当前位置： SCI文献检索 > HUMAN IMMUNOLOGY期刊下所有文献 > A collaborative European search for non-DQA1*05-DQB1*02 celiac disease loci on HLA-DR3 haplotypes: analysis of transmission from homozygous parents.

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

Abstract：

: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.

journal_name

Hum Immunol

journal_title

Human immunology

authors

Louka AS,Moodie SJ,Karell K,Bolognesi E,Ascher H,Greco L,Momigliano-Richiardi P,Partanen J,Ciclitira PJ,Sollid LM,European Genetics Cluster on Celiac Disease.

doi

10.1016/s0198-8859(02)00822-4

subject

Has Abstract

pub_date

2003-03-01 00:00:00

pages

350-8

issue

3

eissn

0198-8859

issn

1879-1166

pii

S0198885902008224

journal_volume

64

pub_type

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