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Research: Gene copies and kidney disease

22 February 2006

An individual's susceptibility to the kidney disease glomerulonephritis depends on the number of copies of the Fcgr3 gene they possess.

While small variations in the sequence of a gene have long been associated with differences in gene function, it is only recently that the significance of gene copy-number variation has begun to be appreciated. A difference in the number of copies of a gene an individual carries has recently been associated with predisposition to disease.

Professor Timothy Aitman (Medical Research Council Clinical Sciences Centre and Imperial College London) and colleagues examined strains of rats that vary in their susceptibility to glomerulonephritis. They found that susceptible strains carry one copy of the Fcgr3 gene (which produces a protein involved in the inflammatory response) whereas resistant strains carry an additional copy. Copy number of the human FCGR3B gene was found to vary between zero and four, and individuals with glomerulonephritis tended to have fewer copies.

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