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

Abstract:

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.

journal_name

Am J Ophthalmol

authors

Fuse N,Miyazawa A,Mengkegale M,Yoshida M,Wakusawa R,Abe T,Tamai M

doi

10.1016/j.ajo.2006.07.030

subject

Has Abstract

pub_date

2006-12-01 00:00:00

pages

1074-6

issue

6

eissn

0002-9394

issn

1879-1891

pii

S0002-9394(06)00870-1

journal_volume

142

pub_type

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