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. CONCLUSION: The 1365G allele and 1365G/G genotype seem to confer susceptibility to IgAN.
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 IgANpatients 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 IgANpatients 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 IgANpatients than in healthy controls. CONCLUSION: The 1365G allele and 1365G/G genotype seem to confer susceptibility to IgAN.
Authors: Grazia Serino; Fabio Sallustio; Sharon N Cox; Francesco Pesce; Francesco P Schena Journal: J Am Soc Nephrol Date: 2012-02-23 Impact factor: 10.121
Authors: Tongzhong Ju; Yingchun Wang; Rajindra P Aryal; Sylvain D Lehoux; Xiaokun Ding; Matthew R Kudelka; Christopher Cutler; Junwei Zeng; Jianmei Wang; Xiaodong Sun; Jamie Heimburg-Molinaro; David F Smith; Richard D Cummings Journal: Proteomics Clin Appl Date: 2013-09-09 Impact factor: 3.494
Authors: Daniel P Gale; Karen Molyneux; David Wimbury; Patricia Higgins; Adam P Levine; Ben Caplin; Anna Ferlin; Peiran Yin; Christopher P Nelson; Horia Stanescu; Nilesh J Samani; Robert Kleta; Xueqing Yu; Jonathan Barratt Journal: J Am Soc Nephrol Date: 2017-02-16 Impact factor: 10.121