Increasing evidence on the association of MTHFR gene polymorphism and serum homocysteine levels with autoimmune diseases such as vitiligo has made the MTHFR gene a very interesting candidate to be evaluated in different ethnicities and populations. We aimed to evaluate the levels of serum homocysteine and vitamin B12 and their associations with MTHFR C677T polymorphism in the Iranian population. This case–control study included 104 patients with vitiligo and 100 age‐ and sex‐matched healthy control subjects. Serum vitamin B12 and homocysteine levels were measured by a chemiluminescence assay. Polymerase chain reaction‐restriction fragment length polymorphism (PCR‐RFLP) analysis was used for genotyping the polymorphism. The mean serum homocysteine levels were significantly higher in cases than controls and associated with disease activity (p < .001). Furthermore, the homozygous MTHFR C677T variant genotype was associated with vitiligo development (adjusted OR: 3.52, 95% CI: 1.09–11.32, p = .02) and elevated homocysteine level (p < .001). There was no association between serum vitamin B12 levels and the MTHFR C677T genotype. The homozygous variant MTHFR C677T may be considered as a risk factor for both elevated homocysteine levels and the development of vitiligo in the Iranian population. Although these results are not conclusive, they could elucidate the contribution of genetic and immune‐mediated inflammatory factors to the pathogenesis of vitiligo.

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MTHFR C677T多态性与白斑同型半胱氨酸水平升高和疾病发展的关联

越来越多的关于 MTHFR 基因多态性和血清同型半胱氨酸水平与自身免疫性疾病（如白癜风）相关的证据使 MTHFR 基因成为在不同种族和人群中进行评估的非常有趣的候选基因。我们旨在评估伊朗人群中血清同型半胱氨酸和维生素 B12 的水平及其与 MTHFR C677T 多态性的关联。该病例对照研究包括 104 名白癜风患者和 100 名年龄和性别匹配的健康对照受试者。血清维生素 B12 和同型半胱氨酸水平通过化学发光测定法测量。聚合酶链反应限制性片段长度多态性（PCR-RFLP）分析用于基因分型多态性。病例的平均血清同型半胱氨酸水平显着高于对照组，并且与疾病活动相关（p < . 001）。此外，纯合子 MTHFR C677T 变异基因型与白斑病的发展有关（调整后的 OR：3.52，95% CI：1.09–11.32，p = .02）和同型半胱氨酸水平升高（p < .001）。血清维生素 B12 水平与 MTHFR C677T 基因型之间没有关联。纯合变体 MTHFR C677T 可能被认为是伊朗人群中同型半胱氨酸水平升高和白斑病发展的危险因素。虽然这些结果不是决定性的，但它们可以阐明遗传和免疫介导的炎症因子对白斑病发病机制的贡献。血清维生素 B12 水平与 MTHFR C677T 基因型之间没有关联。纯合变体 MTHFR C677T 可能被认为是伊朗人群中同型半胱氨酸水平升高和白斑病发展的危险因素。虽然这些结果不是决定性的，但它们可以阐明遗传和免疫介导的炎症因子对白斑病发病机制的贡献。血清维生素 B12 水平与 MTHFR C677T 基因型之间没有关联。纯合变体 MTHFR C677T 可能被认为是伊朗人群中同型半胱氨酸水平升高和白斑病发展的危险因素。虽然这些结果不是决定性的，但它们可以阐明遗传和免疫介导的炎症因子对白斑病发病机制的贡献。