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Titolo:
Polymorphisms in the promoter region and at codon 54 of the MBL2 gene are not associated with IgA nephropathy
Autore:
Pirulli, D; Boniotto, M; Vatta, L; Crovella, S; Spano, A; Morgutti, M; Zezlina, S; Bertola, L; Roccatello, D; Scolari, F; Peruzzi, L; Savoldi, S; Amoroso, A;
Indirizzi:
IRCCS Burlo Garofolo, Serv Genet, I-34137 Trieste, Italy IRCCS Burlo Garofolo Trieste Italy I-34137 Genet, I-34137 Trieste, Italy Univ Trieste, Dipartimento Sci Riprod & Sviluppo, Trieste, Italy Univ Trieste Trieste Italy imento Sci Riprod & Sviluppo, Trieste, Italy Univ Turin, Dept Genet Biol & Biochem, Turin, Italy Univ Turin Turin Italy v Turin, Dept Genet Biol & Biochem, Turin, Italy L Einaudi Hosp, Multidisciplinary Ctr Immunopathol, Turin, Italy L EinaudiHosp Turin Italy idisciplinary Ctr Immunopathol, Turin, Italy Univ Brescia, Dept Nephrol, Brescia, Italy Univ Brescia Brescia ItalyUniv Brescia, Dept Nephrol, Brescia, Italy Spedali Civili, I-25125 Brescia, Italy Spedali Civili Brescia Italy I-25125 dali Civili, I-25125 Brescia, Italy Regina Margherita Childrens Hosp, Dept Nephrol, Turin, Italy Regina Margherita Childrens Hosp Turin Italy Dept Nephrol, Turin, Italy Osped Maggiore, Div Nephrol, Trieste, Italy Osped Maggiore Trieste Italy sped Maggiore, Div Nephrol, Trieste, Italy
Titolo Testata:
NEPHROLOGY DIALYSIS TRANSPLANTATION
fascicolo: 4, volume: 16, anno: 2001,
pagine: 759 - 764
SICI:
0931-0509(200104)16:4<759:PITPRA>2.0.ZU;2-D
Fonte:
ISI
Lingua:
ENG
Soggetto:
MANNOSE-BINDING LECTIN; COMPLEMENT ACTIVATION; GLOMERULAR DEPOSITION; PROTEIN; GLOMERULONEPHRITIS; ANTIGEN; MECHANISM; DISEASE;
Keywords:
DNA; genetics; TgA nephropathy; MBL2; polymorphisms; susceptibility;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
31
Recensione:
Indirizzi per estratti:
Indirizzo: Amoroso, A IRCCS Burlo Garofolo, Serv Genet, Via Istria 65-1, I-34137 Trieste, Italy IRCCS Burlo Garofolo Via Istria 65-1 Trieste Italy I-34137 aly
Citazione:
D. Pirulli et al., "Polymorphisms in the promoter region and at codon 54 of the MBL2 gene are not associated with IgA nephropathy", NEPH DIAL T, 16(4), 2001, pp. 759-764

Abstract

Background. IgA nephropathy (IgAN) occurs sporadically in unrelated individuals. Several different polymorphic genes have been investigated in recentyears in order to demonstrate their possible association with IgAN. Three recent, different studies with conflicting conclusions have discussed the role of the mannose binding lectin (MBL), a serum lectin involved in naturalimmunity, in the IgAN pathogenesis by examination of MBL deposits in biopsies. In the present study we investigated several polymorphisms of the MBL gene located in the promoter region and in the first exon. Methods. MBL polymorphism detection was performed in 12. Italian patients with familial IgA nephropathy and in 138 Italian patients with the sporadicform of the disease. The polymorphisms in the MBL2 promoter region and in the exon 1 were investigated, respectively, by direct sequencing and by amplification refractory mutation system-polymerase chain reaction on genomic DNA collected from peripheral blood. Seventy-four unrelated healthy subjects matched for ethnic origin were used as controls. Results. Allelic and genotypic frequencies of the polymorphisms at position -550, -328, -221 and at codon 54 did not show any differences between patients and controls. Similar frequency distributions of these polymorphisms were also found in the subgroups of IgAN patients subdivided according to the clinical manifestations and the progression of the disease. Conclusions. This study indicates that the analysed polymorphisms of the MBL gene do not appear to be primarily involved in the susceptibility and severity of IgAN.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 12/12/17 alle ore 03:18:38