A genomewide screen for generalized vitiligo:: Confirmation of AIS1 on chromosome 1p31 and evidence for additional susceptibility loci
A genomewide screen for generalized vitiligo:: Confirmation of AIS1 on chromosome 1p31 and evidence for additional susceptibility loci
复制标题
DOI：
10.1086/375451
复制
发表时间：
2003-06-01
影响因子：
9.8
通讯作者：
Spritz, RA
中科院分区：
文献类型：
--
作者：
Fain, PR;Gowan, K;Spritz, RA
泛发性白癜风是一种常见的自身免疫性疾病，其特征是由于受累区域形成色素的黑素细胞丢失，导致皮肤和毛发上出现白色斑块。病例的家族聚集性并不少见，这种模式暗示了多因素、多基因遗传，白癜风和其他自身免疫性疾病之间有很强的相关性。为了定位对泛发性白癜风和其他自身免疫性疾病的易感性的遗传位点，我们对来自北美和英国的71个患有白癜风的白人多基因家系进行了全基因组连锁扫描。连锁分析采用多点非参数连锁分析。1个连锁信号AIS1位于1p31，符合全基因组高度显著连锁的标准(非参数LOD 5.56；P=0.000000282)，确立了其作为白癜风主要易感基因座的重要性。另外7个位于第1、7、8、11、19和22号染色体上的信号符合全基因组的“暗示连锁”标准，因此对后续研究具有特别重要的意义。
Generalized vitiligo is a common autoimmune disorder characterized by the development of white patches of skin and overlying hair due to loss of pigment-forming melanocytes from the involved areas. Family clustering of cases is not uncommon, in a pattern suggestive of multifactorial, polygenic inheritance, and there is strong association between vitiligo and other autoimmune diseases. To map genetic loci that confer susceptibility to generalized vitiligo and perhaps other autoimmune diseases, we performed a genomewide linkage scan in 71 white multiplex families with vitiligo from North America and the United Kingdom. Linkage was assessed by multipoint nonparametric linkage analyses. One linkage signal, AIS1, located at 1p31, met genomewide criteria for highly significant linkage (nonparametric LOD 5.56; P = .000000282), establishing its importance as a major vitiligo susceptibility locus. An additional seven signals, on chromosomes 1, 7, 8, 11, 19, and 22, met genomewide criteria for "suggestive linkage," and will thus be of particular importance for follow-up studies.