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

2015 ◽  
Vol 29 (8) ◽  
pp. 431-434 ◽  
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.

scholarly journals Biased T Cell Receptor Usage Directed against Human Leukocyte Antigen DQ8-Restricted Gliadin Peptides Is Associated with Celiac Disease

Immunity ◽  
2012 ◽  
Vol 37 (4) ◽  
pp. 611-621 ◽  
Author(s):  
Sophie E. Broughton ◽  
Jan Petersen ◽  
Alex Theodossis ◽  
Stephen W. Scally ◽  
Khai Lee Loh ◽  
...  
Keyword(s):  
Celiac Disease ◽  
T Cell ◽  
Human Leukocyte Antigen ◽  
T Cell Receptor ◽  
Human Leukocyte ◽  
Cell Receptor ◽  
Leukocyte Antigen ◽  
Receptor Usage ◽  
Gliadin Peptides

scholarly journals TagSNP approach for HLA Risk Allele Genotyping of Saudi Celiac Disease Patients: Effectiveness and Pitfalls

2021 ◽  
Author(s):  
Reham Baaqeel ◽  
Babajan Banaganapalli ◽  
Hadiah Bassam Al Mahdi ◽  
Mohammed A. Salama ◽  
Bakr H. Alhussaini ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Local Population ◽  
Human Leukocyte ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Leukocyte Antigen ◽  
Tag Snps ◽  
Ethnic Populations ◽  
Hla Haplotypes ◽  
Hla Dq2

Background: Celiac disease (CD) is a genetically complex autoimmune disease which is triggered by dietary gluten. Human Leukocyte Antigen (HLA) class II genes are known to act as high-risk markers for CD, where >95% of CD patients carry (HLA)- DQ2 and/or DQ8 alleles. Therefore, this study was conducted to investigate the distribution of HLA haplotypes among Saudi CD patients and healthy controls by using the tag Single Nucleotide Polymorphisms (SNP).Methods: HLA-tag SNPs showing strong linkage value (r2>0.99) were used to predict the HLA DQ2 and DQ8 genotypes in 101 Saudi CD patients and in 103 healthy controls by using Real Time Polymerase Chain Reaction (RT-PCR) technique. Genotype calls were further validated by Sanger sequencing method.Results: A total of 63.7% of CD cases and of 60.2% of controls were predicted to carry HLA-DQ2 and DQ8 heterodimers, either in the homozygous or heterozygous states. The prevalence of DQ8 in our CD patients was predicted to be higher than the patients from other ethnic populations (35.6%). More than 32% of the CD patients were found to be non-carriers of HLA risk haplotypes as predicted by the tag SNPs.Conclusion: This study highlights that the Caucasian specific HLA-tag SNPs would be of limited value to accurately predict CD specific HLA haplotypes in Saudi population, when compared to the Caucasian groups. Prediction of risk haplotypes by tag SNPs in ethnic groups is a good alternate approach as long as the tag SNPs were identified from the local population genetic variant databases.

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

2014 ◽  
Vol 51 (2) ◽  
pp. 151-154 ◽  
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.

Immunogenetics of Celiac Disease: A Focus on Arab Countries

2020 ◽  
Vol 20 (4) ◽  
pp. 275-285 ◽  
Author(s):  
Nadin Younes ◽  
Salma Younes ◽  
Ola. A. Alsharabasi ◽  
Mohamed E. El Zowalaty ◽  
Ibrahim Mustafa ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Genetic Epidemiology ◽  
Arab World ◽  
Human Leukocyte ◽  
Epidemiological Studies ◽  
Arab Countries ◽  
Global Perspective ◽  
Genetic Profile ◽  
Leukocyte Antigen ◽  
Genetic And Environmental Factors

Celiac Disease (CD) is a complex immunogenic disease mainly triggered by gluten intake in genetically susceptible individuals with a prevalence of 1 in 100-300. CD results from the interplay between genetic and environmental factors. Genetic susceptibility is believed to play a prominent role in the pathogenicity of CD, mainly due to human leukocyte antigen (HLA)-related class II genes. Although CD is wellrecognized among Arab populations, there are few studies on the genetic epidemiology and prevalence of CD in the Arab countries. Therefore, the aim of this review was to highlight the importance of studying this disease in the Arab world in the context of a global perspective. Within the few studies published so far, it was found that Arab populations have a distinctive susceptibility genetic profile from other ethnic groups with the DQ2.5 and DQ8 genotypes that are considered the major genotypes that confer susceptibility among Arab patients with CD. Our findings will pave the way to perform further epidemiological studies that will help identify potential therapeutic targets against CD among Arab patients that are diagnosed with CD.

scholarly journals Celiac Disease Revisited

2021 ◽  
pp. 1-14
Author(s):  
João Calado ◽  
Mariana Verdelho Machado
Keyword(s):  
Celiac Disease ◽  
Systemic Disease ◽  
Human Leukocyte ◽  
Risk Groups ◽  
Gluten Free Diet ◽  
Gluten Free ◽  
Serological Tests ◽  
Leukocyte Antigen ◽  
Human Leukocyte Antigen Haplotype ◽  
Circulating Autoantibodies

Celiac disease (CD) is a systemic disease triggered by gluten ingestion in genetically predisposed individuals. It manifests primarily as an autoimmune enteropathy associated with specific circulating autoantibodies and a human leukocyte antigen haplotype (HLA-DQ2 or HLA-DQ8). It afflicts roughly 1% of the population, though the majority of patients remain undiagnosed. Diarrhea and malabsorption are classic manifestations of CD; however, both children and adults can be paucisymptomatic and present extraintestinal manifestations such as anemia, osteoporosis, and abnormal liver tests. CD screening is not recommended for the general population, and it should be focused on high-risk groups. CD diagnosis is challenging and relies on serological tests, duodenal histology, and genetic testing. Particularly difficult presentations to manage are seronegative patients, seropositive patients without villus atrophy, and patients who have started a gluten-free diet before the diagnostic workup. The only proven treatment is a lifelong gluten-free diet. We present an in-depth review on the physiopathology and management of CD, with a particular emphasis on diagnostic challenges.

Sa1325 The Human Leukocyte Antigen DQ 2.2 and Celiac Disease

2012 ◽  
Vol 142 (5) ◽  
pp. S-273 ◽  
Author(s):  
Amani Mubarak ◽  
Eric Spierings ◽  
Victorien M. Wolters ◽  
Ingrid M. van Hoogstraten ◽  
Corneille M. Kneepkens ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Human Leukocyte Antigen ◽  
Human Leukocyte ◽  
Leukocyte Antigen

Low-Risk Human Leukocyte Antigen Genes and Mild Villous Atrophy Typify Celiac Disease with Immunoglobulin A Deficiency

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Enrico Schirru ◽  
Rita Désirée Jores ◽  
Rossano Rossino ◽  
Mara Corpino ◽  
Francesco Cucca ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Human Leukocyte Antigen ◽  
Villous Atrophy ◽  
Immunoglobulin A ◽  
Human Leukocyte ◽  
Low Risk ◽  
Leukocyte Antigen

scholarly journals The Prevalence of Celiac Disease-Specific Auto-Antibodies in Type 1 Diabetes in a Moroccan Population

2019 ◽  
Vol 2019 ◽  
pp. 1-9
Author(s):  
Ider Oujamaa ◽  
Majda Sebbani ◽  
Lahcen Elmoumou ◽  
Aïcha Bourrahouate ◽  
Rabiy El Qadiry ◽  
...  
Keyword(s):  
Celiac Disease ◽  
Tissue Transglutaminase ◽  
Iga Deficiency ◽  
Cross Sectional Study ◽  
Biological Data ◽  
Cross Sectional ◽  
Systematic Screening ◽  
Lower Height ◽  
Hla Dq2

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.

Sign in / Sign up

Export Citation Format

Share Document