Vitamin D Receptor Polymorphisms in a Spanish Cohort of Parkinson's Disease Patients.

IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Genetic testing and molecular biomarkers Pub Date : 2024-02-01 DOI:10.1089/gtmb.2023.0344
Saray Canales-Cortés, Mario Rodríguez-Arribas, María F Galindo, Joaquín Jordan, Ignacio Casado-Naranjo, José M Fuentes, Sokhna M S Yakhine-Diop
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Abstract

Background: Vitamin D receptor (VDR) is a nuclear hormone receptor widely expressed in the substantia nigra. Its association with an increased risk of Parkinson's disease (PD) is based on vitamin D deficiency and/or different polymorphisms in its gene receptor. This fact has been demonstrated by several case-control studies. Materials and Methods: Consequently, we investigated the association between VDR ApaI, BsmI, FokI, and TaqI gene polymorphisms and PD in a Spanish cohort that included 54 cases and 17 healthy controls. The detection of single nucleotide polymorphisms (SNPs) was performed using a polymerase chain reaction-restriction fragment length polymorphism. Results: Our data indicate that the SNPs were not associated with the age of onset of PD, nor with the occurrence of motor symptoms. However, only BsmI polymorphism was significantly associated with PD in this Spanish cohort. In fact, BsmI genotype was five times higher among PD patients than among controls, and the A allele was considered as a genetic risk for PD. Additionally, the combination of FokI and BsmI polymorphisms was significantly associated with PD and could represent a risk factor. Conclusion: We conclude that ApaI, TaqI, and FokI polymorphisms were not associated with PD, but BsmI could be a risk factor for PD in this randomized population.

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西班牙帕金森病患者队列中的维生素 D 受体多态性。
背景:维生素 D 受体(VDR)是一种广泛表达于黑质的核激素受体。维生素 D 受体与帕金森病(PD)患病风险增加之间的关系是基于维生素 D 缺乏和/或其基因受体的不同多态性。多项病例对照研究已证实了这一事实。材料与方法:因此,我们在一个西班牙队列中调查了 VDR ApaI、BsmI、FokI 和 TaqI 基因多态性与 PD 之间的关联,该队列包括 54 个病例和 17 个健康对照。单核苷酸多态性(SNPs)的检测采用聚合酶链式反应-限制性片段长度多态性进行。结果显示我们的数据表明,单核苷酸多态性与帕金森病的发病年龄无关,也与运动症状的出现无关。然而,在这个西班牙队列中,只有 BsmI 多态性与帕金森病有显著相关性。事实上,PD 患者的 BsmI 基因型是对照组的五倍,A 等位基因被认为是 PD 的遗传风险。此外,FokI 和 BsmI 多态性的组合与帕金森病有显著相关性,可能代表一种风险因素。结论我们得出的结论是,ApaI、TaqI 和 FokI 多态性与脊髓灰质炎无关,但在这一随机人群中,BsmI 可能是脊髓灰质炎的一个风险因素。
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来源期刊
CiteScore
2.50
自引率
7.10%
发文量
63
审稿时长
1 months
期刊介绍: Genetic Testing and Molecular Biomarkers is the leading peer-reviewed journal covering all aspects of human genetic testing including molecular biomarkers. The Journal provides a forum for the development of new technology; the application of testing to decision making in an increasingly varied set of clinical situations; ethical, legal, social, and economic aspects of genetic testing; and issues concerning effective genetic counseling. This is the definitive resource for researchers, clinicians, and scientists who develop, perform, and interpret genetic tests and their results. Genetic Testing and Molecular Biomarkers coverage includes: -Diagnosis across the life span- Risk assessment- Carrier detection in individuals, couples, and populations- Novel methods and new instrumentation for genetic testing- Results of molecular, biochemical, and cytogenetic testing- Genetic counseling
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