HLA-DQ2 and -DQ8 genotypes in celiac and healthy Libyan children

Alarida, K.; Harown, Jumma; Pierro, Maria; Drago, Sandro; Catassi, Carlo

doi:10.1016/j.dld.2009.09.004

Cited by 30 publications

(28 citation statements)

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“…There is a very strong genetic contribution to the pathogenesis of CD and most patients (95%) express HLA-DQ2 heterodimer (DQA1*05 DQB1*02), either in cis in DR3 individuals or in trans in DR5/DR7 patients, and the others express HLA-DQ8 (DQA1*03 DQB1*0302). HLA related genes are responsible for 40% of the genetic contribution in CD (2) and about 30% of the general population shows the HLA-DQ2 and/or DQ8 haplotype although only 1% develops CD; this means that HLA-DQ2 and HLA-DQ8 are necessary but not sufficient factors to cause CD. The absence of these alleles is significant for high negative predictive value; in fact, virtually all CD patients carry HLA-DQ2 and/ -DQ8 molecules or one chain of the DQ2 heterodimer (3)(4)(5).…”

Section: Introductionmentioning

confidence: 99%

HLA-DQ typing in the diagnostic algorithm of celiac disease

Piccini

Vascotto

Serracca

et al. 2012

Rev. esp. enferm. dig.

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Objective: celiac disease (CD) is an immune-mediated chronic inflammatory disease associated with HLA-DQ2 and DQ8 molecules. We evaluated the role of HLA in the CD diagnostic algorithm in order to contribute to the development of practical indications for the use of HLA typing.Material and methods: we selected 317 subjects typed for DR-DQ genes. CD was present in 123 patients, and 89 were included in the study; a control sample of 70 healthy individuals was recruited.Results: 64% of patients with CD carried DQ2 heterodimer (a5b2), 13.5% carried DQ8 heterodimer without DQ2, 21.4% only showed b2 chain and 1.1% were positive for DQ2 a5 chain. The only presence of a5 chain did not predispose to CD, while DQB1*02 allele resulted more frequent than in other reports, pointing out the intrinsic correlation between b2 chain and CD. In the case-control study we observed a progression of increased risk, ranging from 1:7 for HLA-DQ2 homozygous to 1:85 for DQ8 heterozygous subjects. Overall, 8,6% of first degree family members were affected, exclusively in presence of HLA-DQ2, -DQ8 or DQB1*02, and CD was significantly more frequent among siblings than parents. Finally, considering the different patterns of clinical presentation among the HLA-DQ risk classes identified we found no relationship between CD clinical presentation and HLA-DQ risk categories.Conclusions: our results strengthen the evidence that HLA-DQ status strongly influences the development of CD and demonstrate that knowledge of a patient's HLA-DQ genotype allows to establish clinically relevant genetic risk profiles.

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Section: Introductionmentioning

confidence: 99%

HLA-DQ typing in the diagnostic algorithm of celiac disease

Piccini

Vascotto

Serracca

et al. 2012

Rev. esp. enferm. dig.

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“…Alarida et al, carried out a study in North Africa with 156 healthy children, where 3.2% of DQ2 and DQ8, 7.7% DQ2 with DQB1*02 homozygous, 23% DQ2 with DQB1*02/X and 19% DQ8, 4.5% DQ8 with DQB1*02 homozygous were observed, and 14.7% did not present the DQ2 and DQ8 alleles (1) .In Brazil, Silva et al (33) , found a frequency of 84% of DQB1*02 allele in 25 Brazilian patients with CD, while in the health individuals this allele was found in a frequency of 33%. Additionally, this study concluded that the alleles DQB1*02, DRB1*03 e DRB1*07 lead to a susceptibility to CD development in Brazilian patients.…”

Section: Introductionmentioning

confidence: 99%

Prevalence of Genetic Susceptibility for Celiac Disease in Blood Donors in São Paulo, Brazil

Muniz

Sdepanian

Neto

2016

Arq. Gastroenterol.

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-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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“…Most of the CD patients have HLA DQ2 and DQ8 alleles which are responsible from 40% of genetic susceptibility to CD [9]. It has been indicated that the prevalance of DQ2 and DQ8 genes differs according to the different populations [18]. In our study, the most seen alleles were HLADQA1*0501 and HLADQB1*0201 allels (52.5%), respectively HLADQA1*0501 allel and HLADQA1*0501, HLADRB1*04 allels were the same (12.5%).…”

Section: Discussionmentioning

confidence: 51%

“…This is compatible with the literature, in other words it can be said that the frequency of the most common allels in Turkish population is towards DQ2. In a study in Libya, it has been reported that DQ2/DQ8 genotype is more common than in European countries [18]. Especially the effect of DQB1*0201 is great.…”

Section: Discussionmentioning

confidence: 99%

HLA Typing and Histopathologic Features of Patients with Celiac Disease-A Retrospective Study

Ceylan¹,

Kayaçetin²

2016

Ann Clin Anal Med

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ÖzetAmaç: Çöliak Hastalığı, beslenme intoleransının en sık görülen defektlerinden birisidir. Glutene artmış bir duyarlılık vardır. Multifaktöriyel olarak kalı-tılmaktadır, bu yüzden çevresel ve genetik etkenler hastalığı değerlendirme-de önemlidir. Özellikle DQ2 ve DQ8'i kodlayan spesifik insan lökosit antijenlerinin varlığı, çöliak hastalığı tanısını koymada önemlidir. Bu çalışmada, kronik diyare, karın ağrısı ve benzeri semptomlarla gelen hastalarda çöliak hastalığı açısından insan lökosit antijeni allel dağılımını belirlemek amaçlanmış-tır. Gereç ve Yöntem: Laboratuarımıza başvuran 40 hastanın insan lökosit antijenleri prevalansı, polimeraz-zincir reaksiyonu-sekans spesifik primer metodu ile incelenmiştir. Hastaların Marsh sınıflandırmaları da, bir patolog tarafından değerlendirilmiştir. Bulgular: Hastaların %95'inde insan lökosit antijeni saptanmıştır. En sık görülenler, DQA1*0501 ve DQB1*0201, en az görülen ise DQA1*0501 ve DRB1*04 kombinasyonu idi. Marsh sınıflandırmasına göre Grade 2 Marsh Tip 4, hipoplastik tip en sık olarak saptandı. Tartışma: Çöliak hastalığının progresyonunda ve hastalığa yatkınlığın belirlenmesinde, insan lökosit antijenleri tiplendirmesi klinisyenler için yardımcı olacaktır. Anahtar KelimelerÇöliak Hastalığı; Histopatoloji; Marsh Sınıflandırması Abstract Aim: Celiac disease is the most common defect of nutrition intolerance. There is an increased sensitivity to the glutene. It is inherited multifactorial, because of this, genetic and enviromental factors are important in the evaluation. The existence of specific human leukocyte antigen alleles coding especially DQ2 and DQ8 are important at the diagnosis of celiac disease. In this study, it is aimed to determine human leukocyte antigens allel distribution for celiac disease in patients with chronic diarrhea, abdominal pain and similar symptomes. Material and Method: The prevalance of human leukocyte antigens of 40 patients applied to our laboratory were searched using polimerase chain reaction-sequence specific primer method. Marsh classification of the patients were also performed by a pathologist. Results: We determined human leukocyte antigens in 95% of the patients. The most common antigens were DQA1*0501 and DQB1*0201. The combination of DQA1*0501 and DRB1*04 was the least. According to Marsh classification, Grade 2 Marsh Type 4 hypoplastic was the most common type. Discussion: The human leukocyte antigen typing is helpful for the clinicians at the progression of the celiac disease and at the prediction of the tendency to the disease.

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HLA-DQ2 and -DQ8 genotypes in celiac and healthy Libyan children

Cited by 30 publications

References 13 publications

HLA-DQ typing in the diagnostic algorithm of celiac disease

HLA-DQ typing in the diagnostic algorithm of celiac disease

Prevalence of Genetic Susceptibility for Celiac Disease in Blood Donors in São Paulo, Brazil

HLA Typing and Histopathologic Features of Patients with Celiac Disease-A Retrospective Study

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