Whole-genome scan, in a complex disease, using 11,245 single-nucleotide polymorphisms: Comparison with microsatellites
Whole-genome scan, in a complex disease, using 11,245 single-nucleotide polymorphisms: Comparison with microsatellites
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DOI：
10.1086/422195
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发表时间：
2004-07-01
影响因子：
9.8
通讯作者：
Kennedy, GC
中科院分区：
文献类型：
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作者：
John, S;Shephard, N;Kennedy, GC
尽管单核苷酸多态性（SNPs）用于连锁分析的理论证据，但尚未公布复杂疾病的全基因组扫描以直接比较SNPs与微卫星。在这里，我们描述了一个全基因组筛选的157个家庭与多例类风湿性关节炎（RA），使用11,245全基因组SNP。将结果与同一队列中10 cM微卫星扫描的结果进行比较。SNP分析检测到HLA* DRB 1，主要的RA易感基因座（P = .00004），与微卫星扫描检测到的50 cM连锁间隔相比，连锁间隔为31 cM。此外，有4个位点的检测结果达到了名义显著水平（P <0.05）。
Despite the theoretical evidence of the utility of single-nucleotide polymorphisms ( SNPs) for linkage analysis, no whole-genome scans of a complex disease have yet been published to directly compare SNPs with microsatellites. Here, we describe a whole-genome screen of 157 families with multiple cases of rheumatoid arthritis ( RA), performed using 11,245 genomewide SNPs. The results were compared with those from a 10-cM microsatellite scan in the same cohort. The SNP analysis detected HLA*DRB1, the major RA susceptibility locus (P = .00004), with a linkage interval of 31 cM, compared with a 50-cM linkage interval detected by the microsatellite scan. In addition, four loci were detected at a nominal significance level (P