Biotechnology and Genetic Engineering Department, Jordan University of Science and Technology, Irbid, Jordan.
Arch Dermatol Res. 2010 Oct;302(8):631-4. doi: 10.1007/s00403-010-1064-1. Epub 2010 Jun 24.
Generalized vitiligo is an autoimmune disorder characterized by patchy loss of pigmentation due to autoimmune destruction of melanocytes in the involved areas. Vitiligo is a polygenic, multifactorial disorder involving multiple genes and unknown environmental triggers. Recently, genetic variation in NALP1 (also called NLRP1), encoding a key regulator of the innate immune response, has been associated with generalized vitiligo in Caucasians of northern European origin. Here, we have investigated whether NALP1 is also associated with generalized vitiligo in Jordanian Arab patients. We genotyped 8 NALP1 single-nucleotide polymorphisms (SNPs) in 26 generalized vitiligo patients and 61 matched controls unaffected by vitiligo or any other autoimmune disorder. We found that two SNPs in the NALP1 extended promoter region, rs1008588 and rs2670660 were significantly associated with generalized vitiligo in our cohort of Arab vitiligo patients, and several other SNPs in the NALP1 region were at the margin of significant association. These results indicate that NALP1 is associated with susceptibility to generalized vitiligo in Arabs, as in Caucasians. Whether the casual variants are the same of not is yet to be identified by functional analysis.
全身性白癜风是一种自身免疫性疾病,其特征是由于受累区域的黑素细胞自身免疫破坏导致色素脱失。白癜风是一种多基因、多因素的疾病,涉及多个基因和未知的环境触发因素。最近,NALP1(也称为 NLRP1)基因的遗传变异与北欧裔白种人全身性白癜风有关,该基因编码先天免疫反应的关键调节因子。在这里,我们研究了 NALP1 是否也与约旦阿拉伯裔全身性白癜风患者有关。我们对 26 名全身性白癜风患者和 61 名未受白癜风或任何其他自身免疫性疾病影响的匹配对照者的 8 个 NALP1 单核苷酸多态性(SNP)进行了基因分型。我们发现,NALP1 扩展启动子区域中的两个 SNP(rs1008588 和 rs2670660)与我们的阿拉伯裔白癜风患者队列中的全身性白癜风显著相关,NALP1 区域的其他几个 SNP 也处于显著相关的边缘。这些结果表明,NALP1 与阿拉伯人全身性白癜风的易感性有关,就像在白种人一样。是否是相同的致病变体还有待通过功能分析来确定。
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