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3. Search for genetic association between IgA nephropathy and candidate genes selected by function or by gene mapping at loci IGAN2 and IGAN3

Author

Bertinetto, Francesca, Calafell, F, Roggero, S, Chidichimo, R, Garino, E, Marcuccio, C, Coppo, R, Scolari, F, Frascá, Gm, Savoldi, S, Schena, Fp, Amoroso, Antonio, on behalf of the European IgA Nephropathy Consortium, Università di Torino, and Regione Piemonte

Subjects
Adult, Male, Candidate gene, Adolescent, Genotype, Genetic Linkage, Population, Single-nucleotide polymorphism, Biology, urologic and male genital diseases, Polymorphism, Single Nucleotide, Young Adult, Genetic linkage, Genetic predisposition, Genetics, association study, C1GALT1, genetics, IgA nephropathy, polymorphisms, Humans, Genetic Predisposition to Disease, Allele, Child, education, Aged, Retrospective Studies, Genetic association, Transplantation, education.field_of_study, Chromosome Mapping, Infant, Glomerulonephritis, IGA, Middle Aged, Prognosis, Survival Rate, Association study, Proteinuria, Nephrology, Case-Control Studies, Child, Preschool, Female, Polymorphisms, Biomarkers
Abstract

Bertinetto, Francesca Eleonora et al.-- European IgA Nephropathy Consortium, [Background] IgA nephropathy (IgAN) is not generally considered a hereditary disease, even though extensive evidence suggests an undefined genetic influence. Linkage analysis identified a number of genome regions that could contain variations linked to IgAN., [Methods] In this case-control association study, genes possibly involved in the development of IgAN were investigated. DNA samples from 460 North Italian patients with IgAN and 444 controls were collected. Candidate genes were selected based on their possible functional involvement (6 genes) or because of their location within linkage-identified genomic regions IGAN2 and IGAN3 (5 and 13 genes within chromosome 4q26-31 and 17q12-22, respectively). One hundred and ninety-two tag and functional single-nucleotide polymorphisms (SNPs) were typed with Veracode GoldenGate technology (Illumina)., [Results] C1GALT1 showed an association with IgAN (rs1008898: P = 0.0019 and rs7790522: P = 0.0049). Associations were found when the population was stratified by gender (C1GALT1, CD300LG, GRN, ITGA2B, ITGB3 in males and C1GALT1, TRPC3, B4GALNT2 in females) and by age (TLR4, ITGB3 in patients aged, [Conclusions] Age and gender are likely to evidence distinct immunological and inflammatory reactions leading to individual susceptibility to IgAN. Overall, a genetic predisposition to sporadic IgAN was found. We might hypothesize that C1GALT1 and TLR4 polymorphisms influence the risk to develop IgAN and proteinuria, respectively. © 2012 The Author., This study was supported by a Ph.D. research fellowship from the University of Turin and a health research project funding by Regione Piemonte.

Published
2012

5. Role of genetic polymorphisms in the pathogenesis of IgAN

Author

Bertinetto, Francesca, Calafell, F., Chidichimo, R., Garino, Elena, Coppo, R., Scolari, F., Frascá, G., Savoldi, S., Schena, F. P., Marcuccio, C., Matullo, Giuseppe, Roggero, S., and Amoroso, Antonio

Published
2009

6. Search for genetic association between IgA nephropathy and candidate genes selected by function or by gene mapping at loci IGAN2 and IGAN3.

Author

Bertinetto FE, Calafell F, Roggero S, Chidichimo R, Garino E, Marcuccio C, Coppo R, Scolari F, Frascá GM, Savoldi S, Schena FP, and Amoroso A

Subjects
Adolescent, Adult, Aged, Case-Control Studies, Child, Child, Preschool, Female, Genetic Linkage, Genotype, Glomerulonephritis, IGA pathology, Humans, Infant, Male, Middle Aged, Prognosis, Proteinuria pathology, Retrospective Studies, Survival Rate, Young Adult, Biomarkers analysis, Chromosome Mapping, Genetic Predisposition to Disease, Glomerulonephritis, IGA genetics, Polymorphism, Single Nucleotide genetics, Proteinuria genetics
Abstract

Background: IgA nephropathy (IgAN) is not generally considered a hereditary disease, even though extensive evidence suggests an undefined genetic influence. Linkage analysis identified a number of genome regions that could contain variations linked to IgAN., Methods: In this case-control association study, genes possibly involved in the development of IgAN were investigated. DNA samples from 460 North Italian patients with IgAN and 444 controls were collected. Candidate genes were selected based on their possible functional involvement (6 genes) or because of their location within linkage-identified genomic regions IGAN2 and IGAN3 (5 and 13 genes within chromosome 4q26-31 and 17q12-22, respectively). One hundred and ninety-two tag and functional single-nucleotide polymorphisms (SNPs) were typed with Veracode GoldenGate technology (Illumina)., Results: C1GALT1 showed an association with IgAN (rs1008898: P = 0.0019 and rs7790522: P = 0.0049). Associations were found when the population was stratified by gender (C1GALT1, CD300LG, GRN, ITGA2B, ITGB3 in males and C1GALT1, TRPC3, B4GALNT2 in females) and by age (TLR4, ITGB3 in patients aged <27 years). Furthermore, rs7873784 in TLR4 showed an association with proteinuria (G allele: P = 0.0091; GG genotype: P = 0.0077)., Conclusions: Age and gender are likely to evidence distinct immunological and inflammatory reactions leading to individual susceptibility to IgAN. Overall, a genetic predisposition to sporadic IgAN was found. We might hypothesize that C1GALT1 and TLR4 polymorphisms influence the risk to develop IgAN and proteinuria, respectively.

Published
2012
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