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


METHODS
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.


CONCLUSIONS
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.
Fuse
Nobuo
N
Department of Ophthalmology, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan. fusen@oph.med.tohoku.ac.jp
Miyazawa
Akiko
A
Mengkegale
Mingge
M
Yoshida
Madoka
M
Wakusawa
Ryosuke
R
Abe
Toshiaki
T
Tamai
Makoto
M
D000368:Aged; D044466:Asian People / Q000235:genetics; D017242:Complement Factor H / Q000235:genetics; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D006801:Humans; D007136:Immunoglobulins; D007564:Japan / Q000453:epidemiology; D008268:Macular Degeneration / Q000235:genetics*; D008297:Male; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide
C493495:CFH protein, human; D016326:Extracellular Matrix Proteins; C488168:HMCN1 protein, human; D007136:Immunoglobulins; D017242:Complement Factor H