Biotechnology and Genetic Engineering Department, Jordan University of Science and Technology, Irbid, Jordan.
Mol Diagn Ther. 2010 Jun 1;14(3):179-84. doi: 10.1007/BF03256371.
Vitiligo is an autoimmune polygenic disorder, characterized by loss of pigmentation due to melanocyte destruction. Multiple genes and environmental triggers are thought to play a role in inducing vitiligo. These genes and environmental factors differ across different populations. In this study, we investigated vitiligo patients in Jordan for patient characteristics and analyzed the association of the 1858C/T (rs2476601, R620W) variant of the PTPN22 gene with vitiligo in our patients.
Fifty-five patients with generalized vitiligo and 85 matched normal control subjects who did not have vitiligo or any apparent autoimmune disorder were recruited and interviewed for clinical and demographic characteristics. DNA samples were obtained from patients and controls and genotyped by restriction fragment length polymorphism for the 1858C/T variant. Fifty-three percent of our patients (29 of 55 overall) were female, the average age at onset was 19.2 years, 84.3% of patients (43 of 51 reported) had changing size of depigmented patches, 3.8% (2 of 53 reported) had other autoimmune disease, and 19.2% (5 of 26 reported) had a family history of vitiligo.
The allelic frequency of 1858T (620W) was 1.9% in patients as opposed to 2.9% in controls (p = 0.5). No PTPN22 1858 TT homozygotes were observed among patients or controls; 3.8% of vitiligo patients were 1858 CT heterozygotes compared with 5.9% of controls (p = 0.7). Consequently, no significant association was observed between the 1858C/T functional variant and vitiligo patients.
Although the PTPN22 1858C/T variant has been reported to play a role in increasing the risk of vitiligo in Caucasian patients, it does not appear to play a similar role in the Jordanian population, though a larger cohort of patients might be needed to confirm such a conclusion.
白癜风是一种自身免疫性多基因疾病，其特征是由于黑色素细胞破坏导致色素丧失。多种基因和环境触发因素被认为在诱导白癜风中起作用。这些基因和环境因素在不同人群中有所不同。在这项研究中，我们调查了约旦的白癜风患者的患者特征，并分析了 PTPN22 基因的 1858C/T（rs2476601，R620W）变体与我们患者中白癜风的关联。
招募了 55 名患有泛发性白癜风的患者和 85 名匹配的无白癜风或任何明显自身免疫性疾病的正常对照者，并对其进行了临床和人口统计学特征的访谈。从患者和对照者中获得 DNA 样本，并通过限制性片段长度多态性对 1858C/T 变体进行基因分型。我们的患者中 53%（55 例总体中的 29 例）为女性，发病平均年龄为 19.2 岁，84.3%（51 例中有 43 例报告）的患者有色素脱失斑块大小变化，3.8%（53 例中有 2 例报告）有其他自身免疫性疾病，19.2%（26 例中有 5 例报告）有白癜风家族史。
患者中 1858T（620W）等位基因的频率为 1.9%，而对照者中为 2.9%（p=0.5）。在患者或对照者中均未观察到 PTPN22 1858 TT 纯合子；与对照组的 5.9%相比，3.8%的白癜风患者为 1858 CT 杂合子（p=0.7）。因此，1858C/T 功能性变体与白癜风患者之间未观察到显著关联。
尽管 PTPN22 1858C/T 变体已被报道在增加白人患者患白癜风的风险方面发挥作用，但它似乎在约旦人群中不起类似作用，尽管可能需要更大的患者队列来证实这一结论。
