Serologic and Genetic Markers of Celiac Disease: A Sequential Study in the Screening of First Degree Relatives

Bonamico, Margherita; Ferri, M.; Mariani, P; Nenna, Raffaella; Thanasi, Enina; Luparia, R.P.L.; Picarelli, Antonio; Magliocca, Fabio Massimo; Mora, Barbara; Bardella, Maria Teresa; Verrienti, Antonella; Fiore, B; Uccini, Stefania; Megiorni, Francesca; Mazzilli, Maria Cristina; Tiberti, Claudio

doi:10.1097/01.mpg.0000189337.08139.83

Cited by 69 publications

(93 citation statements)

References 41 publications

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“…Moreover, CD developed exclusively in the presence of HLA-DQ2, -DQ8 or DQB1*02. Predisposing haplotype was present in 75.2% of first degree family members, consistent with incidence rates reported in the literature estimated from 63,5 to 83.1% (25). 24.8% of first degree relatives were negative for any at risk allele according to Chang et al (23) who found 20% of first degree family members could be excluded from followup by genetic testing.…”

Section: Discussionsupporting

confidence: 77%

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: Discussionsupporting

confidence: 77%

HLA-DQ typing in the diagnostic algorithm of celiac disease

Piccini

Vascotto

Serracca

et al. 2012

Rev. esp. enferm. dig.

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“…Based on the current evidence it is recommended to screen individuals who belong to groups at higher risk such as first-degree relatives of celiac patients and those affected by conditions associated with CD (type 1 diabetes mellitus, autoimmune thyroiditis, Down syndrome, Turner syndrome, Williams syndrome and selective IgA deficiency) (10) . A higher prevalence of CD among relatives of celiac patients has been demonstrated by several studies varying from 2.8% to 9.5% (1,3,5,7,9,15,16) . In order to clarify the current situation in Portugal, we conducted a study to determine the prevalence of CD in first degree relatives of a group of celiac Portuguese children.…”

Section: Introductionmentioning

confidence: 94%

Celiac disease in first degree relatives of celiac children

Oliveira

Trindade

Tavares

et al. 2012

Arq. Gastroenterol.

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-Context -The first degree relatives of celiac patients represent a high risk group for the development of this disorder, so their screening may be crucial in the prevention of long-term complications. Objective -In order to determine the prevalence of celiac disease in a group of first degree relatives of children with proven gluten intolerance, we conducted a prospective study that consisted in the screening of celiac disease, using a capillary immunoassay rapid test that allows a qualitative detection of IgA antibody to human recombinant tissue transglutaminase (IgA-TTG). Methods -When the screening test was positive subjects were advised to proceed with further investigation. The screening test was performed in 268 first degree relatives (143 mothers, 89 fathers, 36 siblings) corresponding to 163 children with celiac disease. Results -Screening test was positive in 12 relatives (4.5%), of which 1 refused to continue the investigation. In the remaining 11 relatives celiac disease was diagnosed in 7 cases (2.6%, 5 mothers, 2 fathers) who had a median age of 39 years (27-56 years), mild gastrointestinal symptoms, high titre of IgA-TTG and histology abnormalities confirming the diagnosis. All these patients are currently on a gluten-free diet. Conclusion -The prevalence of celiac disease among first degree relatives (2.6%) was 5 times higher than that in the general population. Although the recommendations for screening asymptomatic high risk groups, such as first degree relatives, are not unanimous the early diagnosis is crucial in preventing complications, including nutritional deficiency and cancer. HEADINGS -Celiac disease. Family. Child.

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“…Yapılan bir araştırmada, 15q26'da ve 11q'da çölyak ile ilişkili olabilecek lokuslar saptanmıştır. 90,91 Çölyak hastalığı multifaktöriyel ve poligenik bir hastalık gibi görünse de asıl sorumlu genetik yapı DQ2 ve DQ8'dir. Tip 1 diabet hastalarında artmış sıklıkta görülmektedir.…”

Section: üLseratif Kolitunclassified

Genetic Approach to Frequently Seen Pediatric Gastrointestinal System Diseases: Review

Ataman¹,

Erçal²

2016

Turkiye Klinikleri J Pediatr

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Serologic and Genetic Markers of Celiac Disease: A Sequential Study in the Screening of First Degree Relatives

Cited by 69 publications

References 41 publications

HLA-DQ typing in the diagnostic algorithm of celiac disease

HLA-DQ typing in the diagnostic algorithm of celiac disease

Celiac disease in first degree relatives of celiac children

Genetic Approach to Frequently Seen Pediatric Gastrointestinal System Diseases: Review

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