Programa de Doctorado en Farmacología, Departamento de Fisiología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Mexico.
Instituto de Investigación en Ciencias Biomédicas, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, Mexico.
J Immunol Res. 2021 Dec 23;2021:7523997. doi: 10.1155/2021/7523997. eCollection 2021.
Multiple sclerosis (MS) is a chronic autoimmune inflammatory disease. Low vitamin D levels have been reported to be a risk factor for MS, and genetic variances could be implicated. The aim of this study was to evaluate the association of MS with rs10766197 polymorphism of gene and rs10877012 polymorphism of gene. The second aim was to analyse whether these polymorphisms are associated with the severity of the progression of MS. . In a case-control study, we included 116 MS patients and 226 controls, all of whom were Mexican Mestizo. MS was diagnosed by McDonald criteria (2017). A complete neurological evaluation was performed to evaluate the severity of disease progression. Serum 25-hydroxyvitamin D [25(OH) vitamin D] levels were measured by ELISA. Single nucleotide polymorphisms rs10766197 of gene and rs10877012 SNP of gene were genotyped by real-time PCR.
Serum 25(OH) vitamin D levels were lower in MS patients than in controls ( = 0.009). No differences were observed between serum 25(OH) vitamin D levels of MS patients with severe progression compared to low progression ( = 0.88). A higher frequency of the A allele of rs10766197 was observed between MS patients and controls ( = 0.05). No differences were observed in the frequency of T allele of rs10877012 ( = 0.65). In subanalysis, patients with GA + AA genotypes of rs10766197 had an increased risk of MS compared to controls ( = 0.03). No increased risk was observed in GT + TT genotypes of rs10877012 ( = 0.63). No differences were observed in allele frequencies of either polymorphism between patients with severe vs. low disease progression.
Lower serum 25(OH) vitamin D levels were observed in MS patients than in controls, although these levels were not associated with disease progression. Carriers of GA + AA genotypes of rs10766197 had an increased risk of MS. None of these polymorphisms was associated with severe progression of MS.
多发性硬化症（MS）是一种慢性自身免疫性炎症性疾病。据报道，维生素 D 水平低是 MS 的一个危险因素，而遗传变异可能与之相关。本研究旨在评估 基因的 rs10766197 多态性和 基因的 rs10877012 多态性与 MS 的关联。第二个目的是分析这些多态性是否与 MS 进展的严重程度相关。 在病例对照研究中，我们纳入了 116 名 MS 患者和 226 名对照者，均为墨西哥梅斯蒂索人。MS 按照麦克唐纳标准（2017 年）进行诊断。进行全面的神经学评估以评估疾病进展的严重程度。采用 ELISA 法检测血清 25-羟维生素 D [25（OH）维生素 D] 水平。采用实时 PCR 检测 基因的 rs10766197 单核苷酸多态性和 基因的 rs10877012 SNP。
MS 患者的血清 25（OH）维生素 D 水平低于对照组（=0.009）。严重进展的 MS 患者与低进展的 MS 患者的血清 25（OH）维生素 D 水平无差异（=0.88）。MS 患者与对照组相比， 基因的 rs10766197 的 A 等位基因频率较高（=0.05）。 基因的 rs10877012 的 T 等位基因频率无差异（=0.65）。在亚分析中，与对照组相比， 基因的 rs10766197 的 GA + AA 基因型的 MS 患者发生 MS 的风险增加（=0.03）。 基因的 rs10877012 的 GT + TT 基因型的 MS 患者发生 MS 的风险未增加（=0.63）。严重进展与低进展的 MS 患者之间，两种多态性的等位基因频率均无差异。
与对照组相比，MS 患者的血清 25（OH）维生素 D 水平较低，尽管这些水平与疾病进展无关。 基因的 rs10766197 的 GA + AA 基因型携带者 MS 发病风险增加。这些多态性均与 MS 严重进展无关。
