Genetic variant of C1GalT1 contributes to the susceptibility to IgA nephropathy

Doroti Pirulli, Sergio Crovella, Sheila Ulivi, Cristina Zadro, Sara Bertok, Sabina Rendine, Francesco Scolari, Marina Foramitti, Pietro Ravani, Dario Roccatello, Silvana Savoldi, Giuseppina Cerullo, Salvatore Giovanni Lanzilotta, Luigi Bisceglia, Leopoldo Zelante, Jurgen Floege, Epstathios Alexopoulos, Dimitrios Kirmizis, Gian Marco Ghiggeri, Giovanni FrascàFrancesco Paolo Schena, Antonio Amoroso

Research output: Contribution to journalArticlepeer-review

Abstract

Background: IgA nephropathy (IgAN) is a common form of primary glomerulonephritis characterized by diffuse glomerular mesangial IgA1 deposition that leads to mesangial proliferation and chronic glomerular inflammation. Analyses of serum IgA1 from IgAN patients revealed an abnormal galactosylation of the O-linked carbohydrate moieties of IgA that may be a result of altered activity of core 1 β1,3-galactosyltransferase (C1GalT1). To evaluate the association between C1GalT1 single nucleotide polymorphisms (SNPs) and IgAN, we performed a case control study on cohorts from the Italian population. Methods: We sequenced C1GalT1 coding and promoter regions in 284 IgAN patients and 210 healthy controls. The functional role of 3′ untranslated region (3′UTR) SNPs was studied using electrophoretic mobility shift assays and real-time quantitative PCR. Results: We analyzed 8 SNPs in the C1GalT1 gene: 5 SNPs were in the promoter region and 3 SNPs in the 3′UTR. The allele 1365G in the 3′UTR was significantly more frequent in IgAN patients than in healthy controls. Conclusion: The 1365G allele and 1365G/G genotype seem to confer susceptibility to IgAN.

Original languageEnglish
Pages (from-to)152-159
Number of pages8
JournalJournal of Nephrology
Volume22
Issue number1
Publication statusPublished - 2009

Keywords

  • C1Ga/T1
  • Genetic association
  • IgA nephropathy
  • Polymorphisms

ASJC Scopus subject areas

  • Nephrology

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