Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000, Henan, China; The Academy of Medical Sciences of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000, Henan, China.
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000, Henan, China.
Neurosci Lett. 2020 Apr 23;725:134867. doi: 10.1016/j.neulet.2020.134867. Epub 2020 Mar 9.
Genetic factors play an important role in Parkinson's disease (PD) and vary from different races. A previous genome-wide association study (GWAS) identified 17 novel risk loci that were associated with PD in Caucasians. Several subsequent studies investigated the association between these loci and PD in Chinese populations. However, the results on the role of these variants for PD have been conflicting. To explore the relationship of 15 controversial loci with PD in the Chinese Han population, we performed a case-control study including 492 PD patients and 524 healthy controls. iMLDR technology was used to type 15 GWAS-linked loci of 1016 blood samples from all subjects. We found that rs34043159 (IL1R2) (dominant model after adjusted: p = 0.011, OR 95 % CI 0.577 (0.378-0.880)) and rs4073221 (SATB1) (allele model: p = 0.001, OR 95 % CI 0.542 (0.371-0.792); dominant model after adjusted: p = 0.049, OR 95 % CI 0.587 (0.345-0.998)) were associated with PD. After age onset and gender subgroup analysis, rs34043159 (IL1R2) (χ = 7.971, p = 0.019) and rs4073221 (SATB1) (χ = 12.673, p = 0.001) were associated with late-onset PD. rs34043159 (IL1R2) was associated with PD in females (χ = 7.227, p = 0.027) rather than males (χ = 1.100, p = 0.577). rs4073221 (SATB1) was associated with PD in both males (χ = 10.270, p = 0.005) and females (χ = 7.050, p = 0.022). Further studies are needed to explore the role of IL1R2 and SATB1 in the pathogenesis of PD.
遗传因素在帕金森病（PD）中起着重要作用，并且因不同种族而有所不同。先前的全基因组关联研究（GWAS）确定了 17 个与高加索人群 PD 相关的新风险位点。随后的几项研究调查了这些位点与中国人群 PD 之间的关联。然而，这些变体与 PD 关系的研究结果存在争议。为了探讨 15 个有争议的位点与中国汉族人群 PD 的关系，我们进行了一项病例对照研究，纳入了 492 名 PD 患者和 524 名健康对照。使用 iMLDR 技术对所有受试者的 1016 份血样进行了 15 个 GWAS 相关位点的分型。我们发现 rs34043159（IL1R2）（调整后的显性模型：p = 0.011，OR 95%CI 0.577（0.378-0.880））和 rs4073221（SATB1）（等位基因模型：p = 0.001，OR 95%CI 0.542（0.371-0.792）；调整后的显性模型：p = 0.049，OR 95%CI 0.587（0.345-0.998））与 PD 相关。在年龄发病和性别亚组分析后，rs34043159（IL1R2）（χ=7.971，p=0.019）和 rs4073221（SATB1）（χ=12.673，p=0.001）与晚发性 PD 相关。rs34043159（IL1R2）与女性 PD 相关（χ=7.227，p=0.027），而与男性 PD 无关（χ=1.100，p=0.577）。rs4073221（SATB1）与男性（χ=10.270，p=0.005）和女性 PD （χ=7.050，p=0.022）均相关。需要进一步的研究来探讨 IL1R2 和 SATB1 在 PD 发病机制中的作用。
