Haplotype variation at the IBD5/SLC22A4 locus (5q31) in coeliac disease in the Irish population

Tissue Antigens

Volumn 64, Issue 2, 2004, Pages 195-198

  Ryan, A W ^a   Thornton, J M ^a   Brophy, K ^a   Daly, J S ^a   O'Morain, C ^b   McLoughlin, R M ^b   Kennedy, N P ^a   Abuzakouk, M ^a   Stevens, F M ^c   Feighery, C ^a   Kelleher, D ^a   McManus, R ^a  

^a ST JAMES S HOSPITAL   (Ireland)

^b ADELAIDE AND MEATH HOSPITAL   (Ireland)

^c NATIONAL UNIVERSITY OF IRELAND   (Ireland)

Author keywords

5q31; Autoimmunity; Coeliac disease; Gluten sensitivity; IBD5; SLC22A4

Indexed keywords

CYTOKINE; HLA DQ ANTIGEN;

ARTICLE; CELIAC DISEASE; CHROMOSOME 2Q; CHROMOSOME 5Q; CHROMOSOME 6P; CONTROLLED STUDY; CROHN DISEASE; CYTOTOXIC LYMPHOCYTE; GENE CLUSTER; GENE LOCUS; GENETIC ANALYSIS; GENETIC CODE; GENETIC PREDISPOSITION; GENOTYPE; HAPLOTYPE; HUMAN; INFLAMMATORY DISEASE; IRELAND; MARKER GENE; POPULATION RESEARCH; PRIORITY JOURNAL; RHEUMATOID ARTHRITIS; SINGLE NUCLEOTIDE POLYMORPHISM;

CELIAC DISEASE; CHROMOSOMES, HUMAN, PAIR 5; COLITIS, ULCERATIVE; CROHN DISEASE; HAPLOTYPES; HUMANS; IRELAND; MEMBRANE TRANSPORT PROTEINS; ORGANIC CATION TRANSPORT PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 3242810394     PISSN: 00012815     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0039.2004.00251.x     Document Type: Article

References (25)

1. Sollid LM. Coeliac disease: dissecting a complex inflammatory disorder. Nat Rev Immunol 2002: 2: 647-55.
2. Sollid LM, Thorsby E. HLA susceptibility genes in coeliac disease: genetic mapping and role in pathogenesis. Gastroenterology 1993: 105: 910-22.
3. McManus R, Moloney M, Borton M et al. Association of coeliac disease with microsatellite polymorphisms close to the tumor necrosis factor genes. Hum Immunol 1996: 45: 24-31.
4. McManus R, Wilson AG, Mansfield J et al. TNF2, a polymorphism of the tumour necrosis-alpha gene promoter, is a component of the coeliac disease major histocompatibility complex haplotype. Eur J Immunol 1996: 26: 2113-8.
5. de la Concha EG, Fernandez-Arquero M, Vigil P et al. Coeliac disease and TNF promoter polymorphisms. Hum Immunol 2000: 61: 513-7.
6. Louka AS, Lie BA, Talseth B et al. Coeliac disease patients carry conserved HLA-DR3- DQ2 haplotypes revealed by association of TNF alleles. Immunogenetics 2003: 55: 339-43.
7. Zhong F, McCombs CC, Oison JM et al. An autosomal screen for genes that predispose to coeliac disease in the western counties of Ireland. Nat Genet 1996: 14: 329-33.
8. Greco L, Corazza G, Babron MC et al. Genome search in coeliac disease. Am J Hum Genet 1998: 62: 669-75.
9. Holopainen P, Mustalahti K, Uimari P et al. Candidate gene regions and genetic heterogeneity in gluten sensitivity. Gut 2001: 48: 696-701.
10. Naluai AT, Nilsson S, Gudjonsdottir AH et al. Genome-wide linkage analysis of Scandinavian affected sib-pairs supports presence of susceptibility loci for coeliac disease on chromosomes 5 and 11. Eur J Hum Genet 2001: 9: 938-44.
11. Greco L, Babron MC, Corazza GR et al. Existence of a genetic risk factor on chromosome 5q in Italian coeliac disease families. Ann Hum Genet 2001: 65: 35-41.
12. Percopo S, Babron MC, Whalen M et al. Saturation of the 5q31-q33 candidate region for coeliac disease. Ann Hum Genet 2003: 67: 265-8.
13. King AL, Yiannakou JY, Brett PM et al. A genome-wide family-based linkage study of coeliac disease. Ann Hum Genet 2000: 64: 479-90.
14. Houlston RS, Tomlinson IP, Ford D et al. Linkage analysis of candidate regions for coeliac disease genes. Hum Mol Genet 1997: 6: 1335-9.
15. Djilali-Saiah I, Schmitz J, Harfouch-Hammoud E et al. CTLA-4 gene polymorphism is associated with predisposition to coeliac disease. Gut 1998: 43: 187-9.
16. Neuhausen SL, Feolo M, Farnham J et al. Linkage analysis of HLA and candidate genes for coeliac disease in a North American family-based study. BMC Med Genet 2001: 2: 12.
17. Clot F, Fulchignoni-Lataud MC, Renoux C et al. Linkage and association study of the CTLA-4 region in coeliac disease for Italian and Tunisian populations. Tissue Antigens 1999: 54: 527-30.
18. Rioux JD, Daly MJ, Silverberg MS et al. Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease. Nat Genet 2001: 29: 223-8.
19. Daly MJ, Rioux JD, Schaffner SF et al. High- resolution haplotype structure in the human genome. Nat Genet 2001: 29: 229-32.
20. Giallourakis C, Stoll M, Miller K et al. IBD5 is a general risk factor for inflammatory bowel disease: replication of association with Crohn disease and identification of a novel association with ulcerative colitis. Am J Hum Genet 2003: 73: 205-11.
21. Ke X, Collins A, Ye S. PIRA PCR designer for restriction analysis of single nucleotide polymorphisms. Bioinformatics 2001: 17: 838-9.
22. Dean AG, Arner TG, Sangam S et al. Epi Info 2002, a database and statistics program for public health professionals for use on Windows 95, 98, ME, NT, 2000 and XP Computers. Atlanta, Georgia, USA: Centers for Disease Control and Prevention, 2002.
23. Excoffier L, Slatkin M. Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol Biol Evol 1995: 12: 921-7.
24. van Heel D, McGovern DP, Negoro K et al. Influence of the IBD5/5q31 cytokine cluster haplotype on coeliac disease genetic susceptibility. Gastroenterology 2002: 122 (Suppl.): A-386.
25. Tokuhiro S, Yamada R, Chang X et al. An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis. Nat Genet 2003: 35: 341-8.