Cost-effective analysis of candidate genes using htSNPs: a staged approach

被引：38

作者：

Lowe, CE

Cooper, JD

Chapman, JM

Barratt, BJ

Twells, RCJ

Green, EA

Savage, DA

Guja, C

Ionescu-Tirgoviste, C

Tuomilehto-Wolf, E

Tuomilehto, J

Todd, JA

Clayton, DG

机构：

[1] Univ Cambridge, Juvenile Diabet Res Fdn, Wellcome Trust Diabet & Inflammat Lab, Cambridge Inst Med Res, Cambridge CB2 2XY, England

[2] Queens Univ Belfast, Belfast City Hosp, Dept Med Genet, Belfast, Antrim, North Ireland

[3] Diabet Clin, Inst Diabet Nutr & Metab Dis N Paulescu, Bucharest, Romania

[4] Univ Helsinki, Natl Publ Hlth Inst, Diabet & Genet Epidemiol Unit, Helsinki, Finland

[5] Univ Helsinki, Dept Publ Hlth, Helsinki, Finland

来源：

GENES AND IMMUNITY | 2004年 / 5卷 / 04期

基金：

英国惠康基金;

关键词：

htSNPs; association studies; two-stage design; power; multi-locus TDT;

D O I：

10.1038/sj.gene.6364064

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We have previously shown that the selection of haplotype tag single nucleotide polymorphisms (htSNPs) and their statistical analysis in a multi-locus transmission/disequilibrium test (TOT) results in a more cost-effective genotyping strategy in disease association studies of genes by minimising redundancy due to linkage disequilibrium between SNPs. Further savings can be achieved by the use of a two-stage genotyping strategy. This approach is illustrated here in conjunction with the multi-locus TDT in determining whether common alleles of the immune regulatory genes RANK and its ligand TRANCE (RANKL) are associated with type 1 diabetes (T1D). A saving of approximately 75% of potential genotyping reactions could be made with minimal loss of power. There was little evidence from our analysis for association between the TRANCE and RANK genes and T1D in the populations tested.

引用

页码：301 / 305

页数：5

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