Association of the HTRA1 gene variant with age-related macular degeneration in the Japanese population

Abstract

The purpose of this investigation was to determine whether the high-temperature requirement A-1 (HTRA1) gene polymorphism is associated with age-related macular degeneration (AMD) in native, unrelated Japanese patients. A total of 123 patients with AMD and 133 control subjects without AMD were recruited for this study. The single-nucleotide polymorphism (SNP) rs11200638 in the HTRA1 gene was assessed using a TaqMan assay. The risk A allele frequencies in the AMD cases and control patients were 0.577 and 0.380, respectively, and were associated with a significant risk of developing AMD (p=7.75·10 -6 ). The results were more significant in subtype analyses with wet AMD (p=5.96·10 -7 ). We conclude that the rs11200638 variant in the HTRA1 gene is strongly associated with AMD in the Japanese population. This result supports the hypothesis that the HTRA1 gene may increase susceptibility to AMD development and can participate in a potential new molecular pathway for AMD pathogenesis by extending this association across diverse ethnicities.

Photodynamic therapy with verteporfin for age-related macular degeneration or polypoidal choroidal vasculopathy: comparison of the presence of serous retinal pigment epithelial detachment

“…Recently, HTRA1 also has been reported to occur with the same frequency among Japanese patients with AMD,20 and there was no significant difference between PCV and typical exudative AMD 21. Thus, PCV and typical AMD are similar in some pathophysiological aspects.…”

Haplotype analysis of the ARMS2/HTRA1 region in Japanese patients with typical neovascular age-related macular degeneration or polypoidal choroidal vasculopathy

“…However, other studies targeting 10q26 for typical nAMD or PCV in Asian populations showed that differences between the sexes are present. 4,20,22,23,25,27,35,36 In addition, all of these studies reported that the association of 10q26 is real even after correction for sex. However, future studies of Asian populations in which sex differences are eliminated are needed to determine the genetic contribution of 10q26 to typical nAMD and PCV.…”

“…We also added rs11200638, which has been shown to have a strong association with typical nAMD and PCV, to the selected 18 SNPs for genotyping. 20,[22][23][24][25]27,28 All of the SNPs 10q26 HAPLOTYPES IN JAPANESE WITH NEOVASCULAR AMD were genotyped using the Taqman SNP genotyping assay (Applied Biosystems, Foster City, CA, USA).…”

Combined cases of polypoidal choroidal vasculopathy and typical age-related macular degeneration

“…In addition, one of the major and important neovascular AMD genes, the HtrA serine peptidase 1 (HTRA1) gene at location 10q26, has been identified in both Caucasian and Chinese patients [3,21]. HTRA1 also has been reported equally in Japanese patients with AMD [16,22]. Some researchers have reported that the LOC387715/HTRA1 variants or ARMS2 (age-related maculopathy susceptibility 2)/HTRA1 variants were associated with PCV and typical AMD in a Japanese population, which suggested that PCV and typical AMD are similar in genetic susceptibility [4,5,11].…”