title: Genetic variant of C1GalT1 contributes to the susceptibility to IgA nephropathy.
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 beta1,3-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.
  
  
  CONCLUSIONS
  The 1365G allele and 1365G/G genotype seem to confer susceptibility to IgAN.
authors.affiliation: Genetics Service, IRCCS Burlo Garofolo and Department of Reproductive and Developmental Sciences, University of Trieste, Trieste, Italy.
authors.forename: Doroti
authors.initials: D
authors.lastname: Pirulli
authors.forename: Sergio
authors.initials: S
authors.lastname: Crovella
authors.forename: Sheila
authors.initials: S
authors.lastname: Ulivi
authors.forename: Cristina
authors.initials: C
authors.lastname: Zadro
authors.forename: Sara
authors.initials: S
authors.lastname: Bertok
authors.forename: Sabina
authors.initials: S
authors.lastname: Rendine
authors.forename: Francesco
authors.initials: F
authors.lastname: Scolari
authors.forename: Marina
authors.initials: M
authors.lastname: Foramitti
authors.forename: Pietro
authors.initials: P
authors.lastname: Ravani
authors.forename: Dario
authors.initials: D
authors.lastname: Roccatello
authors.forename: Silvana
authors.initials: S
authors.lastname: Savoldi
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Cerullo
authors.forename: Salvatore Giovanni
authors.initials: SG
authors.lastname: Lanzilotta
authors.forename: Luigi
authors.initials: L
authors.lastname: Bisceglia
authors.forename: Leopoldo
authors.initials: L
authors.lastname: Zelante
authors.forename: Jurgen
authors.initials: J
authors.lastname: Floege
authors.forename: Epstathios
authors.initials: E
authors.lastname: Alexopoulos
authors.forename: Dimitrios
authors.initials: D
authors.lastname: Kirmizis
authors.forename: Gian Marco
authors.initials: GM
authors.lastname: Ghiggeri
authors.forename: Giovanni
authors.initials: G
authors.lastname: Frascà
authors.forename: Francesco Paolo
authors.initials: FP
authors.lastname: Schena
authors.forename: Antonio
authors.initials: A
authors.lastname: Amoroso
mesh_terms: D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D005260:Female; D005700:Galactosyltransferases / Q000097:blood / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D005922:Glomerulonephritis, IGA / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D007070:Immunoglobulin A / Q000097:blood; D007558:Italy; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics
chemical_list: D007070:Immunoglobulin A; C505293:C1GALT1 protein, human; D005700:Galactosyltransferases