Recent progress in the genetics of generalized vitiligo.
Recent progress in the genetics of generalized vitiligo.
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DOI：
10.1016/j.jgg.2011.05.005
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发表时间：
2011-07-20
影响因子：
5.9
通讯作者：
Spritz, Richard A.
中科院分区：
文献类型：
--
作者：
Spritz, Richard A.
白癜风是一种获得性疾病，其主要特征是皮肤和上覆毛发的斑片状色素脱失。泛发性白癜风（GV）是该疾病的主要形式，由受影响区域的黑素细胞的自身免疫性损失引起。GV是一种“复杂性状”，以非孟德尔多基因、多因子方式遗传。GV在流行病学上与其他自身免疫性疾病相关，无论是在GV患者还是在他们的近亲中，这表明共享的基因是这组疾病易感性的基础。早期的候选基因关联研究取得了一些成功，如PTPN 22，但大多数这样的报告现在似乎是假阳性。随后的全基因组连锁研究确定了NLRP 1和XBP1，参与免疫调节的明显真实GV易感基因，最近的高加索人和中国人群GV全基因组关联研究（GWAS）已经产生了大量额外的验证GV易感基因。总之，这些基因突出了从免疫细胞到黑素细胞的生物系统和途径，并为治疗甚至预防遗传易感个体的GV和其他自身免疫性疾病提供了疾病发病机制和潜在新靶点的见解。
Vitiligo is an acquired disease characterized principally by patchy depigmentation of skin and overlying hair. Generalized vitiligo (GV), the predominant form of the disorder, results from autoimmune loss of melanocytes from affected regions. GV is a “complex trait”, inherited in a non-Mendelian polygenic, multifactorial manner. GV is epidemiologically associated with other autoimmune diseases, both in GV patients and in their close relatives, suggesting that shared genes underlie susceptibility to this group of diseases. Early candidate gene association studies yielded a few successes, such as PTPN22, but most such reports now appear to be false-positives. Subsequent genomewide linkage studies identified NLRP1 and XBP1, apparent true GV susceptibility genes involved in immune regulation, and recent genome-wide association studies (GWAS) of GV in Caucasian and Chinese populations have yielded a large number of additional validated GV susceptibility genes. Together, these genes highlight biological systems and pathways that reach from the immune cells to the melanocyte, and provide insights into both disease pathogenesis and potential new targets for both treatment and even prevention of GV and other autoimmune diseases in genetically susceptible individuals.
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影响因子：
5
作者：
Cantón, I;Akhtar, S;Kemp, EH
通讯作者：
Kemp, EH
影响因子：
10.3
作者：
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通讯作者：
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DOI：
10.1034/j.1600-0749.2003.00032.x
发表时间：
2003-06-01
期刊：
PIGMENT CELL RESEARCH
影响因子：
--
作者：
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通讯作者：
Spritz, RA
影响因子：
9.8
作者：
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通讯作者：
Spritz, RA
影响因子：
4.3
作者：
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通讯作者：
Spritz RA