Department of Neurology, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.
Department of Neurology, The Second Affiliated Hospital of Xinjiang Medical University, Urumqi, China.
J Gene Med. 2021 Mar;23(3):e3319. doi: 10.1002/jgm.3319. Epub 2021 Feb 9.
Parkinson's disease (PD) is the second most common neurodegenerative disease worldwide. Genetic factors play important roles in PD risk. rs653765 and rs514049 of ADAM10 were reported to be associated with Alzheimer's disease (AD) in Caucasian population; however, the association of the two variants with PD in Chinese Han population remains unknown. The present investigation aimed to explore the possible association of ADAM10 variants with PD in Chinese Han population.
We enrolled 565 PD patients and 518 healthy controls to conduct a case-control study. DNA samples were extracted from peripheral blood leukocytes, and the genotypes were determined by utilization of MassARRAY platform. Plasma levels were measured by enzyme-linked immunosorbent assay (ELISA).
We found CC genotype of rs514049 was associated with an increased risk of PD (OR (95% CI) = 3.776 (1.127-11.217), p = 0.018). The C allele frequency of rs514049 was significantly higher in PD group (OR (95% CI) = 1.328 (1.031-1.709), p = 0.028), especially in male subgroup (OR (95% CI) = 1.484 (1.053-2.092), p = 0.024). However, there was no significant difference in the genotype or allele frequencies for rs653765 within the groups. Plasma levels were significantly decreased in PD patients compared with controls (p < 0.001).
Our data suggested that C allele of rs514049 in ADAM10 may increase the risk of PD in Chinese Han population, especially in males. The decreased plasma levels are probably involved in PD development.
帕金森病（PD）是全球第二常见的神经退行性疾病。遗传因素在 PD 风险中起重要作用。ADAM10 的 rs653765 和 rs514049 被报道与白种人人群中的阿尔茨海默病（AD）相关；然而，这两个变体与中国汉族人群 PD 的关联尚不清楚。本研究旨在探讨 ADAM10 变体与中国汉族人群 PD 的可能关联。
我们纳入了 565 例 PD 患者和 518 例健康对照进行病例对照研究。从外周血白细胞中提取 DNA 样本，并利用 MassARRAY 平台确定基因型。通过酶联免疫吸附测定（ELISA）测量血浆水平。
我们发现 rs514049 的 CC 基因型与 PD 风险增加相关（OR（95%CI）=3.776（1.127-11.217），p=0.018）。rs514049 的 C 等位基因频率在 PD 组中显著升高（OR（95%CI）=1.328（1.031-1.709），p=0.028），尤其是在男性亚组中（OR（95%CI）=1.484（1.053-2.092），p=0.024）。然而，rs653765 的基因型或等位基因频率在各组之间没有显著差异。与对照组相比，PD 患者的血浆水平显著降低（p<0.001）。
我们的数据表明，ADAM10 中的 rs514049 的 C 等位基因可能会增加中国汉族人群患 PD 的风险，尤其是男性。血浆水平的降低可能与 PD 的发生有关。
