Polymorphisms in Complement factor H and Hemicentin-1 genes in a Japanese population with dry-type age-related macular degeneration

被引：57

作者：

Fuse, Nobuo ^{[1
]}

Miyazawa, Akiko ^{[1
]}

Mengkegale, MingGe ^{[1
]}

Yoshida, Madoka ^{[1
]}

Wakusawa, Ryosuke ^{[1
]}

Abe, Toshiaki ^{[1
]}

Tamai, Makoto ^{[1
]}

机构：

[1] Tohoku Univ, Grad Sch Med, Dept Ophthalmol, Sendai, Miyagi 9808574, Japan

来源：

AMERICAN JOURNAL OF OPHTHALMOLOGY | 2006年 / 142卷 / 06期

关键词：

D O I：

10.1016/j.ajo.2006.07.030

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

PURPOSE: To determine whether polymorphisms in the Complement Factor H (CFH) gene and the Hemicentin-I 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 Tyr4021-fis 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.

引用

页码：1074 / 1076

页数：3

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