生命科学研究2002，Vol.6Issue(1)：1-19,19.
一种有效的复杂疾病基因定位的检测法
A Powerful Linkage Disequilibrium Test to Map Loci Underlying Complex Diseases
摘要
Abstract
Linkage disequilibrium (LD) has been employed to help in the identification of genes underlying some complex diseases. Various LD mapping methods have been under extensive development recently. However,except for the transmission disequilibrium test (TDT),most LD mapping methods explicitly/implicitly assume absence of population admixture. Population admixture may seriously elevate type I error rate for identification of disease genes,rendering the results not robust. Utilizing LD,we develop an approach to test for linkage (in the presence of LD,I.e.,association) and association (in the presence of linkage) between marker and disease susceptibility loci (DSL). Our analyses are performed in unrelated samples whose parental genotype information is known and at least one parent is a heterozygote.Our approach can employ both cases and controls. Random samples are grouped according to the parental genotypes. Data from different groups can be analyzed individually or combined for analyses with higher population admixture on our LD mapping approach. Our analytical results(validated by simulations) and simulation results show that our approach is immune from the problem of population admixture and tests for both linkage and/or association between marker and DSL,similar to the TDT. However, compared with the TDT, our approach can efficiently use data from controls and is generally more powerful,particularly when the locus under test is a DSL. When the locus unde test is not a DSL,the TDT and our approaches may complement each other to ensure tests of higher power to detect a linked DSL,as their relative power varies in different situations.关键词
连锁不平衡(LD)/疾病基因定位/人群混合/疾病敏感位点(DSL)Key words
linkage disequilibrium/mapping of disease gene/population admixture/disease sensitive loci分类
生物科学引用本文复制引用
邓红文,陈伟民,罗伯特·艾瑞克..一种有效的复杂疾病基因定位的检测法[J].生命科学研究,2002,6(1):1-19,19.基金项目
美国国家卫生研究院项目(R01 GM60402-01A1, K01 AR02170-01, R01 AR45349, P01DC01813-07) （R01 GM60402-01A1, K01 AR02170-01, R01 AR45349, P01DC01813-07）
美国能源部基金资助项目(DE-FG03-00ER63000/A00) （DE-FG03-00ER63000/A00）
国家杰出青年科学基金资助项目(30025025) （30025025）
国家自然科学基金委面上项目基金资助项目(30170504) （30170504）
湖南省特聘教授启动基金资助项目(25000 （）
