Evidence for a susceptibility gene, SLEV1, on chromosome 17p13 in families with vitiligo-related systemic lupus erythematosus
Evidence for a susceptibility gene, SLEV1, on chromosome 17p13 in families with vitiligo-related systemic lupus erythematosus
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DOI：
10.1086/324470
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发表时间：
2001-12-01
影响因子：
9.8
通讯作者：
Harley, JB
中科院分区：
文献类型：
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作者：
Nath, SK;Kelly, JA;Harley, JB
系统性红斑狼疮 (SLE) 和白癜风都是自身免疫性疾病，有强有力的证据表明复杂的遗传因素对其病因有贡献，但迄今为止，利用遗传连锁寻找任一表型的易感基因的努力取得的成功有限。由于自身免疫性疾病被认为至少有一些共同的遗传起源，并且由于我们收集的 SLE 多重欧美谱系中只有一小部分（92 个中的 16 个）有一个或多个患有白癜风的受影响成员，我们假设这些谱系在对 SLE 和白癜风都很重要的位点上可能具有更高的遗传同质性，因此具有更高的连锁检测能力。因此，我们评估了这 16 个欧美系谱中平均标记密度类似于 11 cM 的全基因组微卫星标记扫描数据，并在 17p13 处发现了显着连锁，其中最大多点参数 LOD 评分为 3.64 (P
Both systemic lupus erythematosus (SLE) and vitiligo are autoimmune disorders that have strong evidence of complex genetic contributions to their etiology, but, to date, efforts using genetic linkage to find the susceptibility genes for either phenotype have met with limited success. Since autoimmune diseases are thought to share at least some of their genetic origins, and since only a small minority (16 of 92) of the European-American pedigrees multiplex for SLE in our collection have one or more affected members with vitiligo, we hypothesized that these pedigrees might be more genetically homogeneous at loci important to both SLE and vitiligo and, hence, have increased power for detection of linkage. We therefore evaluated genomewide microsatellite-marker-scan data for markers at an average marker density of similar to 11 cM in these 16 European-American pedigrees and identified a significant linkage at 17p13, where the maximum multipoint parametric LOD score was 3.64 (P