Genetic variation at the chromosome 16 chemokine gene cluster:development of a strategy for association studies in complex disease

Fisher, S A, Moody, A, Mirza, M M, Cuthbert, A P, Hampe, J, Macpherson, A, Sanderson, J, Forbes, A, Mansfield, J, Schreiber, S, Lewis, C M and Mathew, C G (2003) Genetic variation at the chromosome 16 chemokine gene cluster:development of a strategy for association studies in complex disease. Annals of Human Genetics, 67 (Pt 5). pp. 377-90. ISSN 0003-4800

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Abstract

The chemokine gene cluster [CCL22, CX3CL1, CCL17] (previously known as [SCYA22, SCYD1, SCYA17]) is a candidate locus for one of the susceptibility genes for inflammatory bowel disease that are located in the peri-centromeric region of chromosome 16. Screening for sequence variation at this locus led to the detection of 14 single nucleotide polymorphisms (SNPs). An efficient experimental and computational approach was developed to estimate allele frequencies and pairwise linkage disequilibrium relationships between SNPs at this locus, and to test them for association with inflammatory bowel disease. The 12 common SNPs were assigned to 5 distinct linkage disequilibrium groups. Genotyping of one SNP from each linkage disequilibrium group in a large cohort of families with inflammatory bowel disease did not provide convincing evidence of association with either Crohn's disease or ulcerative colitis. We describe an efficient experimental design from SNP screening to association testing. This strategy can be used to test candidate genes for involvement in susceptibility to complex disease.

Item Type: Article
Uncontrolled Keywords: chemokines,chromosome mapping,chromosomes, human, pair 16,computational biology,genetic predisposition to disease,genetic variation,genotype,humans,inflammatory bowel diseases,multifactorial inheritance,multigene family,polymorphism, single nucleotide
Faculty \ School: Faculty of Medicine and Health Sciences > Norwich Medical School
Depositing User: Pure Connector
Date Deposited: 06 Aug 2014 11:44
Last Modified: 11 Apr 2019 15:41
URI: https://ueaeprints.uea.ac.uk/id/eprint/49588
DOI:

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