Gastroenterology Unit, GKT, The Rayne Institute, St Thomas Hospital, London, UK,
Analysis of candidate genes on chromosome 19 in coeliac disease: an association study of the KIR and LILR gene clusters
Article first published online: 16 JUL 2002
European Journal of Immunogenetics
Volume 29, Issue 4, pages 287–291, August 2002
How to Cite
Moodie, S. J., Norman, P. J., King, A. L., Fraser, J. S., Curtis, D., Ellis, H. J., Vaughan, R. W. and Ciclitira, P. J. (2002), Analysis of candidate genes on chromosome 19 in coeliac disease: an association study of the KIR and LILR gene clusters. European Journal of Immunogenetics, 29: 287–291. doi: 10.1046/j.1365-2370.2002.00313.x
South Thames Tissue Typing, Guys Hospital, St Thomas Street, London, UK, and
Academic Department of Psychological Medicine, St Bartholomew's and the Royal London School of Medicine and Dentistry, Turner Street, London, UK.
- Issue published online: 16 JUL 2002
- Article first published online: 16 JUL 2002
- Received 6 August 2001; revised 22 October 2001; accepted 8 December 2001
Coeliac disease is strongly heritable, with more than half of the genetic susceptibility estimated to come from genes outside the HLA region. Several candidate regions have been suggested from genome-wide linkage studies including chromosome 19q13.4 where linkage has been replicated between populations. The natural killer (NK) cell immunoglobulin-like receptors (KIRs) and leukocyte immunoglobulin-like receptor (LILR, also known as ILT and LIR) gene clusters lie within this region in the leukocyte receptor cluster (LRC). KIR molecules are involved in cytotoxic lymphocyte function and expressed by intraepithelial T and NK cells in the duodenum. We studied 132 unrelated UK Caucasian coeliac patients and their parents together with a control group of 171 UK Caucasians. PCR-SSP for KIR2DL1, KIR2DL2, KIR2DL3, KIR2DL5, LILRA3 (ILT6), LILRA3 deletion and an LILRA3 exon 3 single nucleotide polymorphism (SNP) allowed classification of KIR genotypes into five categories and determination of homozygosity or heterozygosity for the common A and B type KIR haplotypes (as defined in the text) and for the LILRA3 deletion. Case–control analysis found no association of the five KIR genotype categories, the A or B KIR haplotypes, the LILRA3 gene deletion or the LILRA3 exon 3 SNP with coeliac disease. A transmission disequilibrium test also found no association of the A and B KIR haplotypes or the LILRA3 gene deletion with coeliac disease.