A collaborative European search for non-DQA1*05-DQB1*02 celiac disease loci on HLA-DR3 haplotypes: analysis of transmission from homozygous parents

التفاصيل البيبلوغرافية
العنوان: A collaborative European search for non-DQA1*05-DQB1*02 celiac disease loci on HLA-DR3 haplotypes: analysis of transmission from homozygous parents
المؤلفون: Henry Ascher, Jukka Partanen, Paul J. Ciclitira, Elisabetta Bolognesi, Patricia Momigliano-Richiardi, S J Moodie, Kati Karell, Luigi Greco, A.S. Louka, Ludvig M. Sollid
المصدر: Human Immunology. 64:350-358
بيانات النشر: Elsevier BV, 2003.
سنة النشر: 2003
مصطلحات موضوعية: Genetic Markers, Male, musculoskeletal diseases, Linkage disequilibrium, endocrine system diseases, Immunology, Population, HLA-DR3, Polymorphism (biology), Human leukocyte antigen, Biology, HLA-DR3 Antigen, HLA-DQ Antigens, Humans, Immunology and Allergy, Genetic Predisposition to Disease, Risk factor, skin and connective tissue diseases, education, Genetics, education.field_of_study, Homozygote, Haplotype, nutritional and metabolic diseases, General Medicine, Transmission disequilibrium test, Celiac Disease, Haplotypes, Female, Microsatellite Repeats
الوصف: 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.
تدمد: 0198-8859
DOI: 10.1016/s0198-8859(02)00822-4
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11984e12333c5f4b02caa8bb30a6c366
https://doi.org/10.1016/s0198-8859(02)00822-4
Rights: CLOSED
رقم الانضمام: edsair.doi.dedup.....11984e12333c5f4b02caa8bb30a6c366
قاعدة البيانات: OpenAIRE
الوصف
تدمد:01988859
DOI:10.1016/s0198-8859(02)00822-4