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J. Mok, Y. Kim, S.-J. Baek, I.-T. Kim, H.-S. Kim, C.-K. Joo; A Strong Association of HTRA1 in Korean Patients With Age Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2008;49(13):246. doi: https://doi.org/.
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Age-related degeneration (AMD) is the leading cause of vision loss and blindness among older individuals. Although the etiology of AMD is not clearly understood, AMD has a strong genetic predisposition. A high temperature requirement A-1 serine protease (HTRA1, MIM 602194) is encoded at 10q26, which has previously been identified as a second major susceptibility AMD gene locus. To determine the possibility of HTRA1 (ARMD7) as potential susceptibility candidate gene for Korean patients with age related macular degeneration (AMD), we investigated the association of theHTRA1 serine protease gene.
Total genomic DNAs were extracted from buccal swab samples of 90 unrelated patients with exudative AMD visited the Department of Ophthalmology at the Catholic University Medical Center. Genotyping of rs11200638 in promoter of the HTRA1 serine peptidase gene was performed using polymerase chain reaction - EagI RFLP and direct sequencing. Control individuals were selected from the general population without AMD.
In this study, we investigated rs11200638 of HTRA1 in Korean patients with AMD. The frequencies of the GG, GA and AA genotypes were 35.0%, 52.9% and 12.1% in control subjects and were 10.7%, 49.1% and 40.2% in AMD patients, respectively. The AA genotypes (p = 0.0001, O.R. = 4.89, 95% CI: 2.851<<8.376) for rs11200638 of HTRA1 was significantly more prevalent in patients with AMD than among control subjects. Whereas GG genotype in AMD patients was significantly decreased compared with the control subjects (p=0.0001). AMD patients had significantly higher A allele frequency than controls (p=0.0001, O.R. = 2.94, 95% CI 2.116<<4.692). In comparison to GG homozygous, the ORs for AMD with AA homozygous and GA heterozygous were 10.86 and 3.03, respectively. The genotype distributions of all polymorphisms of HTRA1 among the control subjects and the affected individuals were in Hardy-Weinberg equilibrium.
In this study, Korean AMD patients showed significantly difference in rs11200638 of HTRA1. In particularly, the OR for AMD associated with the AA genotypes was 10.86, when compared to the GG genotype. Therefore, it is suggested that rs11200638 in promoter of HTRA1 seem to be associated with AMD predisposition in a Korean.
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