Balkan Endemic Nephropathy Risk Associates to the hs1.2 Ig Enhancer Polymorphism
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Le résumé fourni par la source
Balkan Endemic Nephropathy (BEN) is a kidney degenerative disease with a high incidence in the valleys of the Danube and tributary rivers. Many studies describe it as a multifactorial disease. Environmental as well immuno-inflammatory and genetic cofactors have been suggested to trigger the onset of the disease. Recently, high levels of C-reactive protein were demonstrated in BEN patients. We performed this study to evaluate the possible correlation of BEN with the polymorphism of the Ig heavy chain 3'Regulatory Region enhancer hsl.2 that is related to changes of consensus for trans activators binding within the DNA sequence and probably consequently autoimmune and inflammatory diseases. Therefore, we studied three cohorts: 1) 111 control subjects, 2) 95 BEN patients in dialysis therapy and 3) 133 components of a large family “J” in the same geographical area. The allelic frequencies of hsl.2 of BEN patients and family “J” components had similar decrease frequency of allele *1 and increase of allele *2 in respect to the controls. This trend suggests the association of allele *1 as a protective and allele *2 as a risk component for the disease. The presence of a consensus sequence for NF-Kb in the allele *2 may link the polymorphism to the inflammatory activity of BEN. This study supports the presence of an inflammatory pathway in BEN through the involvement of polymorphic enhancer hsl.2 influencing differently binding complexes and consequently the 3D structure of 3' Regulatory Region of IgH. Our work is the first study that clearly links BEN to a gene involved in the regulation of immune response.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Balkan Endemic Nephropathy Risk Associates to the hs1.2 Ig Enhancer Polymorphism
- Date Crossref
- 01/09/2012
- Éditeur
- SAGE Publications
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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University of Rome Tor Vergata pays non établi dans la noticeUniversité ou école supérieure
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Università Cattolica del Sacro Cuore pays non établi dans la noticeUniversité ou école supérieure
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University of Bari Aldo Moro Department of Biology pays non établi dans la noticeUniversité ou école supérieure
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BC Cancer Agency pays non établi dans la noticeÉtablissement de santé
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University of Nis Clinic for Nephrology pays non établi dans la noticeUniversité ou école supérieure
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University of Roma Tor Vergata Department of Biology “Enrico Calef” pays non établi dans la noticeUniversité ou école supérieure
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Catholic University of Sacred Heart Institute of Internal Medicine pays non établi dans la noticeUniversité ou école supérieure
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Terry Fox Laboratory pays non établi dans la noticeStructure de recherche
University of Rome Tor Vergata, Università Cattolica del Sacro Cuore et Department of Biology — University of Bari Aldo Moro, avec 5 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.