The Single‐Nucleotide Polymorphism Lottery: How Useful are a Few Common SNPs in Identifying Disease‐Associated Alleles?

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...

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Veröffentlicht in:Genetic epidemiology 2001, Vol.21 (S1), p.S384-S389
Hauptverfasser: Barton, Anne, Chapman, Philip, Myerscough, Anne, Pinel, Tracy, Davies, Nick, Worthington, Jane, John, Sally
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container_end_page S389
container_issue S1
container_start_page S384
container_title Genetic epidemiology
container_volume 21
creator Barton, Anne
Chapman, Philip
Myerscough, Anne
Pinel, Tracy
Davies, Nick
Worthington, Jane
John, Sally
description 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.
doi_str_mv 10.1002/gepi.2001.21.s1.s384
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source MEDLINE; Wiley Online Library Journals Frontfile Complete
subjects Adult
Alleles
association analysis
Case-Control Studies
Child
Chromosome Mapping
Female
Genetic Predisposition to Disease - genetics
Genetics, Population
Genotype
haplotype analysis
Haplotypes - genetics
Humans
Linkage Disequilibrium
Lod Score
Male
Middle Aged
Models, Genetic
Polymorphism, Single Nucleotide
SNP
title The Single‐Nucleotide Polymorphism Lottery: How Useful are a Few Common SNPs in Identifying Disease‐Associated Alleles?
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