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 language | English |
|---|---|
| Pages (from-to) | 152-159 |
| Number of pages | 8 |
| Journal | Journal of Nephrology |
| Volume | 22 |
| Issue number | 1 |
| Publication status | Published - 2009 |
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Keywords
- C1Ga/T1
- Genetic association
- IgA nephropathy
- Polymorphisms
ASJC Scopus subject areas
- Nephrology
Cite this
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 journal › Article
}
TY - JOUR
T1 - Genetic variant of C1GalT1 contributes to the susceptibility to IgA nephropathy
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
Y1 - 2009
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.
KW - C1Ga/T1
KW - Genetic association
KW - IgA nephropathy
KW - Polymorphisms
UR - http://www.scopus.com/inward/record.url?scp=66349083640&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=66349083640&partnerID=8YFLogxK
M3 - Article
C2 - 19229831
AN - SCOPUS:66349083640
VL - 22
SP - 152
EP - 159
JO - Journal of Nephrology
JF - Journal of Nephrology
SN - 1121-8428
IS - 1
ER -