A single-nucleotide polymorphism in the gene encoding lymphoid protein tyrosine phosphatase (PTPN22) confers susceptibility to generalised vitiligo
A single-nucleotide polymorphism in the gene encoding lymphoid protein tyrosine phosphatase (PTPN22) confers susceptibility to generalised vitiligo
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DOI：
10.1038/sj.gene.6364243
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发表时间：
2005-10-01
影响因子：
5
通讯作者：
Kemp, EH
中科院分区：
文献类型：
--
作者：
Cantón, I;Akhtar, S;Kemp, EH
白癜风是一种获得性低黑素性皮肤疾病，由皮肤表皮的功能性黑素细胞丧失引起，自身免疫被认为在其发病机制中起作用。最近，编码淋巴蛋白酪氨酸磷酸酶（LYP）的PTPN22基因的错义R620W多态性与自身免疫性疾病的易感性有关。本研究的目的是确定疾病相关的1858T等位基因是否也与广泛性（非节段性）白癜风相关，因此对165名英国广泛性白癜风患者和304名种族匹配的对照受试者进行了PTPN22 1858C/T等位基因的频率调查。结果表明，1858T等位基因在白癜风患者组中明显高于对照组。在330个白癜风等位基因中，48个（14.5%）编码Trp620变体，而608个对照等位基因中有52个（8.6%）编码Trp620变体（P=0.006；优势比1.82,95%置信区间1.17-2.82）。结果提示LYP错义R620W多态性可能对广泛性白癜风的发生发展有影响，并为自身免疫作为该病的病因因素提供了进一步的证据。
Vitiligo is an acquired hypomelanotic skin disorder resulting from the loss of functional melanocytes from the cutaneous epidermis and autoimmunity has been suggested to play a part in its pathogenesis. Recently, the missense R620W polymorphism in the PTPN22 gene, which encodes lymphoid protein tyrosine phosphatase (LYP), has been associated with susceptibility to autoimmune disorders. The objective of this study was to ascertain if the disease-associated 1858T allele was also associated with generalised (nonsegmental) vitiligo and so the frequencies of the PTPN22 1858C/T alleles were investigated in 165 English patients with generalised vitiligo and 304 ethnically matched control subjects. The results indicated that the 1858T allele was significantly over-represented in the vitiligo patient group compared with the control cohort. Of 330 vitiligo alleles, 48 (14.5%) encoded the Trp620 variant compared to 52 of 608 (8.6%) control alleles (P=0.006; odds ratio 1.82, 95% confidence interval 1.17-2.82). The results indicate that the LYP missense R620W polymorphism may have an influence on the development of generalised vitiligo and provide further evidence for autoimmunity as an aetiological factor with respect to this disease.