Risk alleles for multiple sclerosis identified by a genomewide study
Risk alleles for multiple sclerosis identified by a genomewide study
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DOI：
10.1056/nejmoa073493
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发表时间：
2007-08-30
影响因子：
158.5
通讯作者：
Hauser, Stephen L.
中科院分区：
文献类型：
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作者：
Hafler, David A.;Compston, Alastair;Hauser, Stephen L.
背景：多发性硬化症具有临床显著的遗传成分。我们进行了一项全基因组关联研究，以确定与多发性硬化症风险相关的等位基因。研究方法：我们使用DNA微阵列技术鉴定了931个家庭三人组（包括受影响的孩子和父母双方）中常见的DNA序列变异，并对其进行了关联性测试。为了重复，我们对另外609个家庭三人组、2322例病例组和789例对照组进行了基因分型，并使用了来自两个外部对照数据集的基因分型数据。对来自12，360名受试者的数据进行了联合分析，以估计等位基因与多发性硬化症风险之间相关性的总体显著性和效应大小。结果如下：对931个三家系中的334，923个单核苷酸多态性（SNPs）进行传递不平衡检验，发现49个SNPs与多发性硬化相关（P
Background: Multiple sclerosis has a clinically significant heritable component. We conducted a genomewide association study to identify alleles associated with the risk of multiple sclerosis. Methods: We used DNA microarray technology to identify common DNA sequence variants in 931 family trios (consisting of an affected child and both parents) and tested them for association. For replication, we genotyped another 609 family trios, 2322 case subjects, and 789 control subjects and used genotyping data from two external control data sets. A joint analysis of data from 12,360 subjects was performed to estimate the overall significance and effect size of associations between alleles and the risk of multiple sclerosis. Results: A transmission disequilibrium test of 334,923 single-nucleotide polymorphisms (SNPs) in 931 family trios revealed 49 SNPs having an association with multiple sclerosis (P