Birlea Stanca A, Fain Pamela R, Spritz Richard A
FACMG, Human Medical Genetics Program, University of Colorado at Denver and Health Sciences Center, PO Box 6511, Mail Stop 8300, Aurora, CO 80045, USA.
Arch Dermatol. 2008 Mar;144(3):310-6. doi: 10.1001/archderm.144.3.310.
To characterize the epidemiology and genetics of vitiligo and associated autoimmune diseases in a population isolate in Romania in which there is a high frequency of these diseases.
Prospective and retrospective ascertainment of all patients and extended families with these disorders in the study community.
A geographically isolated community in the mountains of northern Romania. Patients Fifty-one affected individuals and their close relatives from 35 nuclear families in an extended kindred that effectively constitutes the entire community population.
Demographic, phenotypic, and genetic aspects of vitiligo and other autoimmune diseases in the extended kindred.
The frequencies of vitiligo and several other autoimmune diseases, including autoimmune thyroid disease, adult-onset autoimmune diabetes mellitus, and rheumatoid arthritis, are greatly elevated. The age of vitiligo onset in this village is relatively delayed, suggesting that the causes of vitiligo in this community may be somewhat atypical. Genetic segregation analysis is most consistent with a single major locus recessive model, although incomplete penetrance and heritability suggest that other genes and nongenetic factors likely influence occurrence of disease in homozygotes.
The high frequency of vitiligo and other autoimmune diseases in this isolated inbred community and an unusual aspect of the vitiligo phenotype suggest that susceptibility to these disorders in this "special population" may be unusual, likely involving a major recessive gene. Whereas disease susceptibility seems to involve a major genetic component, actual onset of vitiligo in genetically susceptible individuals seems to require exposure to environmental triggers.
在罗马尼亚一个这些疾病高发的人群隔离区，对白癜风及相关自身免疫性疾病的流行病学和遗传学特征进行描述。
对研究社区中所有患有这些疾病的患者及其大家庭进行前瞻性和回顾性确诊。
罗马尼亚北部山区一个地理上隔离的社区。患者来自一个实际上构成整个社区人口的大家族中35个核心家庭的51名患病个体及其近亲。
大家族中白癜风及其他自身免疫性疾病的人口统计学、表型和遗传学方面。
白癜风以及其他几种自身免疫性疾病的发病率大幅升高，这些疾病包括自身免疫性甲状腺疾病、成人发病型自身免疫性糖尿病和类风湿性关节炎。这个村庄中白癜风发病年龄相对较晚，这表明该社区白癜风的病因可能有些不典型。遗传分离分析最符合单一主要位点隐性模型，尽管不完全外显率和遗传力表明其他基因和非遗传因素可能影响纯合子中疾病的发生。
在这个隔离的近亲社区中白癜风及其他自身免疫性疾病的高发病率以及白癜风表型的一个不寻常方面表明，这个“特殊人群”对这些疾病的易感性可能不同寻常，可能涉及一个主要的隐性基因。虽然疾病易感性似乎涉及一个主要的遗传成分，但在遗传易感个体中白癜风的实际发病似乎需要接触环境触发因素。
