HLA DQ2 and/or DQ8 Is Associated With Celiac Disease–Specific Autoantibodies To Tissue Transglutaminase in Families With Thyroid Autoimmunity

Objective. We aimed to determine the prevalence of specific auto-antibodies to celiac disease (CD) in Moroccan type 1 diabetic (T1D) patients and compare the clinical and biological characteristics of seropositive and seronegative cases. Patients and Methods. A cross-sectional study was carried out on 276 T1D patients including 109 adults and 167 pediatric cases. The screening for CD was performed by an Elisa IgA anti-tissue transglutaminase antibody (tTGA) testing, combined with IgA quantification by nephelometry. Positive-IgA-tTGA cases were secondly tested for anti-endomysial antibodies (EMA) using an immunofluorescence technique, and the IgA deficiency cases were screened for IgG-tTGA. Patients with low positive tTGA titers underwent HLA-DQ2/DQ8 typing. Sociodemographic and clinical data of the patients were collected using a hetero-administered questionnaire. The comparison of clinical and biological data between seropositive and seronegative diabetics was done using independent T, Mann–Whitney U, chi-squared, and Fisher tests, which were considered significant if p value <0.05. Results. The prevalence of CD-specific auto-antibodies was estimated to be 9.1% (IC = 95%), with 25 positive cases in tTGA and EMA testing. Eight cases displayed low titers of IgA-tTGA, among which 4 were positive for HLA-DQ2, 1 for HLA-DQ8, and 1 for both DQ2 and DQ8. The other 2 cases had a biopsy-proven CD. Compared to seronegative patients, seropositive cases had a higher percentage of associated autoimmune disorders (16% vs. 2.4%, p=0.008), with a significant lower height Z-scores (median: −0.90 (−3.93 to 0.95) vs. −0.51 (−4.54 to 2.18), p=0.029) and a higher HbA1c level (median: 11.30% (7.31 to 16.00) vs. 9.30% (4.40 to17.31), p=0.022). Conclusion. The current study gave evidence of a high prevalence of CD specific auto-antibodies in T1D population. The co-existence of these two conditions was associated with a poor glycemic control, a lower height, and other autoimmune diseases. These findings may suggest the necessity of a systematic screening of CD in T1D patients.

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W1036 Do Tissue Transglutaminase Antibodies in Celiac Disease Contribute to Thyroid Autoimmunity?

Gastroenterology ◽

10.1016/s0016-5085(08)62894-2 ◽

2008 ◽

Vol 134 (4) ◽

pp. A-620

Author(s):

Afzal J. Naiyer ◽

Jayesh Shah ◽

Jianfeng Cheng ◽

Lincoln Hernandez ◽

Edward J. Ciaccio ◽

...

Keyword(s):

Celiac Disease ◽

Tissue Transglutaminase ◽

Thyroid Autoimmunity ◽

Tissue Transglutaminase Antibodies

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Testing for Antireticulin Antibodies in Patients with Celiac Disease Is Obsolete: a Review of Recommendations for Serologic Screening and the Literature

Clinical and Vaccine Immunology ◽

10.1128/cvi.00568-12 ◽

2013 ◽

Vol 20 (4) ◽

pp. 447-451 ◽

Cited By ~ 4

Author(s):

Sarada L. Nandiwada ◽

Anne E. Tebo

Keyword(s):

Celiac Disease ◽

Tissue Transglutaminase ◽

Clinical Manifestations ◽

Autoimmune Disorder ◽

Diagnostic Use ◽

Gliadin Peptide ◽

Gluten Sensitive Enteropathy ◽

Serologic Screening ◽

Related Proteins ◽

Hla Dq2

ABSTRACTCeliac disease (CD) is an autoimmune disorder that occurs in genetically susceptible individuals of all ages and is triggered by immune response to gluten and related proteins. The disease is characterized by the presence of HLA-DQ2 and/or -DQ8 haplotypes, diverse clinical manifestations, gluten-sensitive enteropathy, and production of several autoantibodies of which endomysial, tissue transglutaminase, and deamidated gliadin peptide antibodies are considered specific. Although antireticulin antibodies (ARA) have historically been used in the evaluation of CD, these assays lack optimal sensitivities and specificities for routine diagnostic use. This minireview highlights the advances in CD-specific serologic testing and the rationale for eliminating ARA from CD evaluation consistent with recommendations for diagnosis.

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Prevalence of Celiac Disease and Celiac Autoimmunity in the Toba Native Amerindian Community of Argentina

Canadian Journal of Gastroenterology and Hepatology ◽

10.1155/2015/927458 ◽

2015 ◽

Vol 29 (8) ◽

pp. 431-434 ◽

Cited By ~ 7

Author(s):

Horacio Vázquez ◽

María de la Paz Temprano ◽

Emilia Sugai ◽

Stella M Scacchi ◽

Cecilia Souza ◽

...

Keyword(s):

Celiac Disease ◽

Tissue Transglutaminase ◽

Human Leukocyte ◽

Screen Test ◽

Leukocyte Antigen ◽

Day Range ◽

Gliadin Peptides ◽

Endomysial Antibodies ◽

Very High ◽

Hla Dq2

BACKGROUND: Celiac disease (CD) is mostly recognized among subjects with a Caucasian ethnic ancestry. No studies have explored conditions predisposing Amerindians to CD.OBJECTIVE: To prospectively assess environmental, genetic and serological conditions associated with CD among members of the Toba native population attending a multidisciplinary sanitary mission.METHODS: An expert nutritionist determined daily gluten intake using an established questionnaire. Gene typing for the human leukocyte antigen (HLA) class II alleles was performed on DNA extracted from peripheral blood (HLA DQ2/DQ8 haplotype). Serum antibodies were immunoglobulin (Ig) A tissue transglutaminase (tTG) and the composite deamidated gliadin peptides/tTG Screen test. Positive cases were tested for IgA endomysial antibodies.RESULTS: A total of 144 subjects (55% female) were screened. The estimated mean gluten consumption was 43 g/day (range 3 g/day to 185 g/day). Genetic typing showed that 73 of 144 (50.7%) subjects had alleles associated with CD; 69 (94.5%) of these subjects had alleles for HLA DQ8 and four had DQ2 (5.5%). Four and six subjects had antibody concentrations above the cut-off established by the authors’ laboratory (>3 times the upper limit of normal) for IgA tTG and deamidated gliadin peptides/tTG screen, respectively. Four of these had concomitant positivity for both assays and endomysial antibodies were positive in three subjects who also presented a predisposing haplotype.CONCLUSION: The present study was the first to detect CD in Amerindians. The native Toba ethnic population has very high daily gluten consumption and a predisposing genetic background. We detected subjects with persistent CD autoimmunity and, at least, three of them fulfilled serological criteria for CD diagnosis.

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Improved efficacy by using the pTnT-rhtTG plasmid for the detection of celiac disease specific tissue transglutaminase autoantibodies in radioligand binding assays

Scandinavian Journal of Clinical and Laboratory Investigation ◽

10.3109/00365513.2011.619564 ◽

2011 ◽

Vol 71 (8) ◽

pp. 701-704 ◽

Cited By ~ 7

Author(s):

Jennifer Kjellerås ◽

Fariba Vaziri-Sani ◽

Daniel Agardh

Keyword(s):

Celiac Disease ◽

Radioligand Binding ◽

Tissue Transglutaminase ◽

Binding Assays ◽

Specific Tissue ◽

Disease Specific

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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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PREVALENCE OF GENETIC SUSCEPTIBILITY FOR CELIAC DISEASE IN BLOOD DONORS IN SÃO PAULO, BRAZIL

Arquivos de Gastroenterologia ◽

10.1590/s0004-28032016000400011 ◽

2016 ◽

Vol 53 (4) ◽

pp. 267-272 ◽

Cited By ~ 3

Author(s):

Janaína Guilhem MUNIZ ◽

Vera Lucia SDEPANIAN ◽

Ulysses FAGUNDES NETO

Keyword(s):

Celiac Disease ◽

Genetic Markers ◽

Blood Donors ◽

Tissue Transglutaminase ◽

Sao Paulo ◽

São Paulo ◽

Informed Consent Form ◽

High Prevalence ◽

Antibody Class ◽

Hla Dq2

ABSTRACT Background Celiac disease is a permanent intolerance induced by gluten, which is expressed by T-cell mediated enteropathy, and has a high prevalence in the general population. There is evidence of a strong genetic predisposition to celiac disease. Objective To determine the prevalence of genetic markers HLA-DQ2 and HLA-DQ8 in blood donors from São Paulo and measure human recombinant tissue transglutaminase antibody IgA class in HLA-DQ2 and HLA-DQ8 positive donors. Methods A total of 404 blood donors from São Paulo city and Jundiaí were included in the study and signed the informed consent form. Information regarding diarrhea, constipation and abdominal pain in the last 3 months was collected. Determination of HLADQ2 and HLADQ8 alleles was performed in all participants and human recombinant tissue transglutaminase antibody class IgA was measured only in blood donors who presentedDQ2 and/or DQ8. Results HLADQ2 and/or HLADQ8 were positive in 49% (198/404) of subjects. Positive samples were associated with alleles DR3, DR4, DR7, DR11 and DR12. The most frequent genotype was DR4-DQ8, which was present in 13.6% of samples, followed by genotypes DR3-DQ2 and DR7-DQ2 with DQB1*02 in heterozygous, which were present in 10.4% and 8.7%, respectively. Eleven out of 198 positive donors (5%) were positive to human tissue transglutaminase test. Conclusion We observed a high prevalence of genetic markers for celiac disease, HLA-DQ2 and HLA-DQ8, in blood donors from São Paulo, similar to prevalence described in Europe. These findings show that the prevalence of celiac disease should not be rare in our country, but underdiagnosed.

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