A susceptibility locus for human systemic lupus erythematosus (hSLE1) on chromosome 2q
A susceptibility locus for human systemic lupus erythematosus (hSLE1) on chromosome 2q
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DOI：
10.1006/jaut.1999.0357
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发表时间：
2000-03-01
影响因子：
12.8
通讯作者：
Alarcón-Riquelme, ME
中科院分区：
文献类型：
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作者：
Lindqvist, AKB;Steinsson, K;Alarcón-Riquelme, ME
为了确定含有系统性红斑狼疮（SLE）易感基因的染色体区域，我们对来自冰岛（一种地理和遗传分离株）和瑞典的多个SLE患者家族进行了基因组扫描。一些染色体区域显示最大lod分数（Z），表明在冰岛和瑞典家族中可能与SLE相关。在冰岛家族中，5个区域的lod值大于2.0，其中3个（4p 15 -13，Z=3.20; 9 p22，Z=2.27; 19 q13，Z=2.06）分别与含有lmb 2、sle 2和sle 3基因座的鼠区域同源。第四个区域位于19 p13（D19 S247，Z=2.58），第五个区域位于2 q 37（D2 S125，Z=2.06）。在瑞典家系中，只有两个区域的lod值大于2.0：染色体2 q11（D2 S436，Z=2.13）和2 q37（D2 S125，Z=2.18）。这两个家庭集的组合给出了一个高度显着的lod得分在D2 S125的Z=4.24有利于连锁; 2 q37。该区域代表SLE的一个新位点。我们的研究结果强调了研究定义明确的人群对复杂疾病（如SLE）的遗传分析的重要性。(C)北京大学出版社.
To identify chromosomal regions containing susceptibility loci for systemic lupus erythematosus (SLE), we performed genome scans in families with multiple SLE patients from Iceland, a geographical and genetic isolate, and from Sweden. A number of chromosomal regions showed maximum lod scores (Z) indicating possible linkage to SLE in both the Icelandic and Swedish families. In the Icelandic families, five regions showed lod scores greater than 2.0, three of which (4p15-13, Z=3.20; 9p22, Z=2.27; 19q13, Z=2.06) are homologous to the murine regions containing the lmb2, sle2 and sle3 loci, respectively. The fourth region is located on 19p13 (D19S247, Z=2.58) and the fifth on 2q37 (D2S125, Z=2.06). Only two regions showed lod scores above 2.0 in the Swedish families: on chromosome 2q11 (D2S436, Z=2.13) and 2q37 (D2S125, Z=2.18). The combination of both family sets gave a highly significant lod score at D2S125 of Z=4.24 in favor of linkage for;2q37. This region represents a new locus for SLE. Our results underscore the importance of studying well-defined populations for genetic analysis of complex diseases such as SLE. (C) 2000 Academic Press.