Abstract
HLA-linked genes are relevant to celiac disease (CD); the potential genetic differences present worldwide are not fully understood. Previous results suggest that the distribution of HLA-DQ2/DQ7/DQ8 in Chile may differ from that in Europe and North America. In celiac patients and their first-degree relatives (FDRS), we assessed their clinical, serological and histological characteristics, determined HLA-DQ2, HLA-DQ7 and HLA-DQ8 alleles and genotypes, and evaluated the relations between them. A total of 222 individuals were assessed (56 cases, 166 FDRs). 16.9% of FDRs were tTG positive; 53.6% of them showed overweight/obesity and 3% undernourishment; they spontaneously declared being asymptomatic, but detailed questioning revealed that 60.7% experienced symptoms, which had not been investigated. DQ2 was present in 53.9% and 43.9.0% of cases and FDRs (p < 0.05). The most frequent genotype distribution was DQ2/DQ7 (fr 0.392 (cases) and 0.248 (FDRs), respectively, p < 0.02). The next most common genotypes were HLA-DQ2/DQ8 (fr 0.236 in FDRs and 0.176 in cases, p < 0.05). 3.92% cases were not HLA-DQ2/DQ8 carriers. Among tTG positive FDRs, 57.4%, 22.3% and 20.2% carried DQ2, DQ7 and DQ8, respectively. In cases, 72.7% of the biopsies classified Marsh ≥3 carried at least one DQ2; 91.7% of DQ2/DQ2 and 88.3% of DQ2/DQ7 were Marsh ≥3. Thus, DQ2 frequency is lower than reported; the higher frequency found for DQ8 and DQ7 concur with recent publications from Argentine and Brazil. These results suggest that although CD may manifest clinically in ways similar to those described in other populations, some genetic peculiarities in this region deserve further study.
Highlights
Celiac disease (CD) is a heritable, frequent, chronic disorder that involves small intestinal inflammation and autoimmune manifestations in response to dietary gluten
The significant geographical differences reported [9] refer mainly to prevalence of CD [11,12,13] while genetic characteristics in some areas of the globe are still insufficient and not fully understood. It is well-agreed that a significant proportion of the genetic predisposition for CD comes from human leukocyte antigen (HLA)-linked genes, estimated to account for up to 40% of the genetic load [14]
Women were more frequent among patients with classical presentations and in symptomatic first-degree relatives (FDRs)
Summary
Celiac disease (CD) is a heritable, frequent, chronic disorder that involves small intestinal inflammation and autoimmune manifestations in response to dietary gluten. The significant geographical differences reported [9] refer mainly to prevalence of CD [11,12,13] while genetic characteristics in some areas of the globe are still insufficient and not fully understood. It is well-agreed that a significant proportion of the genetic predisposition for CD comes from human leukocyte antigen (HLA)-linked genes, estimated to account for up to 40% of the genetic load [14]. Evidence about the global frequency of the disease in this group and their clinical and genetic characteristics is largely insufficient. We related the genetic findings to clinical and serological characteristics of cases and FDRs
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