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Lookup NU author(s): Dr John Mansfield
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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 pericentromeric 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.
Author(s): Fisher SA, Moody A, Mirza MM, Cuthbert AP, Hampe J, Macpherson A, Sanderson J, Forbes A, Mansfield J, Schreiber S, Lewis CM, Mathew CG
Publication type: Article
Publication status: Published
Journal: Annals of Human Genetics
ISSN (print): 0003-4800
ISSN (electronic): 1469-1809
PubMed id: 12940913
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