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Fuse, N. et al.

Fuse, Miyazawa, Mengkegale, Yoshida, Wakusawa, Abe, Tamai,

Polymorphisms in Complement Factor H and Hemicentin-1 Genes in a Japanese Population With Dry-type Age-related Macular Degeneration.

PURPOSE: To determine whether polymorphisms in the Complement Factor H (CFH) gene and the Hemicentin-1 gene at the ARMD1 locus are associated with dry age-related macular degeneration (AMD) in Japanese patients. DESIGN: Clinically relevant laboratory investigation. METHODS: Eighty unrelated Japanese patients with dry AMD and 196 Japanese control patients were studied. Two exons of the CFH gene and four exons of the Hemicentin-1 gene were amplified by polymerase chain reaction and sequenced directly. RESULTS: For the CFH gene, the frequency of the previously reported Tyr402His variant was not significantly higher in the AMD group than in the control group (P = .31). In the Hemicentin-1 gene, three sequence alterations (Asp5088Val, IVS99-13C/T, and His5245Gln) were detected, and the originally reported Gln5346Arg was not detected. CONCLUSION: The CFH gene and Hemicentin-1 genes do not appear to be involved in a statistically significant fraction of dry AMD cases in the Japanese population.[1]

References

Polymorphisms in Complement Factor H and Hemicentin-1 Genes in a Japanese Population With Dry-type Age-related Macular Degeneration. Fuse, N., Miyazawa, A., Mengkegale, M., Yoshida, M., Wakusawa, R., Abe, T., Tamai, M. Am. J. Ophthalmol. (2006) [Pubmed]

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