difference between male patients with PD and male healthy controls ( p = 0.036), accompanied by a higher A allele frequency in male patients (20.8% vs. 14.9%; p = 0.024, OR = 1.501). For rs73569171, the frequency of the minor T allele was significantly higher in the early-onset PD (EOPD) group than in the late-onset PD (LOPD) group ( p = 0.029, OR = 1.637). The A allele of rs61844597 in USP6NL is associated with the risk of sporadic PD in the Northern Chinese Han population, and this association appeared stronger in males. The T allele of rs73569171 may be related to genetic susceptibility to EOPD.