AUTHOR=Yang Wen-Yi , Jiang Si-Si , Pu Jia-Li , Jin Chong-Yao , Gao Ting , Zheng Ran , Tian Jun , Zhang Bao-Rong 

TITLE=Association Between Dystonia-Related Genetic Loci and Parkinson's Disease in Eastern China

JOURNAL=Frontiers in Neurology

VOLUME=12

YEAR=2022

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2021.711050

DOI=10.3389/fneur.2021.711050

ISSN=1664-2295

ABSTRACT=<sec><title>Background</title><p>Parkinson's disease (PD) and dystonia are closely related in terms of pathophysiology and clinical manifestations, but their common genetic characteristics remain unclear. Some genome-wide association studies (GWASs) and replication studies have revealed correlations between single nucleotide polymorphisms (SNPs) of the <italic>ARSG, BDNF, NALCN, OR4X2, KIAA1715, and OR4B1</italic> genes and dystonia. This study was conducted to assess the association between these genetic loci and PD in a population from Eastern China.</p></sec><sec><title>Methods</title><p>We genotyped the SNPs (rs11655081 of <italic>ARSG</italic>; rs6265 of <italic>BDNF</italic>; rs61973742, rs1338051, rs9518384, and rs9518385 of <italic>NALCN</italic>; rs67863238 of <italic>OR4X2</italic>; rs10930717 of <italic>KIAA1715</italic>; and rs35875350 of <italic>OR4B1</italic>) in a cohort of 474 patients with PD and 439 healthy controls from East China. To determine the genotypes of these SNPs, we used an Agena MassARRAY Typer 4.0. Odds ratios (<italic>OR</italic>s) and 95% <italic>CI</italic>s were computed to evaluate the correlations between these SNPs and the risk of PD.</p></sec><sec><title>Results</title><p>There were significant differences in the genotype distribution (<italic>OR</italic> = 0.649, 95% <italic>CI</italic> = 0.478–0.880) and minor allele frequency (MAF) (<italic>OR</italic> = 0.703, 95% <italic>CI</italic> = 0.533–0.929) of SNP rs61973742 (<italic>NALCN</italic>) between patients with PD and healthy controls. A significant difference was detected in the genotype distribution of rs11655081 (<italic>ARSG</italic>) (<italic>OR</italic> = 1.486, 95% <italic>CI</italic> = 1.080–2.045).</p></sec><sec><title>Conclusion</title><p>Single nucleotide polymorphisms rs11655081 (<italic>ARSG</italic>) and rs61973742 (<italic>NALCN</italic>) may be associated with PD. The C allele of rs11655081 may increase the risk of PD, whereas the G allele of rs61973742 may be a protective factor.</p></sec>