Coeliac disease in identical twins.

Penna, F J; Mota, Jaciane; Roquete, Mariza Leitão Valadares; Carvalho, Alex de; Lemos, A T de Oliveira; Leão, Eliseth Ribeiro; Ferreira, Rondinele Alberto dos Reis; Castro, Luiz Fernando Andrade de

doi:10.1136/adc.54.5.395

Cited by 10 publications

(6 citation statements)

References 7 publications

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“…The concordance of gluten sensitivity in monozygous twins has been suggested to be even 60±80%, which is high for a multifactorial disease. For example, the concordance in type I diabetes is only < 40% (Cordell and Todd, 1995); however, the ®gures in CD and DH are based on a collection of sporadic cases (Marks et al, 1971;Walker-Smith, 1973;Penna et al, 1979;Jepsen and Ullman, 1980;Manuscript received June 27, 2000;revised September 14, 2000;accepted for publication September 18, 2000. Reprint requests to: Dr. Jukka Partanen, Finnish Red Cross Blood Transfusion Service, Kivihaantie 7, 00310 Helsinki, Finland. Email: jukka.partanen@bts.redcross.® 1 KH and KK made an equal contribution to this study.…”

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confidence: 99%

Concordance of Dermatitis Herpetiformis and Celiac Disease in Monozygous Twins

Hervonen

Karell

Holopainen

et al. 2000

Journal of Investigative Dermatology

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Celiac disease can be defined as the classical manifestation of gluten sensitivity, which primarily affects the small intestine. Gluten sensitivity has also a skin manifestation, i.e., dermatitis herpetiformis. Both diseases have a strong genetic association with HLA DQ on chromosome 6. In this study we tried to estimate how much different clinical expressions of gluten sensitivity are determined by genetic factors, and hence how feasible they are for genetic mapping; therefore, we studied all six monozygous twin pairs found among 1292 prospectively collected patients of dermatitis herpetiformis in Finland. Three of the six twin pairs were concordant for dermatitis herpetiformis and for simultaneous enteropathy, celiac disease. Two other twin pairs were partially discordant, one of each pair had dermatitis herpetiformis and celiac disease, whereas the other had solely the gut manifestation of gluten sensitivity, i.e., celiac disease. Only one pair was found to be discordant for gluten sensitivity. All the pairs had typical risk alleles for gluten sensitivity, i.e., either HLA DQ2 or DQ8. These results demonstrate that the genetic component in gluten sensitivity as broadly defined is very strong (5/6 concordant). Genetically identical individuals can have clearly distinguished phenotypes, either dermatitis herpetiformis or celiac disease, suggesting that environmental factors determine the exact phenotype of this multifactorial disease. These findings are of importance in genetic linkage analyses, which focus to only certain phenotypic properties of a complex trait.

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confidence: 99%

Concordance of Dermatitis Herpetiformis and Celiac Disease in Monozygous Twins

Hervonen

Karell

Holopainen

et al. 2000

Journal of Investigative Dermatology

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“…Dos 18, apenas 7 foram submetidos a biopsia jejunal, tendo um deles apresentado alterações histológicas compatíveis com a doença. No serviço onde foi realizado o presente estudo, Penna et al (17) em 1979, relataram caso de um par de gêmeos, monozigóticos, concordantes para a DC. Estes pacientes são acompanhados até o momento, sendo que um deles segue dieta isenta de glúten e o outro fez dieta até a idade de 10 anos.…”

Section: Discussionunclassified

Discordância de apresentação da doença celíaca em gêmeos monozigóticos

Bahia

Penna

Castillo³

et al. 2010

Arq. Gastroenterol.

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“…One or both of 11 pairs of twins have been reported as having CD (Hoffman, Wollaeger and Greenberg, 1966;Walker-Smith, 1973;Lewkonia, Gairdner and Doe, 1976;Penna et al, 1979). Four of these were discordant, and 7 were concordant for the disease.…”

Section: Discussionmentioning

confidence: 99%