Association of a single-nucleotide polymorphism in the immunoglobulin μ-binding protein 2 gene with immunoglobulin A nephropathy


AbstractImmunoglobulin A (IgA) nephropathy is the most common form of primary glomerulonephritis worldwide. The pathogenesis of IgA nephropathy is unknown, but it is certain that some genetic factors are involved in susceptibility to the disease. Employing a large-scale, case-control association study using gene-based single-nucleotide polymorphism (SNP) markers, we previously reported four candidate genes. We report here an additional significant association between IgA nephropathy and an SNP located in the gene encoding immunoglobulin μ-binding protein 2 (IGHMBP2) at chromosome 11q13.2–q13.4. The association (χ2 = 17.1, p=0.00003; odds ratio of 1.85 with 95% confidence interval of 1.39–2.50 in a dominant association model) was found using DNA from 465 affected individuals and 634 controls. The SNP (G34448A) caused an amino acid substitution from glutamine to lysine (E928K). As the gene product is involved in immunoglobulin-class switching and patients with the A allele revealed higher serum levels of IgA (p=0.048), the amino acid change might influence a class switch to increase serum IgA levels, resulting in a higher risk of IgA nephropathy.

DOI: 10.1007/s10038-004-0214-8
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@article{Ohtsubo2005AssociationOA, title={Association of a single-nucleotide polymorphism in the immunoglobulin μ-binding protein 2 gene with immunoglobulin A nephropathy}, author={Shigeru Ohtsubo and Aritoshi Iida and Kosaku Nitta and Toshihiro Tanaka and Ryo Yamada and Yozo Ohnishi and Shiro Maeda and Tatsuhiko Tsunoda and Takashi Takei and Wataru Obara and Fumihiro Akiyama and Keisuke Ito and Kazuho Honda and Keiko Uchida and Ken Tsuchiya and Wako Yumura and T. Ujiie and Yutaka Nagane and Satoru Miyano and Yasushi A. Suzuki and Ichiei Narita and Fumitake Gejyo and Tomoaki Fujioka and Hiroshi Nihei and Yusuke Nakamura}, journal={Journal of Human Genetics}, year={2005}, volume={50}, pages={30-35} }