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

ABSTRACT: 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

SUBMITTER: Zhu SG 

PROVIDER: S-EPMC7645113 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature