Nephrol Dial Transplant (2001) 16: 759-764
© 2001 European Renal Association-European Dialysis and Transplant Association
Polymorphisms in the promoter region and at codon 54 of the MBL2 gene are not associated with IgA nephropathy
1 Genetic Service, IRCCS Burlo Garofolo and ‘Dipartimento Scienze della Riproduzione e dello Sviluppo’, University, Trieste, 2 Department of Genetics, Biology and Biochemistry, University of Torino, Torino, 3 Multidisciplinary Center of Immunopathology (CMID), L. Einaudi Hospital, Torino, 4 Nephrology Department, University and Spedali Civili, Brescia, 5 Nephrology Department, Regina Margherita Children's Hospital, Torino, and 6 Nephrology Division, Ospedale Maggiore, Trieste, Italy
Background. IgA nephropathy (IgAN) occurs sporadically in unrelated individuals. Several different polymorphic genes have been investigated in recent years 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 natural immunity, 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 22 Italian patients with familial IgA nephropathy and in 138 Italian patients with the sporadic form 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.
Keywords: DNA; genetics; IgA nephropathy; MBL2; polymorphisms; susceptibility
Correspondence and offprint requests to: Prof. Antonio Amoroso, Servizio di Genetica, I.R.C.C.S. Burlo Garofolo, Via dell'Istria, 65/1, I-34137 Trieste, Italy.
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