AUTHOR=Zhu Shi-Guo , Lu Hui , Mao Miao , Li Zhao-Feng , Cui Lei , Ovlyakulov Begench , Zhang Xiong , Zhu Jian-Hong 

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

JOURNAL=Frontiers in Genetics

VOLUME=11

YEAR=2020

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2020.590365

DOI=10.3389/fgene.2020.590365

ISSN=1664-8021

ABSTRACT=<p><bold>Objective:</bold> A novel functional cis-regulatory element (CRE) located at <italic>SNCA</italic> 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.</p><p><bold>Methods:</bold> A Chinese cohort comprising 513 sporadic PD patients and 517 controls was recruited. CRE variants were identified by sequencing and then analyzed.</p><p><bold>Results:</bold> 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 (<italic>p</italic> = 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 (<italic>p</italic> = 0.002 and 4.08 × 10<sup>−5</sup>, respectively). Among the haplotypes, rs17016188/T-rs7684892/G was associated with a reduced risk for PD (<italic>p</italic> = 4.8 × 10<sup>−4</sup>, OR = 0.731, 95% CI = 0.614–0.872).</p><p><bold>Conclusions:</bold> Our results provide insight into how the <italic>SNCA</italic> intron 4 CRE harbors variants and its contribution to PD risk in Chinese ethnicity.</p>