TY - JOUR
T1 - Polymorphisms in Complement Factor H and Hemicentin-1 Genes in a Japanese Population With Dry-type Age-related Macular Degeneration
AU - Fuse, Nobuo
AU - Miyazawa, Akiko
AU - Mengkegale, Ming Ge
AU - Yoshida, Madoka
AU - Wakusawa, Ryosuke
AU - Abe, Toshiaki
AU - Tamai, Makoto
PY - 2006/12
Y1 - 2006/12
N2 - 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.
AB - 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.
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U2 - 10.1016/j.ajo.2006.07.030
DO - 10.1016/j.ajo.2006.07.030
M3 - Article
C2 - 17157600
AN - SCOPUS:33845201438
SN - 0002-9394
VL - 142
SP - 1074
EP - 1076
JO - American Journal of Ophthalmology
JF - American Journal of Ophthalmology
IS - 6
ER -