撒丁岛多发性硬化症连锁不平衡的全基因组筛查。

A genome-wide screen for linkage disequilibrium in Sardinian multiple sclerosis.

作者信息

Coraddu Francesca, Lai Marina, Mancosu Cristina, Cocco Eleonora, Sawcer Stephen, Setakis Efrosini, Compston Alastair, Marrosu Maria Giovanna

机构信息

Neurology Unit, Addenbrooks Hospital, University of Cambridge, Hills Road, Cambridge CB2 2QQ, UK.

出版信息

J Neuroimmunol. 2003 Oct;143(1-2):120-3. doi: 10.1016/j.jneuroim.2003.08.025.

DOI:10.1016/j.jneuroim.2003.08.025

PMID:14575928

Abstract

Using indirect whole genome association screening, we have searched for multiple sclerosis susceptibility genes in the genetically isolated high risk Sardinian population. Two screens were performed; the first was based on 229 cases and 264 unrelated controls, and the second on 235 trio families. Each screen employed a dense set of microsatellite markers and DNA pooling. Data from both screens were available from 2764 markers. Nine markers showed nominally significant results in both screens independently. Five of these markers-D2S408 (2q36), D6S271 (6p21), D6S344 (6p25), D7S1818 (7p12) and D16S420 (16p12)-remained nominally significant in both studies after conservative refining analysis.

摘要

我们利用间接全基因组关联筛查，在遗传隔离的高风险撒丁岛人群中寻找多发性硬化症易感基因。进行了两次筛查；第一次基于229例患者和264名无关对照，第二次基于235个三联体家庭。每次筛查都使用了一组密集的微卫星标记和DNA池化技术。两次筛查的数据来自2764个标记。九个标记在两次筛查中均独立显示出名义上显著的结果。经过保守的精细分析后，其中五个标记——D2S408（2q36）、D6S271（6p21）、D6S344（6p25）、D7S1818（7p12）和D16S420（16p12）——在两项研究中仍保持名义上的显著性。