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Dong Ho Park, In Taek Kim; Association of LOC387715/HTRA1 Variants with Phenotypes in Polypoidal Choroidal Vasculopathy in a Korean Population. Invest. Ophthalmol. Vis. Sci. 2011;52(14):5223.
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To investigate whether variants in the LOC387715 and the HTRA1 gene within the 10q26 locus are associated with polypoidal choroidal vasculopathy (PCV) in a Korean population and whether they are associated with phenotypes of PCV.
This is a case-control study comprised of 103 patients with PCV and 112 control subjects. The PCV and control groups were genotyped for LOC387715 (rs10490924) and HTRA1 gene (rs11200638) polymorphism using real-time polymerase chain reaction. Clinical characteristics were evaluated including best-corrected visual acuity (BCVA), fundus findings, and angiographic findings including fluorescein angiography (FA) and indocyanine green angiography (ICGA) at first visit. Main outcome measures were the genotypes ofLOC387715/HTRA1 variants and the association with the phenotypes.
Two single nucleotide polymorphisms generated highly significant allelic associations with PCV (rs10490924, p=3.2x10-13; rs11200638, p=1.3x10-12). The TT genotype group in rs10490924 had a 14.29-fold increased risk (p=8.2x10-10; 95% confidence interval [CI], 6.12-33.39) and AA genotype group in rs11200638 had a 13.88-fold increased risk of PCV (p=8.8x10-11; 95% CI, 5.91-32.62) compared to GG genotype groups, respectively. Frequency of vitreous hemorrhage (VH) was different among 3 genotypes in both rs10490924 and rs11200638 (p=0.021 and 0.026, respectively). The frequency of the T allele of rs10490924 in PCV with VH was higher than PCV without VH (p=0.005, OR 10.69, 95% CI, 1.40-81.70). The frequency of the A allele of rs11200638 in PCV with VH was higher than PCV without VH (p=0.009, OR 9.73, 95% CI, 1.27-74.37). The TT genotype in rs10490924 and AA genotype in rs11200638 showed increased risk of occult type compared to GG genotypes (p=0.001, OR 13.70, 95% CI, 2.92-64.35 and p=0.001, OR 11.43, 95% CI, 2.23-58.70, respectively). In rs10490924, mean BCVA of GG genotype group was better than that of TT and TG genotype groups (p=0.001, respectively). In rs11200638, mean BCVA of GG genotype group was better than that of AA and AG genotype groups (p=0.001 and 0.002, respectively).
The LOC387715/HTRA1 variants are significantly associated with the risk of PCV in a Korean population. LOC387715/HTRA1 variantscontribute significantly to the PCV phenotypes including frequency of VH, subtypes in angiographic classification, and mean BCVA at baseline.
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