This web page was produced as an assignment for Gen677 at UW-Madison Spring 2010.

Scientific Article: Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration

           
This scientific article published in Science on April 15, 2005 begins as all scientific publications do, with a background of the research and what is known in the field.  For this article this includes an overview of AMD and the known genetic contributors.  The article continues on into and explanation of the methods and results of the experiment.  It was known that there were gene(s) on chromosome 1q32 that were associated with the risk of developing AMD.  To determine the AMD risk gene(s), they genotyped single nucleotide polymorphisms (SNPs).  Genes identified included CFH and five CFH related genes.  Next, to find the sequence variants that increased the risk of AMD, they sequenced 24 cases with AMD and 24 controls without AMD.  The most frequent variant identified was T1277C; protein: Y402H (1).

The article was very clear and concise in its description of what was known, the biological significance, and the experiments performed.  Additionally, the explanation of how the CFH protein could affect development of AMD was very valuable.  A more detailed background and better discussion of the next steps to be taken in future research would have been beneficial.

1. Haines, J. L., M. A. Hauser, S. Schmidt, W. K. Scott, L. M. Olson, P. Gallins, K. L. Spencer, S. Y. Kwan, M. Noureddine, J. R. Gilbert, N. Schnetz-Boutaud, A. Agarwal, E. A. Postel, and M. A. Pericak-Vance. 2005. Complement Factor H Variant Increases the Risk of Age-Related Macular Degeneration. Science. 308:419-421.

Rebecca Bauer
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last updated 5/17/2010 
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