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H. Kim, J.-W. Mok, Y. Kim, S.-H. Chung, J.-M. Park, C.-K. Joo; A Strong Association of Plekha1 in Korean Patients With Age Related Macular Degeneration. Invest. Ophthalmol. Vis. Sci. 2009;50(13):3448.
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Age-related macular 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 pleckstrin homology domain containing, family A, member 1 (PLEKHA1, MIM 607772) is encoded at 10q26, which has previously been showed increased risk of neovascular AMD. To determine the possibility of PLEKHA1 gene as potential susceptibility candidate gene for Korean patients with AMD, we investigated the association of the PLEKHA1 polymorphisms in unrelated Korean patients with AMD
Total genomic DNAs were extracted from buccal swab samples of 100 unrelated patients with exudative AMD visited the Department of Ophthalmology at the Catholic University Medical Center. Genotyping of rs4146894 in intron 2 of the PLEKHA1 gene was performed using polymerase chain reaction - RsaI RFLP and direct sequencing. Age matched 230 control individuals from Korea Centers for Disease Control and Prevention with no history of AMD were also enrolled.
In this study, we investigated rs4146879 in intron 2 of PLEKHA1 in Korean patients with AMD. The frequencies of the tt, tc and cc genotypes were 63.0%, 29.6% and 7.4% in AMD patients and were 37.6%, 51.1% and 11.3% in control subejcts, respectively. The tt genotypes (p < 0.0001, O.R. = 2.83, 95% CI: 0.673<<4.774) for rs4146879 of PLEKHA1 was significantly more prevalent in patients with AMD than among control subjects. Whereas tc genotype in AMD patients was significantly decreased compared with the control subjects (p=0.001). The c/c genotype showed no significant genotype frequency differences between AMD patients and control subjects. AMD patients had significantly higher t allele frequency than controls (p=0.001, O.R. = 2.01, 95% CI 1.349<<3.099). The genotype distributions of all polymorphisms of PLEKHA1 among the control subjects and the affected individuals were in Hardy-Weinberg equilibrium.
In this study, Korean AMD patients showed significantly difference in rs4146894 of PLEKHA1. Therefore, it is suggested that rs4146879 in intron 2 of PLEKHA1 seems to be associated with AMD predisposition in a Korean.
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