A collaborative European search for non-DQA1 *05-DQB1 *02 Celiac disease loci on HLA-Dr3 haplotypes: Analysis of transmission from homozygous parents

Human Immunology

Volumn 64, Issue 3, 2003, Pages 350-358

  Louka, Andrew S ^a   Moodie, Simon J ^b   Karell, Kati ^c   Bolognesi, Elisabetta ^d   Ascher, Henry ^e   Greco, Luigi ^f   Momigliano Richiardi, Patricia ^d   Partanen, Jukka ^c   Ciclitira, Paul J ^b   Sollid, Ludvig M ^a,g   Holopainen, P ^c   Collin, P ^h   Mustalahti, K ^h   Maki M ^h   Clerget Darpoux, F ⁱ   Babron, M C ⁱ   Clot, F ⁱ   Hugot, J P ^j   D'Alfonso, S ^d   Giordano, M ^d   Mellai, M ^d   Coto, I ^f   Percopo, S ^f   Tosi, R ^k   Lie, B A ^a   Talseth, B ^a   Ek, J ^l   Gudjonsdottir A H ^e   Kristiansson, B ^e   Adamovic, S ^m   Martinsson, T ^m   Samuelsson, L ^m   Torinsson Naluai, A ^m   Wahlstrom J ^m   Nilsson, S ⁿ   Nerman, Olle ⁿ   Fraser, J ^b   King, A ^b   Kondeatis, E ^o   Vaughan, R W ^o   more..

^a OSLO UNIVERSITY HOSPITAL   (Norway)

^b ST THOMAS HOSPITAL   (United Kingdom)

^c FINNISH RED CROSS BLOOD SERVICE   (Finland)

^d UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^e QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

^f UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^g UNIVERSITY OF OSLO   (Norway)

^h UNIVERSITY OF TAMPERE   (Finland)

ⁱ INSERM   (France)

^j HÔPITAL ROBERT DEBRÉ   (France)

^k CNR   (Italy)

^l Buskerud Hospital Trust   (Norway)

^m SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

ⁿ CHALMERS UNIVERSITY OF TECHNOLOGY   (Sweden)

^o GUY S HOSPITAL   (United Kingdom)

more..

Author keywords

Celiac disease; HLA; Homozygous parent TDT; Linkage disequilibrium; Polymorphism (genetics)

Indexed keywords

HLA DQ ANTIGEN; HLA DQA1 ANTIGEN; HLA DQB1 ANTIGEN; UNCLASSIFIED DRUG;

ALLELISM; ARTICLE; CELIAC DISEASE; CONTROLLED STUDY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC PREDISPOSITION; GENETIC RISK; GENOTYPE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; MICROSATELLITE MARKER; POPULATION GENETICS; PRIORITY JOURNAL; RISK ASSESSMENT;

EID: 0037371211     PISSN: 01988859     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0198-8859(02)00822-4     Document Type: Article

References (26)

1. Sollid LM: Molecular basis of celiac disease. Annu Rev Immunol 18:53, 2000.
2. Sollid LM, Markussen G, Ek J, Gjerde H, Vartdal F, Thorsby E: Evidence for a primary association of celiac disease to a particular HLA-DQ α/β heterodimer. J Exp Med 169:345, 1989.
3. The MHC Sequencing Consortium: Complete sequence and gene map of a human major histocompatibility complex. Nature 401:921, 1999.
4. Mazzilli MC, Ferrante P, Mariani P, Martone E, Petronzelli F, Triglione P, Bonamico M: A study of Italian pediatric celiac disease patients confirms that the primary HLA association is to the DQ(α1 *0501, β1*0201) heterodimer. Hum Immunol 33:133, 1992.
5. Lie BA, Sollid LM, Ascher H, Ek J, Akselsen HE, Rønningen KS, Thorsby E, Undlien DE: A gene telomeric of the HLA class I region is involved in predisposition to both type 1 diabetes and coeliac disease. Tissue Antigens 54:162, 1999.
6. Lopez-Vazquez A, Rodrigo L, Fuentes D, Riestra S, Bousono C, Garcia-Fernandez S, Martinez-Borra J, Gonzalez S, Lopez-Larrea C: MHC class I chain related gene A (MICA) modulates the development of coeliac disease in patients with the high risk heterodimer DQA1 *0501/DQB1 *0201. Gut 50:336, 2002.
7. Lopez-Vazquez A, Rodrigo L, Fuentes D, Riestra S, Bousono C, Garcia-Fernandez S, Martinez-Borra J, Gonzalez S, Lopez-Larrea C: MICA-A5.1 allele is associated with atypical forms of celiac disease in HLA-DQ2-negative patients. Immunogenetics 53:989, 2002.
8. Undlien DE, Akselsen HE, Joner G, Dahl-Jørgensen K, Sóvik O, Rónningen KS, Thorsby E: No independent associations of LMP2 and LMP7 polymorphisms with susceptibility to develop IDDM. Diabetes 46:307, 1997.
9. Lie BA, Todd JA, Pociot F, Nerup J, Akselsen HE, Jøner G, Dahl-Jøsrgensen K, Rønningen KS, Thorsby E, Undlien DE: The predisposition to type 1 diabetes linked to the human leukocyte antigen complex includes at least one non-class II gene. Am J Hum Genet 64:793, 1999.
10. de la Concha EG, Fernandez-Arquero M, Vigil P, Rubio A, Maluenda C, Polanco I, Fernandez C, Figueredo MA: Celiac disease and TNF promoter polymorphisms. Hum Immunol 61:513, 2000.
11. Karell K, Holopainen P, Mustalahti K, Collin P, Mäki M, Partanen J: Not all HLA DR3 DQ2 haplotypes confer equal susceptibility to coeliac disease: transmission analysis in families. Scand J Gastroenterol 37:56, 2002.
12. Polvi A, Mäki M, Collin P, Partanen J: TNF microsatellite alleles a2 and b3 are not primarily associated with celiac disease in the Finnish population. Tissue Antigens 51:553, 1998.
13. McManus R, Wilson AG, Mansfield J, Weir DG, Duff GW, Kelleher D: TNF2, a polymorphism of the tumor necrosis-α gene promoter, is a component of the celiac disease major histocompatibility complex haplotype. Eur J Immunol 26:2113, 1996.
14. Van Belzen MJ, Sandkuijl LA, Strengman E, Mulder CJJ, Crusius JBA, Peña AS, Pearson PL, Houwen RHJ, Wijmenga C: A new locus within the MHC region strongly contributes to celiac disease. J Pediatr Gastroenterol Nutr 31:S15, 2000 (Abstract #48).
15. Fernandez L, Fernandez-Arquero M, Gual L, Lazaro F, Maluenda C, Polanco I, Figueredo MA, De La Concha EG: Triplet repeat polymorphism in the transmembrane region of the MICA gene in celiac disease. Tissue Antigens 59:219, 2002.
16. Sham PC, Curtis D: An extended transmission/disequilibrium test (TDT) for multi-allele marker loci. Ann Hum Genet 59(Pt 3):323, 1995.
17. Mustalahti K, Sulkanen S, Holopainen P, Laurila K, Collin P, Partanen J, Mäki M: Coeliac disease among healthy members of multiple case coeliac disease families. Scand J Gastroenterol 37:161, 2002.
18. Walker-Smith JA, Guandalini S, Schmitz J, Shmerling DH, Visakorpi JK: Revised criteria for diagnosis of coeliac disease. Report of Working Group of European Society of Paediatric Gastroenterology and Nutrition. Arch Dis Child 65:909, 1990.
19. Rønningen KS, Spurkland A, Iwe T, Vartdal F, Thorsby E: Distribution of HLA-DRB1, -DQA1 and -DQB1 alleles and DQA1-DQB1-DQB1 genotypes among Norwegian patients with insulin-dependent diabetes mellitus. Tissue Antigens 37:105, 1991.
20. Olerup O, Zetterquist H: HLA-DR typing by PCR amplification with sequence-specific primers (PCR - SSP) in 2 hours: an alternative to serological DR typing in clinical practice including donor-recipient matching in cadaveric transplantation. Tissue Antigens 39:225, 1992.
21. Olerup O, Aldener A, Fogdell A: HLA-DQB1 and -DQA1 typing by PCR amplification with sequence-specific primers (PCR-SSP) in 2 hours. Tissue Antigens 41:119, 1993.
22. Klitz W, Stephens JC, Grote M, Carrington M: Discordant patterns of linkage disequilibrium of the peptide-transporter loci within the HLA class II region. Am J Hum Genet 57:1436, 1995.
23. Price P, Witt C, Allcock R, Sayer D, Garlepp M, Kok CC, French M, Mallal S, Christiansen F: The genetic basis for the association of the 8.1 ancestral haplotype (A1, B8, DR3) with multiple immunopathological diseases. Immunol Rev 167:257, 1999.
24. Koeleman BV, De Groot KN, Van Der Slik AR, Roep BO, Giphart MJ: Observations association between D6S2223 and type I diabetes independent of HLA class II in Dutch families. Diabetologia 45:598, 2002.
25. Congia M, Frau F, Lampis R, Frau R, Mele R, Cucca F, Muntoni F, Porcu S, Boi F, Contu L, La Nasa G, Mulargia M, Pirastu M, Cao A, De Virgiliis S: A high frequency of the A30, B18, DR3, DRw52, DQw2 extended haplotype in Sardinian celiac disease patients: further evidence that disease susceptibility is conferred by DQ A1 *0501, B1 *0201. Tissue Antigens 39:78, 1992.
26. Kaur G, Sarkar N, Bhatnagar S, Kumar S, Rapthap CC, Bhan MK, Mehra NK: Pediatric celiac disease in India is associated with multiple DR3-DQ2 haplotypes. Hum Immunol 63:677, 2002.