Genetic Epidemiology 4 - Shaking the tree: mapping complex disease genes with linkage disequilibrium

被引：138

作者：

Palmer, LJ

Cordon, LR

机构：

[1] Univ Western Australia, Queen Elizabeth II Med Ctr, Western Australian Inst Med Res, Nedlands, WA 6009, Australia

[2] Univ Western Australia, Queen Elizabeth II Med Ctr, Med Res Ctr, Nedlands, WA 6009, Australia

[3] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England

来源：

LANCET | 2005年 / 366卷 / 9492期

基金：

英国惠康基金;

关键词：

D O I：

10.1016/S0140-6736(05)67485-5

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Much effort and expense are being spent internationally to detect genetic polymorphisms contributing to susceptibility to complex human disease. Concomitantly, the technology for detecting and genotyping single nucleotide polymorphisms (SNPs) has undergone rapid development, yielding extensive catalogues of these polymorphisms across the genome. Population-based maps of the correlations amongst SNPs (linkage disequilibrium) are now being developed to accelerate the discovery of genes for complex human diseases. These genomic advances coincide with an increasing recognition of the importance of very large sample sizes for studying genetic effects. Together, these new genetic and epidemiological data hold renewed promise for the identification of susceptibility genes for complex traits. We review the state of knowledge about the structure of the human genome as related to SNPs and linkage disequilibrium, discuss the potential applications of this knowledge to mapping complex disease genes, and consider the issues facing whole genome association scanning using SNPs.

引用

页码：1223 / 1234

页数：12

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