Polymorphism in promoter region of Fc! receptor gene in patients with IgA nephropathy

We have recently identified two novel polymorphisms (-114T/C and +56T/C relative to the major transcription start site) in the functional promoter region of the Fc! receptor (Fc!R) gene. Since altered Fc!R expression may be associated with IgA nephropathy, we examined these promoter polymorphisms in...

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Veröffentlicht in:Human genetics 2001-03, Vol.108 (2), p.128-133
Hauptverfasser: Tsuge, Toshinao, Shimokawa, Toshibumi, Horikoshi, Satoshi, Tomino, Yasuhiko, Ra, Chisei
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Sprache:eng
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Zusammenfassung:We have recently identified two novel polymorphisms (-114T/C and +56T/C relative to the major transcription start site) in the functional promoter region of the Fc! receptor (Fc!R) gene. Since altered Fc!R expression may be associated with IgA nephropathy, we examined these promoter polymorphisms in this disease. Patients with IgA nephropathy (n=90), patients with other primary glomerulonephritis (n=50), and healthy adults (n=83) were studied. Genotyping was performed by the polymerase chain reaction (PCR) followed by direct sequence analysis and was subsequently confirmed by PCR with mismatched primers followed by restriction fragment length polymorphism analysis. The study demonstrated that the frequency of the +56C allele in patients with IgA nephropathy (0.511) was significantly (P
ISSN:0340-6717
DOI:10.1007/s004390100458