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 journalArticle

26 Citations (Scopus)

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

Fingerprint

Immunoglobulin A
Single Nucleotide Polymorphism
3' Untranslated Regions
Genetic Promoter Regions
Alleles
Galactosyltransferases
Electrophoretic Mobility Shift Assay
Glomerulonephritis
Case-Control Studies
Real-Time Polymerase Chain Reaction
Genotype
Carbohydrates
Inflammation
Serum
Population
Genes

Keywords

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

ASJC Scopus subject areas

  • Nephrology

Cite this

Pirulli, D., Crovella, S., Ulivi, S., Zadro, C., Bertok, S., Rendine, S., ... Amoroso, A. (2009). Genetic variant of C1GalT1 contributes to the susceptibility to IgA nephropathy. Journal of Nephrology, 22(1), 152-159.

Genetic variant of C1GalT1 contributes to the susceptibility to IgA nephropathy. / Pirulli, Doroti; Crovella, Sergio; Ulivi, Sheila; Zadro, Cristina; Bertok, Sara; Rendine, Sabina; Scolari, Francesco; Foramitti, Marina; Ravani, Pietro; Roccatello, Dario; Savoldi, Silvana; Cerullo, Giuseppina; Lanzilotta, Salvatore Giovanni; Bisceglia, Luigi; Zelante, Leopoldo; Floege, Jurgen; Alexopoulos, Epstathios; Kirmizis, Dimitrios; Ghiggeri, Gian Marco; Frascà, Giovanni; Schena, Francesco Paolo; Amoroso, Antonio.

In: Journal of Nephrology, Vol. 22, No. 1, 2009, p. 152-159.

Research output: Contribution to journalArticle

Pirulli, D, Crovella, S, Ulivi, S, Zadro, C, Bertok, S, Rendine, S, Scolari, F, Foramitti, M, Ravani, P, Roccatello, D, Savoldi, S, Cerullo, G, Lanzilotta, SG, Bisceglia, L, Zelante, L, Floege, J, Alexopoulos, E, Kirmizis, D, Ghiggeri, GM, Frascà, G, Schena, FP & Amoroso, A 2009, 'Genetic variant of C1GalT1 contributes to the susceptibility to IgA nephropathy', Journal of Nephrology, vol. 22, no. 1, pp. 152-159.
Pirulli, Doroti ; Crovella, Sergio ; Ulivi, Sheila ; Zadro, Cristina ; Bertok, Sara ; Rendine, Sabina ; Scolari, Francesco ; Foramitti, Marina ; Ravani, Pietro ; Roccatello, Dario ; Savoldi, Silvana ; Cerullo, Giuseppina ; Lanzilotta, Salvatore Giovanni ; Bisceglia, Luigi ; Zelante, Leopoldo ; Floege, Jurgen ; Alexopoulos, Epstathios ; Kirmizis, Dimitrios ; Ghiggeri, Gian Marco ; Frascà, Giovanni ; Schena, Francesco Paolo ; Amoroso, Antonio. / Genetic variant of C1GalT1 contributes to the susceptibility to IgA nephropathy. In: Journal of Nephrology. 2009 ; Vol. 22, No. 1. pp. 152-159.
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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.",
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AU - Pirulli, Doroti

AU - Crovella, Sergio

AU - Ulivi, Sheila

AU - Zadro, Cristina

AU - Bertok, Sara

AU - Rendine, Sabina

AU - Scolari, Francesco

AU - Foramitti, Marina

AU - Ravani, Pietro

AU - Roccatello, Dario

AU - Savoldi, Silvana

AU - Cerullo, Giuseppina

AU - Lanzilotta, Salvatore Giovanni

AU - Bisceglia, Luigi

AU - Zelante, Leopoldo

AU - Floege, Jurgen

AU - Alexopoulos, Epstathios

AU - Kirmizis, Dimitrios

AU - Ghiggeri, Gian Marco

AU - Frascà, Giovanni

AU - Schena, Francesco Paolo

AU - Amoroso, Antonio

PY - 2009

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N2 - 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.

AB - 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.

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