HLA-DQ and Susceptibility to Celiac Disease: Evidence for Gender Differences and Parent-of-Origin Effects

Megiorni, Francesca; Mora, Barbara; Bonamico, Margherita; Barbato, M.; Montuori, Monica; Viola, Franca; Trabace, S; Mazzilli, Maria Cristina

doi:10.1111/j.1572-0241.2007.01716.x

Cited by 83 publications

(65 citation statements)

References 27 publications

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“…Overall, CD is twice as frequent among females as c ompared to males, possibly bec ause the nec essary HLA haplotypes, DQ2/DQ8, are more frequent in female than in male CD patients (i.e. 94% vs 85%) [4] . In addition, CD may be detected more frequently in females because females tend to seek medical care more often than males, usually at a younger age.…”

Section: Epidemiologymentioning

confidence: 99%

“…In the elderly, the ratio of newly diagnosed males is equivalent to newly diagnosed females. In the few DQ2/DQ8 -negative CD patients, there is a male exc ess, and only inheritanc e of a paternal DQ2 haplotype leads to a daughter's predominanc e [4] . While it is estimated that CD affec ts up to 2% of Caucasians, the risk is higher in first-degree relatives of affec ted sibling pairs (17%), monozygotic twins (75%), and HLA-identic al siblings (40%).…”

Section: Epidemiologymentioning

confidence: 99%

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Recent advances in celiac disease

Freeman

Chopra²,

Clandinin³

et al. 2011

WJG

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Celiac disease now affects about one person in a hundred in Europe and North America. In this review, we consider a number of important and exciting recent developments, such as clinical associations, HLA-DQ2 and HLA-DQ8 predispositions, the concept of potential celiac disease, the use of new imaging/endoscopy techniques, and the development of refractory disease. This review will be of use to all internists, pediatricians and gastroenterologists.

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Section: Epidemiologymentioning

confidence: 99%

Section: Epidemiologymentioning

confidence: 99%

Recent advances in celiac disease

Freeman

Chopra²,

Clandinin³

et al. 2011

WJG

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“…While to carry the two copies of DQB1*0201 is associated with increased disease risk, it has no effect on the early age onset and diagnosis or on the estimation of the severity of the disease [19]. In the recent studies, it has been showed that female patients often carry DO2.5 and/or DQ8 molecules, but males are oftenly negative for DQ2.5/DQ8 [20]. In our study, the number of male patients is low, so we couldn't detect this finding.…”

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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“…Estos últi-mos cuatro por padecer condiciones no asociadas a EC se agruparon bajo la categoría "otros" (Ver Tabla 2). coincide con los estudios reportados en la literatura cuya edad media se reporta en 45 años (4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22) . A esto se suma el hecho de que la mujer tiende a utilizar más los servicios de salud por factores socioculturales.…”

Section: Fig 3 Distribución De Pacientes Según Hallazgos Histológicunclassified

“…Se observó también una prevalencia alta en los grupos de la población de más edad siendo que un 29% es mayor de 50 años y un 18.5% supera los 60 años lo cual es similar a los rangos encontrados en diversas publicaciones que reportan un rango de 19-34 % en dicha población (4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23) . Este fenómeno podría estar relacionado con el mayor conocimiento que existe en la población sobre la enfermedad; al retraso en el diagnóstico por la mayor frecuencia de presentaciones atípicas en este grupo etario, así como a la existencia de nuevos y mejores métodos diagnósticos.…”

Section: Fig 3 Distribución De Pacientes Según Hallazgos Histológicunclassified

Utilidad De Los Anticuerpos Antitransglutaminasa Tisular Y Su Relación Con Enfermedad Celíaca en Pacientes Del Hospital San Juan De Dios De Enero Del 2008 a Diciembre Del 2010

Brenes¹,

Sancho

2011

RC_UCR-HSJD

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Conclusiones: en cuanto a las variables epidemiológicas la EC se comporta de manera similar a lo descrito. No se encontró asociación con patologías clásicamente asociadas con la enfermedad. La validez de las pruebas anti-tTG en la población estudiada es mucho menor a la encontrada en la literatura. PALABRAS CLAVEAnticuerpos antitransglutaminasa tisular. Enfermedad celíaca. Clasificación de Marsh. ABSTRACTBackground: Celiac disease (CD) is a small intestine enteropathy that is caused by the ingestion of gluten protein in food. The main determinant found is the enzyme tissue transglutaminase, an enzyme of the small intestine. This study pretends to assess the validity of anti-tTG in patients admitted to HSJD with the diagnosis of CD, because the clinic experience suggests a fewer sensitivity as the report in literature. Methods:The population studied was patients twelve years or older with positive serology for anti-tTG and excluded patients receiving steroids or immunosuppressive therapy, patients with gastrointestinal surgery, HIV/AIDS or being on a gluten-free diet. We consider patients as having CD those with symptoms, classic pathological changes and/or a response to free-gluten diet. Age, ethnicity, gender and frequency of chronic diseases were documented; and also sensitivity, specificity, PPV and NPV for anti-tTG was measured. A distribution according Marsh histological classification was made. The presence of IgA deficiency was evaluated. Findings:We found CD was more frequent in women and older patients. The sensitivity and specificity found for anti-tTG IgA was 17% and 96%, whereas anti-tTG IgG was 14.2% and 100% respectively. The PPV and NPV were 75% and 100% in the case of IgA and 65% and 62.5% for IgG. Most of the histologic specimens were Marsh 3 or superior. IgA deficiency was not found. Interpretation:The epidemiologic features in CD were similar to those describe in literature. It was not found classic associated disorders to CD. The validity of anti-tTG for diagnosis of CD was lower as described.

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HLA-DQ and Susceptibility to Celiac Disease: Evidence for Gender Differences and Parent-of-Origin Effects

Cited by 83 publications

References 27 publications

Recent advances in celiac disease

Recent advances in celiac disease

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

Utilidad De Los Anticuerpos Antitransglutaminasa Tisular Y Su Relación Con Enfermedad Celíaca en Pacientes Del Hospital San Juan De Dios De Enero Del 2008 a Diciembre Del 2010

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