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白癜风的遗传流行病学:多位点隐性遗传的交叉验证

Genetic epidemiology of vitiligo: multilocus recessivity cross-validated.

作者信息

Nath S K, Majumder P P, Nordlund J J

机构信息

Anthropometry and Human Genetics Unit, Indian Statistical Institute, Calcutta.

出版信息

Am J Hum Genet. 1994 Nov;55(5):981-90.

Abstract

Vitiligo is a dermatological disorder characterized by hypopigmentary patches that tend to become progressive over time. There are reports of extensive familial aggregation. A genetic model for this disorder was earlier proposed by us. This model postulates that recessive alleles at multiple unlinked autosomal loci interact epistatically in the pathogenesis of vitiligo. The present family study was primarily undertaken to cross-validate the proposed genetic model. Data on 194 families from the United States were collected. Each family was ascertained through an affected proband. Analyses of these data reveal that approximately 20% of probands have at least one first-degree relative afflicted with vitiligo. All types of first-degree relatives of probands show a significant risk of developing vitiligo. Results of segregation and robustness analyses reveal that the genetic model postulated by us previously is the most parsimonious model for the present family data set.

摘要

白癜风是一种皮肤病,其特征为色素减退斑,且往往会随着时间的推移而逐渐发展。有报告称其存在广泛的家族聚集现象。我们之前曾提出过该疾病的遗传模型。此模型假定多个不连锁的常染色体位点上的隐性等位基因在白癜风的发病机制中存在上位性相互作用。本次家族研究主要是为了对所提出的遗传模型进行交叉验证。收集了来自美国的194个家庭的数据。每个家庭都是通过一名患病先证者确定的。对这些数据的分析表明,约20%的先证者至少有一位患白癜风的一级亲属。先证者的所有类型一级亲属患白癜风的风险均显著。分离分析和稳健性分析结果表明,我们之前假定的遗传模型是适用于当前家族数据集的最简约模型。

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