Epidemiology of vitiligo and associated autoimmune diseases in caucasian probands and their families
Epidemiology of vitiligo and associated autoimmune diseases in caucasian probands and their families
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DOI：
10.1034/j.1600-0749.2003.00032.x
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发表时间：
2003-06-01
期刊：
影响因子：
--
通讯作者：
Spritz, RA
中科院分区：
文献类型：
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作者：
Alkhateeb, A;Fain, PR;Spritz, RA
全身性白癜风是一种自身免疫性疾病，其特征是皮肤和上覆毛发出现白色斑块，这是黑色素细胞从相关区域丢失的结果。白癜风是最常见的色素沉着疾病，在各种人群中发病率为0.1-2.0%。家族聚类病例并不罕见，以非孟德尔模式提示多因子，多基因遗传。我们调查了来自北美和英国的2624名白癜风先证者的临床特征、家族参与以及与其他自身免疫性疾病的关联，这是迄今为止规模最大的此类调查。超过83%的先证者为白种人，白癜风在男性和女性中出现的频率大致相等。先证者兄弟姐妹患白癜风的频率为6.1%，约为人群发病率的18倍，提示白癜风发病的主要遗传因素。然而，在同卵双胞胎中，白癜风的一致性仅为23%，表明非遗传成分也起着重要作用。发病较早的先证者往往有更多的亲属患白癜风，这表明早发家族中有更大的遗传成分。在白癜风先证者及其一级亲属中，六种自身免疫性疾病的频率显著升高：白癜风本身、自身免疫性甲状腺疾病（特别是甲状腺功能减退）、恶性贫血、艾迪生病、系统性红斑狼疮，可能还有炎症性肠病。这些关联表明白癜风与这些其他自身免疫性疾病具有共同的遗传病因学联系。这些结果表明，对全身性白癜风和相关自身免疫性疾病家族的基因组分析对于确定自身免疫的遗传易感性机制将是重要的。
Generalized vitiligo is an autoimmune disorder characterized by acquired white patches of skin and overlying hair, the result of loss of melanocytes from involved areas. The most common disorder of pigmentation, vitiligo occurs with a frequency of 0.1-2.0% in various populations. Family clustering of cases is not uncommon, in a non-Mendelian pattern suggestive of multifactorial, polygenic inheritance. We surveyed 2624 vitiligo probands from North America and the UK regarding clinical characteristics, familial involvement, and association with other autoimmune disorders, the largest such survey ever performed. More than 83% of probands were Caucasians, and the frequency of vitiligo appeared approximately equal in males and females. The frequency of vitiligo in probands' siblings was 6.1%, about 18 times the population frequency, suggesting a major genetic component in disease pathogenesis. Nevertheless, the concordance of vitiligo in monozygotic twins was only 23%, indicating that a non-genetic component also plays an important role. Probands with earlier disease onset tended to have more relatives affected with vitiligo, suggesting a greater genetic component in early onset families. The frequencies of six autoimmune disorders were significantly elevated in vitiligo probands and their first-degree relatives: vitiligo itself, autoimmune thyroid disease (particularly hypothyroidism), pernicious anaemia, Addison's disease, systemic lupus erythematosus, and probably inflammatory bowel disease. These associations indicate that vitiligo shares common genetic aetiologic links with these other autoimmune disorders. These results suggest that genomic analysis of families with generalized vitiligo and this specific constellation of associated autoimmune disorders will be important to identify the mechanisms of genetic susceptibility to autoimmunity.