Relationship of HLA-DQ8 and severity of celiac disease: Comparison of New York and Parisian cohorts

Serology in adults with celiac disease: limited accuracy in patients with mild histological lesions

“…The prevalence of -DQ2 and -DQ8 heterodimers (57.4 and 32.3%) in our study confirms the evidence of a strong genetic predisposition to CD. We find an influence of HLA-DQ2/-DQ8 status on the degree of villous atrophy, as previously suggested [33]. In our cohort there is a tendency toward a higher predominance of the HLA-DQ2/-DQ8 genotype in patients with TVA (data not shown).…”

“…Though it is conceivable that more severe intestinal damage is correlated with a symptomatic presentation, we are unable to find a link between the degree of villous atrophy and the disease, as shown in another study [33]. However, it must be stressed that CD mucosal lesions might be patchy [4], and that we had no way of measuring the extent of the lesions throughout the small bowel in our patients.…”

HLA DQ Gene Dosage and Risk and Severity of Celiac Disease

“…15 One recent study suggested that DQ8 may be more common in CD patients from the East Coast United States than in a French cohort. 16 While it appears that carriage of these HLA alleles is permissive for CD, studies based on DR typing suggested that a double dose of DR3 (often associated with DQ2) may be associated with a higher risk. 17 18 The data using direct DQ genotyping are limited to studies in European and North African countries.…”

Investigating the early metabolic fingerprint of celiac disease – a prospective approach

“…While the influence of some of these environmental factors is being clarified or is still a question of debate [4,5], the relevance of the risk alleles of the Human Leukocyte Antigen (HLA)-DQ2 and HLA-DQ8 for the development of CD is well established: Over 90% of CD patients carry the alleles encoding HLA-DQ2 molecule; most of the remaining CD patients carry the HLA-DQ8 heterodimers. However, although around 25% of the European general population is positive for the HLA-DQ2 heterodimer (and ~50% if HLA-DQ8 is also included), only a small fraction (~1%) will develop CD [6][7][8]. This indicates that the HLA-DQ2 and/or HLA-DQ8 risk alleles are necessary but not sufficient for the development of the disease [3].…”