The cis-Regulatory Element of SNCA Intron 4 Modulates Susceptibility to Parkinson’s Disease in Han Chinese

Objective: A novel functional cis-regulatory element (CRE) located at SNCA intron 4 has recently been identified in association with Parkinson’s disease (PD) risk in European descendants. We aimed to investigate whether this CRE is associated with PD in Han Chinese ethnicity.

Methods: A Chinese cohort comprising 513 sporadic PD patients and 517 controls was recruited. CRE variants were identified by sequencing and then analyzed.

Results: A total of nine variants were detected, namely eight single nucleotide variants and one new insertion variant. Two variants, rs17016188 and rs7684892, had minor allele frequency greater than 5%. A difference of rs17016188 was observed in males with the C allele serving as a recessive risk factor (p = 0.001, OR = 2.349, 95% CI = 1.414–3.901) following Bonferroni correction. Haplotypes of rs17016188 and rs7684892 showed distribution differences in the total and the male populations (p = 0.002 and 4.08 × 10−5, respectively). Among the haplotypes, rs17016188/T-rs7684892/G was associated with a reduced risk for PD (p = 4.8 × 10−4, OR = 0.731, 95% CI = 0.614–0.872).

Conclusions: Our results provide insight into how the SNCA intron 4 CRE harbors variants and its contribution to PD risk in Chinese ethnicity.