Association of LOC387715 A69S with vitreous hemorrhage in polypoidal choroidal vasculopathy.
OBJECTIVE
To investigate whether the LOC387715 polymorphism is associated with polypoidal choroidal vasculopathy (PCV) and with vitreous hemorrhage (VH), one of the most severe clinical phenotypes, in the Japanese population.


METHODS
Cross-sectional case-control association study.


METHODS
One hundred and nine Japanese patients with PCV, composed of nine patients associated with VH (VH group) and 100 patients without VH (non-VH group), and 85 control subjects were analyzed for the LOC387715 polymorphism (rs = 10490924), using denaturing high-performance chromatography.


RESULTS
There was a significant difference in the T allele frequency between PCV patients and control subjects (P < .0001). In comparison with wild-type homozygosity (GG), homozygosity for the at-risk allele genotype (TT) increased the likelihood for PCV 8.4-fold (3.6 to 19.5, 95% confidence interval [CI]) and heterozygosity for the at-risk allele genotype (TG) increased the likelihood for PCV 4.0-fold (1.9 to 8.4, 95% CI). There was a significant difference in the genotypic frequency at the LOC387715 site between the VH and non-VH groups (P = .0099, Chi-square test) with the TT genotype occurring in 88.9% in the VH group and 37.0% in the non-VH group. The frequency of the T allele in the VH group was significantly greater than that in the non-VH group (0.944 vs 0.610; P = .0039, Fisher exact test).


CONCLUSIONS
The LOC387715 polymorphism is associated with PCV and clinical severity in the subgroups of PCV in the Japanese population.
Sakurada
Yoichi
Y
Department of Ophthalmology, Faculty of Medicine, University of Yamanashi, Shimokato 1110, Chuo City, Yamanashi, Japan.
Kubota
Takeo
T
Mabuchi
Fumihiko
F
Imasawa
Mitsuhiro
M
Tanabe
Naohiko
N
Iijima
Hiroyuki
H
D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002829:Choroid / Q000098:blood supply*; D015862:Choroid Diseases / Q000175:diagnosis / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid; D003430:Cross-Sectional Studies; D005260:Female; D005451:Fluorescein Angiography; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D016491:Peripheral Vascular Diseases / Q000175:diagnosis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics*; D014823:Vitreous Hemorrhage / Q000235:genetics*
C514392:ARMS2 protein, human; D011506:Proteins