Department of Dermatology, Xijing Hospital, Fourth Military Medical University, Xi'an, Shaanxi, 710032, China.
Br J Dermatol. 2014 May;170(5):1092-9. doi: 10.1111/bjd.12845.
Recent evidence has revealed an elevation of total homocysteine (tHcy) in patients with vitiligo. Methylenetetrahydrofolate reductase (MTHFR) is one of the main enzymes regulating homocysteine (Hcy) metabolism. Thus, polymorphisms of MTHFR could potentially contribute to the development of vitiligo by affecting MTHFR activity and tHcy levels.
To evaluate the potential association between MTHFR polymorphisms and vitiligo susceptibility.
In total, 1000 patients with vitiligo and 1000 age- and sex-matched controls were enrolled in this hospital-based case-control study. Two single-nucleotide polymorphisms of the MTHFR gene (rs1801133 C>T and rs1801131 A>C) were selected and genotyped using polymerase chain reaction (PCR)-restriction fragment length polymorphism and allele-specific PCR, respectively. The MTHFR activity concentration and tHcy level in serum were measured by enzyme-linked immunosorbent assay.
We found that allele T of rs1801133 in the MTHFR gene was associated with a significantly reduced risk of vitiligo (adjusted odds ratio 0·58, 95% confidence interval 0·43-0·76, P < 0·001). In addition, the patients with vitiligo had a lower activity concentration of MTHFR and higher level of tHcy than the controls. Correlation between these markers and the risk of vitiligo was also observed. Furthermore, the individuals with a no-risk genotype (CT + TT) of rs1801133 and higher activity concentration of MTHFR or lower level of tHcy had a significantly decreased risk of vitiligo.
Our data suggest that MTHFR gene polymorphisms may play a vital role in genetic susceptibility to vitiligo.
最近的证据表明，白癜风患者的总同型半胱氨酸（tHcy）水平升高。亚甲基四氢叶酸还原酶（MTHFR）是调节同型半胱氨酸（Hcy）代谢的主要酶之一。因此，MTHFR 的多态性可能通过影响 MTHFR 活性和 tHcy 水平而导致白癜风的发生。
评估 MTHFR 多态性与白癜风易感性的潜在关联。
本研究采用病例对照研究，共纳入 1000 例白癜风患者和 1000 例年龄和性别匹配的对照者。选择 MTHFR 基因的两个单核苷酸多态性（rs1801133 C>T 和 rs1801131 A>C），并分别采用聚合酶链反应（PCR）-限制性片段长度多态性和等位基因特异性 PCR 进行基因分型。采用酶联免疫吸附试验测定血清中 MTHFR 活性浓度和 tHcy 水平。
我们发现 MTHFR 基因 rs1801133 的等位基因 T 与白癜风的发病风险显著降低相关（校正优势比 0.58，95%置信区间 0.43-0.76，P<0.001）。此外，白癜风患者的 MTHFR 活性浓度较低，tHcy 水平较高。这些标志物与白癜风发病风险之间也存在相关性。此外，rs1801133 无风险基因型（CT+TT）和较高的 MTHFR 活性浓度或较低的 tHcy 水平的个体，白癜风的发病风险显著降低。
我们的数据表明，MTHFR 基因多态性可能在白癜风的遗传易感性中发挥重要作用。
