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Nutrients 2015, 7(6), 4955-4965; doi:10.3390/nu7064955

DQ2, DQ7 and DQ8 Distribution and Clinical Manifestations in Celiac Cases and Their First-Degree Relatives

1
Human Nutrition, Institute of Nutrition and Food Technology (INTA), University of Chile, Santiago, Chile
2
Department of Pediatrics, Faculty of Medicine, University of Chile, Santiago, Chile
3
Hospital Militar, Santiago, Chile
4
Nutrition Department, Faculty of Medicine, University of Chile, Santiago, Chile
*
Author to whom correspondence should be addressed.
Received: 20 April 2015 / Revised: 29 May 2015 / Accepted: 5 June 2015 / Published: 18 June 2015
(This article belongs to the Special Issue Gluten Related Disorders: People Shall not Live on Bread Alone)
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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. View Full-Text
Keywords: celiac disease; first degree relatives; HLA- DQ2; HLA-DQ7; HLA-DQ8 celiac disease; first degree relatives; HLA- DQ2; HLA-DQ7; HLA-DQ8
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

Araya, M.; Oyarzun, A.; Lucero, Y.; Espinosa, N.; Pérez-Bravo, F. DQ2, DQ7 and DQ8 Distribution and Clinical Manifestations in Celiac Cases and Their First-Degree Relatives. Nutrients 2015, 7, 4955-4965.

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