Johanneson Bo, Lima Guadalupe, von Salomé Jenny, Alarcón-Segovia Donato, Alarcón-Riquelme Marta E
Institute of Genetics and Pathology, Section for Medical Genetics, University of Uppsala, Uppsala, Sweden.
Am J Hum Genet. 2002 Nov;71(5):1060-71. doi: 10.1086/344289. Epub 2002 Oct 8.
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 Z>or=1.50, 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.
对来自欧洲（冰岛、瑞典、英国、挪威、意大利和希腊）以及近期有混血情况（墨西哥、哥伦比亚和美国）的87个系统性红斑狼疮（SLE）多病例家族进行基因分型，并对1号染色体上的62个微卫星标记进行分析。通过参数性两点连锁分析，确定了六个区域（1p36、1p21、1q23、1q25、1q31和1q43），其LOD值Z≥1.50，根据家族的起源人群（欧洲或混血美洲人群）不同，贡献也不同。所有这些区域之前都有过描述，因此在本次分析中得到了证实。1q31位点显示出显著的三点LOD值Z = 3.79，所有人群的家族均有贡献，涉及多个标记且在相同参数模型下。对CD45基因中一个已知突变的分析不支持该突变在疾病中所起的作用。我们得出结论，1q31位点包含一个主要的易感基因，对一般人群中的SLE很重要。
