Using single nucleotide polymorphisms to investigate association between a candidate gene and disease.

Abstract:

:A range of study designs, using unrelated or family controls, were used to investigate the pattern of association with disease of single nucleotide polymorphisms (SNPs) within candidate gene 1 (simulated data). Strong evidence of disease association at the functional locus was detected using all study designs, and in the "general" but not the "isolated" population the functional polymorphism displayed considerably higher association than surrounding SNPs. There was much variation in the strength of association of SNPs with disease, up to 70% of which was explained by SNP allele frequency and distance from the functional polymorphism. Some common polymorphisms very close to the functional locus however showed no association with disease. Analysis of short haplotypes of SNPs reduced but did not totally remove this feature.

journal_name

Genet Epidemiol

journal_title

Genetic epidemiology

authors

Saunders CL,Crockford GP,Bishop DT,Barrett JH

doi

10.1002/gepi.2001.21.s1.s415

subject

Has Abstract

pub_date

2001-01-01 00:00:00

pages

S415-20

eissn

0741-0395

issn

1098-2272

journal_volume

21 Suppl 1

pub_type

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