强直性脊柱炎全基因组扫描易感基因研究的Meta分析

Ankylosing spondylitis susceptibility loci defined by genome-search Meta-analysis

目的通过强直性脊柱炎(AS)全基因组扫描研究,进一步确定AS遗传易感基因的染色体区域定位。方法2007年12月于山东省立医院图书馆检索分析已发表的有关AS和血清阴性脊柱关节病(SpA)的全基因扫描文献结果,采用全基因组扫描研究的Meta分析(GSMA)软件进行分析。结果4项AS全基因组扫描研究共纳入479个家系1151例AS患者,GSMA结果显示5个区域最可能含有AS的易感位点,分别是6p22.3-p21.1、6pter-p22.3、17pter-p12、2p12-q22.1和5q34-qter。5项AS和SpA全基因组扫描研究共纳入544个家系1331例AS和SpA患者,GSMA结果发现6p22.3-p21和16q23.1-qter2个区域最可能含有AS的易感位点。结论GSMA显示6p22.3-p21.1是AS显著连锁区域,6pter-p22.3、17pter-p12、2p12-q22.1、5q34-qter和16q23.1-qter是AS的连锁区域。

Objective To investigate whether there is any consistent evidence of linkage across multiple studies,and to identify novel AS susceptibility loci by using GSMA method. Methods Genome-search Meta-analysis （GSMA） method was applied to genome scans of AS and spondyloarthropathy（SpA） to assess evidence for linkage across studies. Results Four AS genome scans including 479 families with 1151 affected individuals were used. Suggesting these BINS most likely contain AS-linked loci;BINS 6p22. 3 -p21.1,6pter- p22. 3,17pter- p12,2p12 -q22. 1 and 5q34 -qter. Four AS genome scans and one SpA scan including 544 families with 1,331 affected individuals were used. The GSMA produced genomewide evidence for linkage on bin 6p22. 3 - p21 and 16q23. 1 - qter. Conclusion This GSMA added the evidence of the HLA loci as the greatest susceptibility factor to AS and shows evidences of chromosome 6,17p,2,5q and 16q as non-HLA susceptibility loci.