case-control study;
low-frequency disease variant;
Z(2) statistic;
correction of significance level;
one-step stepwise mutation model;
recombination;
single nucleotide polymorphism;
D O I:
10.1007/s10038-003-0058-7
中图分类号:
Q3 [遗传学];
学科分类号:
071007 ;
090102 ;
摘要:
Linkage disequilibrium (LD) testing is often used in the search for disease genes. In this study, we developed a method for calculating the expected power of genome-wide LD testing by using microsatellite markers under the following assumptions: (1) microsatellite markers have unequally frequent alleles, (2) markers are equally spaced through the human genome, (3) the degree of LD between the disease variant and the marker decays gradually because of recombination and mutation. (4) the population frequency of the disease variant is low (e.g., 0.05),, (5) a single-marker test is performed in a case-control Study, and (6) the significance level is adjusted by the number of tests to avoid inflation of the type I error. Our calculations revealed a markedly higher power for microsatellite markers than for single nucleotide polymorphism (SNP) markers., even if more SNPs are analyzed. suggesting that the use of microsatellite markers is preferable to the use of SNPs for genome-wide screening under the above assumptions. This method will be helpful to researchers who design genome-wide LD testing with microsatellite markers.
机构:
Univ Tokyo, Dept Human Genet, Grad Sch Med, Bunkyo Ku, Tokyo 1130033, JapanUniv Tokyo, Dept Human Genet, Grad Sch Med, Bunkyo Ku, Tokyo 1130033, Japan
Ohashi, J
;
Tokunaga, K
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h-index: 0
机构:
Univ Tokyo, Dept Human Genet, Grad Sch Med, Bunkyo Ku, Tokyo 1130033, JapanUniv Tokyo, Dept Human Genet, Grad Sch Med, Bunkyo Ku, Tokyo 1130033, Japan
机构:
Univ Tokyo, Dept Human Genet, Grad Sch Med, Bunkyo Ku, Tokyo 1130033, JapanUniv Tokyo, Dept Human Genet, Grad Sch Med, Bunkyo Ku, Tokyo 1130033, Japan
Ohashi, J
;
Tokunaga, K
论文数: 0引用数: 0
h-index: 0
机构:
Univ Tokyo, Dept Human Genet, Grad Sch Med, Bunkyo Ku, Tokyo 1130033, JapanUniv Tokyo, Dept Human Genet, Grad Sch Med, Bunkyo Ku, Tokyo 1130033, Japan