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Chi Pui Pang, Xiao Ying Liang, Li Jia Chen, Pancy O. Tam, Timothy Y. Lai; Association of LOC387715/HTRA1 with Exudative Age-related Macular Degeneration and Polypoidal Choroidal Vasculopathy. Invest. Ophthalmol. Vis. Sci. 2011;52(14):5258.
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The association of LOC387715/HTRA1 locus with age-related macular degeneration (AMD) has been investigated and reported, but not in another angiogenic ocular disease, polypoidal choroidal vasculopathy (PCV). This study aims to differentiate the associations of AMD and PCV with the genotypes in the LOC387715 and HTRA1 genes.
A total of 156 AMD patients, 164 PCV patients and 248 age-matched unrelated controls from Han Chinese origin were recruited. Whole gene sequence of LOC387715 and rs11200638 of HTRA1 were screened by polymerase chain reaction and direct sequencing.
Totally32 polymorphisms in LOC387715 were found. Significant association with both AMD and PCV was observed in 12 polymorphisms, which also showed differential genotype distributions between AMD and PCV. This was confirmed by the haplotype analysis. Moreover, TG haplotype of rs2736911 and rs10490924 was significantly associated with PCV (p = 0.006; odds ratio = 0.49, 95% confident intervals: 0.32 - 0.77), but not with AMD (p = 0.09). In addition, the association of rs10490924 with AMD (p = 0.011), but not with PCV (p = 0.077), remains significant even adjusted by rs11200638.
This study revealed that the LOC387715 and HTRA1 genes were associated with both AMD and PCV. However, the genotype information does not distinguish whether they belong to different types of angiogenic ocular diseases.
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