THE PREVALENCE OF HLA DQ2 AND DQ8 IN PATIENTS WITH CELIAC DISEASE, IN FAMILY AND IN GENERAL POPULATION

Background: Celiac disease is an enteropathy characterized by gluten sensitivity and broad clinical aspect. Has a multifactorial cause and depends on genetic, immunological and environmental factors for its development. The genetic influence is given mostly by the human leukocyte antigens HLA DQ2 and DQ8. Aim: To evaluate the prevalence of human leukocyte antigens DQ2 and DQ8 in three different groups: patients with celiac disease, first-degree relatives and the general population. Method: Retrospective analysis that evaluated serologic and endoscopic data of 74 patients with celiac disease and 109 non-celiac, which were subdivided into two subgroups: non-celiac who had first-degree relatives with celiac and non-celiac who did not. All patients underwent laboratory examination for screening genetic sensitivity given by HLA DQ2 and HLA DQ8 by. Results: The presence of HLA DQ2 and DQ8 was identified in 98,4% of 74 celiac patients, of which 79,7% had only HLA DQ2; 8,1% had only HLA DQ8 and 10,8% had both antigens histocompatibility. In the group of relatives of celiac patients, were included 29 patients; among them, 89,6% had HLA DQ2 and/or DQ8; 76% only the HLA DQ2, 10,3% only HLA DQ8 and 3,4% presented both human leukocyte antigens (HLA). Conclusion: HLA DQ2/DQ8 was present in 98,4% of celiac patients; 89,6% relatives of celiac family and in 55,4% of people from the general population without family celiac.

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CELIAC DISEASE IN CHILDREN FROM MADEIRA ISLAND AND ITS PREVALENCE IN FIRST DEGREE RELATIVES

Arquivos de Gastroenterologia ◽

10.1590/s0004-28032014000200015 ◽

2014 ◽

Vol 51 (2) ◽

pp. 151-154 ◽

Cited By ~ 2

Author(s):

Joana Raquel Henriques OLIVEIRA ◽

António Jorge CABRAL ◽

Elena FERREIRA ◽

Filipa CAPELINHA ◽

Hélder SPÍNOLA ◽

...

Keyword(s):

Celiac Disease ◽

Tissue Transglutaminase ◽

Human Leukocyte ◽

Hla Typing ◽

Intestinal Biopsy ◽

Madeira Island ◽

First Degree Relatives ◽

Small Intestinal Biopsy ◽

Systemic Disorder ◽

Hla Dq2

ContextIt is well recognized that celiac disease is an immune-mediated systemic disorder highly prevalent among relatives of celiac patients.ObjectivesThe aim of this study is to determine the prevalence of celiac disease in a group of first degree relatives of celiac children, and to access the frequency of human leukocyte antigen HLA-DQ2 and DQ8 in celiac disease patients and their affected relatives.MethodsA survey was conducted of 39 children with celiac disease with follow-up in the Pediatric outpatient’s clinic of Dr. Nélio Mendonça Hospital, in Madeira Island, Portugal. Were invited 110 first degree relatives to undergo serological screen for celiac disease with IgA antibody to human recombinant tissue transglutaminase (IgA-TGG) quantification. In all seropositive relatives, small intestinal biopsy and HLA typing was recommended.ResultsHLA- typing was performed in 38 celiac patients, 28/74% DQ2 positive, 1/2% DQ8 positive and 9/24% incomplete DQ2. Positive IgA-TGG was found in five out of the 95 relatives, and CD was diagnosed in three of them. Three relatives had the presence of HLA-DQ2, two were DQ2 incomplete (DQB1*02).ConclusionsThe prevalence of celiac disease among first degree celiac patients´ relatives was 3.1%, 4.5 times higher than the general Portuguese population (0,7%) witch reinforces the need of extensive diagnostic screening in this specific group. HLA-DQ2 typing may be a tool in the diagnostic approach.

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Pattern of human leukocyte antigens in Turkish children with celiac disease

Pediatrics International ◽

10.1046/j.1442-200x.2000.01311.x ◽

2000 ◽

Vol 42 (6) ◽

pp. 678-681 ◽

Cited By ~ 7

Author(s):

Leyla Tumer ◽

Buket Altuntas ◽

Alev Hasanoglu ◽

Oguz Soylemezoglu ◽

Turgay Arinsoy

Keyword(s):

Celiac Disease ◽

Human Leukocyte ◽

Human Leukocyte Antigens ◽

Turkish Children ◽

Leukocyte Antigens

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Immunoinformatic Analysis of Human Thyroglobulin

Cybernetics and Information Technologies ◽

10.2478/cait-2020-0073 ◽

2020 ◽

Vol 20 (6) ◽

pp. 194-200

Author(s):

Irini Doytchinova ◽

Andrey Tchorbanov ◽

Stefan Ivanov

Keyword(s):

Autoimmune Thyroid Disease ◽

Human Leukocyte ◽

B Cell Receptors ◽

Thyroid Peroxidase ◽

Human Leukocyte Antigens ◽

Peptide Fragments ◽

Autoimmune Thyroid ◽

Leukocyte Antigens ◽

Hla Dr3 ◽

Hla Dq2

AbstractThe AutoImmune ThyroiDitis (AITD), known as Hashimoto’s disease, is a chronic autoimmune thyroid disease progressively developed to hypothyroidism. The AITD is characterized by the formation of autoantibodies targeting two specific thyroid antigens, Thyroglobulin (Tg) and Thyroid PerOxidase (TPO). Tg is a precursor of the thyroid hormones while TPO catalyses their synthesis. The AITD has a strong genetic predisposition. During the last years, it was found that the susceptibility to AITD is associated with certain Human Leukocyte Antigens (HLA) class II genes of loci DR and DQ. In the present study, we applied in-house immunoinformatic tools to identify peptides originating from Tg and binding to AITD susceptible alleles: HLA-DR3, HLA-DR4, HLA-DR5, HLA-DQ2 and HLA-DQ8. Five peptide fragments containing promiscuous overlapping binders were selected. These were p470, p949, p1948, p2348 and p2583. Only one of them contains a known epitope (p1948). The rest have not been reported yet. The selected peptide fragments will be coupled to monoclonal antibodies specific to inhibitory B cell receptors designed to suppress the production of Tg autoantibodies.

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