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维生素 D 受体基因多态性及其与中国汉族人群帕金森病的关联。

Vitamin D receptor gene polymorphism and its association with Parkinson's disease in Chinese Han population.

机构信息

Department of Neurology, Affiliated Hospital of Medical College, Qingdao University, Qingdao, China.

出版信息

Neurosci Lett. 2012 Sep 6;525(1):29-33. doi: 10.1016/j.neulet.2012.07.033. Epub 2012 Jul 26.

Abstract

Vitamin D plays an important role in neurodegenerative disorders as a crucial neuro-immunomodulator, and accumulating data have provided evidence for that vitamin D receptor (VDR) gene is a candidate gene for susceptibility to Parkinson's disease (PD). In this study, we performed a case-control study to demonstrate whether the risk for the development of onset of sporadic PD might be influenced by VDR gene polymorphisms in a Chinese cohort. Two hundred and sixty PD patients and 282 matched-healthy controls were genotyped for two representative single nucleotide polymorphisms (SNPs) in VDR gene (FokI C/T and BsmI G/A) by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis in. Results from our study revealed that FokI C allele carriers were likely to associate with an increased risk of PD (P=0.004) as well as early-onset PD (EOPD) (P=0.010). Moreover, the frequency of FokI C allele was significantly increased in PD group and late-onset PD (LOPD) group relative to the control groups respectively (P=0.023 and P=0.033, respectively). For BsmI polymorphisms, no significant difference in genotype or allele distribution was found between PD patients and the controls, as well as gender- and age-related differences between PD patients and the controls subgroup. This study demonstrated a possible association between the VDR FokI T/C polymorphism and PD, indicating that VDR polymorphisms may well change genetic susceptibility to sporadic PD in a Han Chinese population.

摘要

维生素 D 作为一种重要的神经免疫调节剂,在神经退行性疾病中发挥着重要作用,越来越多的证据表明维生素 D 受体 (VDR) 基因是帕金森病 (PD) 易感性的候选基因。在这项研究中,我们进行了一项病例对照研究,以证明 VDR 基因多态性是否会影响中国人群散发性 PD 的发病风险。通过聚合酶链反应和限制性片段长度多态性 (PCR-RFLP) 分析,对 260 例 PD 患者和 282 例匹配的健康对照者的 VDR 基因 (FokI C/T 和 BsmI G/A) 中的两个代表性单核苷酸多态性 (SNP) 进行了基因分型。我们的研究结果表明,FokI C 等位基因携带者可能与 PD(P=0.004)以及早发性 PD(EOPD)(P=0.010)的风险增加相关。此外,FokI C 等位基因的频率在 PD 组和晚发性 PD(LOPD)组中明显高于对照组(分别为 P=0.023 和 P=0.033)。对于 BsmI 多态性,PD 患者与对照组之间的基因型或等位基因分布没有显著差异,PD 患者与对照组亚组之间的性别和年龄也没有差异。这项研究表明 VDR FokI T/C 多态性与 PD 之间可能存在关联,表明 VDR 多态性可能会改变汉族人群散发性 PD 的遗传易感性。

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