Meta-analysis of genome-wide linkage studies of systemic lupus erythematosus
Meta-analysis of genome-wide linkage studies of systemic lupus erythematosus
复制标题
DOI：
10.1038/sj.gene.6364338
复制
发表时间：
2006-10-01
影响因子：
5
通讯作者：
Criswell, L. A.
中科院分区：
文献类型：
--
作者：
Forabosco, P.;Gorman, J. D.;Criswell, L. A.
遗传因素对系统性红斑狼疮(SLE)的发展有很好的作用。几个全基因组连锁扫描已经确定了一些可能的SLE易感基因座，其中一些已经在独立的样本中复制。这项研究旨在通过应用基因组扫描荟萃分析(GSMA)方法来确定显示出最一致的连锁证据的区域。该研究在6p21.1-q15和20p11-q13.13上发现了两个全基因组建议区域(P值分别为0.0056和0.0044)，并在16p13-q12.2上发现了一个P值为0.01的区域。6号染色体上的区域包含人类白细胞抗原簇，16号和20号染色体区域已经在几个队列中复制。还强调了已确定的基因组区域的潜在重要性。这些结果，结合特定区域密集单核苷酸多态性分型或未来全基因组关联研究产生的数据，将有助于指导努力确定导致这种复杂遗传病的实际易感基因变异。
A genetic contribution to the development of systemic lupus erythematosus (SLE) is well established. Several genome-wide linkage scans have identified a number of putative susceptibility loci for SLE, some of which have been replicated in independent samples. This study aimed to identify the regions showing the most consistent evidence for linkage by applying the genome scan meta-analysis (GSMA) method. The study identified two genome-wide suggestive regions on 6p21.1 - q15 and 20p11 - q13.13 (P-value = 0.0056 and P-value = 0.0044, respectively) and a region with P-value < 0.01 on 16p13 - q12.2. The region on chromosome 6 contains the human leukocyte antigen cluster, and the chromosome 16 and 20 regions have been replicated in several cohorts. The potential importance of the identified genomic regions are also highlighted. These results, in conjunction with data emerging from dense single nucleotide polymorphism typing of specific regions or future genome-wide association studies will help guide efforts to identify the actual predisposing genetic variation contributing to this complex genetic disease.