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The Single‐Nucleotide Polymorphism Lottery: How Useful are a Few Common SNPs in Identifying Disease‐Associated Alleles?
Author(s) -
Barton Anne,
Chapman Philip,
Myerscough Anne,
Pinel Tracy,
Davies Nick,
Worthington Jane,
John Sally
Publication year - 2001
Publication title -
genetic epidemiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.301
H-Index - 98
eISSN - 1098-2272
pISSN - 0741-0395
DOI - 10.1002/gepi.2001.21.s1.s384
Subject(s) - single nucleotide polymorphism , genetics , linkage disequilibrium , tag snp , biology , genotyping , snp genotyping , genetic association , haplotype , snp , candidate gene , allele , genotype , gene
It has been proposed that using association analysis of single nucleotide polymorphism (SNP) markers in candidate genes may be more successful in identifying disease susceptibility genes for complex diseases. Finding all the SNPs within a candidate gene and genotyping a large case‐control cohort is a resource‐intensive process. As linkage disequilibrium extends across small regions of the genome, the expectation is that a few common anonymous SNPs will be sufficient to detect functional disease‐associated alleles. The aim of this investigation was to compare the ability of a number of family‐ and population‐based association methods to identify known susceptibility loci using the Genetic Analysis Workshop 12 simulated data set. As expected, case‐control methods were more likely to detect association with individual SNPs but family‐based haplotyping methods appeared better able to localize the position of functional polymorphism. © 2001 Wiley‐Liss, Inc.