LOC387715/HTRA1 Variant in Polypoidal Choroidal Vaculopathy and Age-related Macular Degeneration in a Japanee Population Original Reearch Article

Purpoe To invetigate whether variant in the LOC387715 locu and the HtrA erine peptidae 1 (HTRA1) gene within the 10q26 locu are aociated with polypoidal choroidal vaculopathy (PCV) and wet age-related macular degeneration (AMD) in a Japanee population, and whether genetic diverity exit between PCV and wet AMD in thi locu. Deign Cro-ectional tudy. Method We genotyped 243 Japanee individual, including 76 PCV cae, 73 wet AMD cae, and 94 control uing two ingle nucleotide polymorphim (NP) that are located in the LOC387715 locu (r10490924) or the HTRA1 gene (r11200638). Genotyping wa performed uing TaqMan aay (Applied Bioytem, Foter City, California, UA). Reult Two NP generated highly ignificant allelic aociation with PCV (r10490924, P = 5.7 × 10−6; r11200638, P = 5.2 × 10−6) and AMD (r10490924, P = 1.4 × 10−6; r11200638, P = 3.4 × 10−7). The odd ratio and population attributable rik were higher for the AMD cae than for the PCV cae. Homozygote for the rik allele at r11200638 had a 6.33-fold increaed rik of PCV and a 13.77-fold increaed rik of wet AMD when compared with homozygote for the wild-type allele. There were no ignificant difference in either allelic or genotypic frequencie between PCV and AMD cae. Concluion The LOC387715/HTRA1 variant are aociated with PCV and wet AMD in the Japanee population. The aociation are tronger in AMD than in PCV. PCV and AMD hare common genetic factor, which ugget that PCV and wet AMD are imilar in ome pathophyiologic apect.