Author/Editor		Pirulli, D.; Bertok, Sara
Title		Genetic variant of C1GalT1 contributes to the susceptibility to IgA nephropathy
Type		članek
Vol. and No.		Letnik 22, št. 1
Publication year		2009
Volume		str. 152 - 159
ISSN		1121-8428 - Journal of nephrology
Language		eng
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 Ž1,3-galactosyltransferase (C1GalT1). To evaluate the association between C1GalT1 single nucleotide polymorphisms (SNPs) and IgAN, we performed a case control study on cohorts from the Italianpopulation. Methods: We sequenced C1GalT1 coding and promoter regions in 284 IgAN patients and 210 healthy controls. The functional role of 3¼ untranslated region (3¼UTR) 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 3¼UTR. The allele 1365G in the 3¼UTR was significantly more frequent in IgAN patientsthan in healthy controls. Conclusion: The 1365G allele and 1365G/G genotype seem to confer susceptibility to IgAN.