A major susceptibility locus for systemic lupus erythemathosus maps to chromosome 1q31
A major susceptibility locus for systemic lupus erythemathosus maps to chromosome 1q31
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DOI：
10.1086/344289
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发表时间：
2002-11-01
影响因子：
9.8
通讯作者：
Alarcón-Riquelme, ME
中科院分区：
文献类型：
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作者：
Johanneson, B;Lima, G;Alarcón-Riquelme, ME
对来自欧洲（冰岛、瑞典、英格兰、挪威、意大利和希腊）和最近混合（墨西哥、哥伦比亚和美国）人群的87个系统性红斑狼疮（SLE）多病例家族进行基因分型，并分析1号染色体上的62个微卫星标记。通过参数两点连锁分析，确定了6个区域（1p36，1p21，1q23，1q25，1q31和1q43）的LOD得分大于或等于1.50，具有不同的贡献，这取决于家庭的起源人群（欧洲或混合美洲）。所有区域之前均已描述，因此在本分析中得到确认。在1q31的位点显示了一个显着的三点LOD得分Z=3.79，并从所有人群的家庭，与几个标记，并在相同的参数模型。对CD45基因中已知突变的分析不支持该突变在疾病中发挥的作用。我们的结论是在1q31位点包含一个主要的易感基因，重要的SLE在一般人群中。
A set of 87 multicase families with systemic lupus erythemathosus (SLE) from European (Iceland, Sweden, England, Norway, Italy, and Greece) and recently admixed (Mexico, Colombia, and the United States) populations were genotyped and analyzed for 62 microsatellite markers on chromosome 1. By parametric two-point linkage analysis, six regions (1p36, 1p21, 1q23, 1q25, 1q31, and 1q43) were identified that have LOD scores of Zgreater than or equal to1.50, with different contributions, depending on the population of origin of the families (European or admixed American). All of the regions have been described previously and have therefore been confirmed in this analysis. The locus at 1q31 showed a significant three-point LOD score of Z=3.79 and was contributed by families from all populations, with several markers and under the same parametric model. Analysis of a known mutation in the CD45 gene did not support the role that this mutation plays in disease. We conclude that the locus at 1q31 contains a major susceptibility gene, important to SLE in general populations.