应用连锁不平衡图谱的关联研究分析方法  

An analysis method to apply linkage disequih＇brimn maps to association study

作　　者：胡承[1] 贾伟平[1] 王从容[1] 张蓉[1] 马晓静[1] 方启晨[1] 项坤三[1] 

机构地区：[1]上海市糖尿病临床医学中心,上海市糖尿病研究所,上海交通大学附属第六人民医院内分泌代谢科,200233

出　　处：《中华医学遗传学杂志》2007年第5期495-498,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（30630061,30600361）;国家“973”重大基础研究基金（2006CB503901）;上海交通大学医学院博士创新基金（BXJ0732）

摘　　要：目的提出一种对高通量单核苷酸多态位点（single nucleotide polymorphism，SNP）关联研究的数据分析方法。方法在160名上海地区中国人中进行754个SNP的基因型检测，分别构建病例组和对照组的连锁不平衡（1inkage disequilibrium，LD）图谱，通过比较两组间染色体区域LD图谱随物理距离的变化趋势寻找与疾病相关的位点，并与传统LD分析以及SNP单点、单倍型分析进行比较。结果LD图谱的分析能判断出两组间LD存在差异的染色体区域，并且该区域SNP等位基因频率和单倍型频率在两组间分布存在统计学差异或差异趋势。结论可应用该方法对高通量SNP的关联研究进行数据分析。Objective To apply linkage disequilibrium （LD） maps to associations studies with high throughput single nucleotide polymorphisms （SNPs）. Melhods Seven hundred and fifty-four SNPs were genotyped in 160 Shanghai Chinese. LD maps were constructed in cases and controls separately. By comparing the decline of LD unit with distance between the two groups, disease susceptible loci were estimated. This method was compared with traditional analyses including LD analysis, single SNP and haplotype analyses. Results The analysis of LD maps could detect the chromosome regions with different LD patterns between the cases and controls. The alleles and/or haplotypes frequencies of SNPs within the regions had significantly different distributions or trends of significantly different distributions. Conclusion This method may be applied to analyze the data from association studies with high throughput SNPs aenotvoe information.

关 键 词：连锁不平衡 关联研究 单核甘酸多态性 

分 类 号：R686[医药卫生—骨科学]