PMID- 12590980 OWN - NLM STAT- MEDLINE DCOM- 20031210 LR - 20190906 IS - 0198-8859 (Print) IS - 0198-8859 (Linking) VI - 64 IP - 3 DP - 2003 Mar TI - A collaborative European search for non-DQA1*05-DQB1*02 celiac disease loci on HLA-DR3 haplotypes: analysis of transmission from homozygous parents. PG - 350-8 AB - The HLA-DQA1*05 with DQB1*02 alleles are a major risk factor for celiac disease (CD). To search for additional human leukocyte antigen (HLA) risk factors, we looked on the DR3-DQ2 risk haplotype, selected because it carries both DQ risk alleles in cis and is the more represented among CD patients. In a European consortium, we identified 109 families with a parent homozygous for DQA1*05-DQB1*02. We typed ten microsatellites in the extended HLA complex, and applied the homozygous-parent transmission disequilibrium test (HPTDT) and extended-TDT to transmissions from homozygous parents. These methods eliminate confounding due to linkage disequilibrium between candidate disease loci and the known risk factor DQA1*05-DQB1*02, and are favorable when sufficient families are available. We did not find evidence of association with any single marker or allele, although weak evidence for additional risk was observed, represented by preferential transmission of six adjacent markers. We tested the largest ever reported HPTDT population in CD, providing unprecedented power. We did not find significant evidence of additional risk-modifying factors on the DR3 haplotype, independent of DQA1*05-DQB1*02, although a weak tendency was observed for the B8-DR3 haplotype. This effect should be tested in large populations with significant representations of both B8-DR3 and non-B8 DR3 haplotypes. FAU - Louka, Andrew S AU - Louka AS AD - Institute of Immunology, Rikshospitalet University Hospital, Oslo, Norway. FAU - Moodie, Simon J AU - Moodie SJ FAU - Karell, Kati AU - Karell K FAU - Bolognesi, Elisabetta AU - Bolognesi E FAU - Ascher, Henry AU - Ascher H FAU - Greco, Luigi AU - Greco L FAU - Momigliano-Richiardi, Patricia AU - Momigliano-Richiardi P FAU - Partanen, Jukka AU - Partanen J FAU - Ciclitira, Paul J AU - Ciclitira PJ FAU - Sollid, Ludvig M AU - Sollid LM CN - European Genetics Cluster on Celiac Disease LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Hum Immunol JT - Human immunology JID - 8010936 RN - 0 (Genetic Markers) RN - 0 (HLA-DQ Antigens) RN - 0 (HLA-DR3 Antigen) SB - IM MH - Celiac Disease/*genetics MH - Female MH - Genetic Markers MH - Genetic Predisposition to Disease MH - HLA-DQ Antigens/genetics MH - HLA-DR3 Antigen/*genetics MH - Haplotypes/*genetics MH - *Homozygote MH - Humans MH - Male MH - Microsatellite Repeats EDAT- 2003/02/20 04:00 MHDA- 2003/12/12 05:00 CRDT- 2003/02/20 04:00 PHST- 2003/02/20 04:00 [pubmed] PHST- 2003/12/12 05:00 [medline] PHST- 2003/02/20 04:00 [entrez] AID - S0198885902008224 [pii] AID - 10.1016/s0198-8859(02)00822-4 [doi] PST - ppublish SO - Hum Immunol. 2003 Mar;64(3):350-8. doi: 10.1016/s0198-8859(02)00822-4.