Further mapping of 10q26 supports strong association of HTRA1 polymorphisms with age-related macular degeneration
نویسندگان
چکیده
Age-related macular degeneration (AMD) is a complex disorder with genetic and environmental influences. The genetic influences affecting AMD are not well understood and few genes have been consistently implicated and replicated for this disease. A polymorphism (rs11200638) in a transcription factor binding site of the HTRA1 gene has been described, in previous reports, as being most significantly associated with AMD. In this paper, we investigate haplotype association and individual polymorphic association by genotyping additional variants in the AMD risk-associated region of chromosome 10q26. We demonstrate that rs11200638 in the promoter region and rs2293870 in exon 1 of HTRA1, are among the most significantly associated variants for advanced forms of AMD.
منابع مشابه
Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retina
PURPOSE Multiple studies demonstrate a strong association between three variants at chromosome 10q26 - rs10490924, del443ins54, and rs11200638 - near the age-related maculopathy susceptibility 2 (ARMS2) and high-temperature requirement factor A1 (HTRA1) genes with susceptibility to age-related macular degeneration (AMD). In different reports, the del443ins54 and rs11200638 variants are suggeste...
متن کاملHTRA1 promoter polymorphism predisposes Japanese to age-related macular degeneration
PURPOSE To study the effect of candidate single nucleotide polymorphisms (SNPs) on chromosome 10q26, recently shown to be associated with wet age-related macular degeneration (AMD) in Chinese and Caucasian cohorts, in a Japanese cohort. METHODS Using genomic DNA isolated from peripheral blood of wet AMD cases and age-matched controls, we genotyped two SNPs, rs10490924, and rs11200638, on chro...
متن کاملPRIORITY PAPER EVALUATION A potential therapeutic target in age-related macular degeneration
10.2217/14750708.4.2.167 © 2 Evaluation of: Yang Z, Camp NJ, Sun H et al.: A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science 314(5801), 992–993 (2006) [1]. Age-related macular degeneration is a common cause of visual loss in the elderly, yet the genetic basis for this disease is poorly understood. Linkage studies show a major susceptibility locus ...
متن کاملAnalysis of major alleles associated with age-related macular degeneration in patients with multifocal choroiditis: strong association with complement factor H.
OBJECTIVE To analyze the frequency of major age-related macular degeneration (AMD)-associated alleles in patients with multifocal choroiditis (MFC). METHODS A cohort of 48 patients with MFC was compared with previously characterized cohorts of patients with advanced AMD (368 samples) and matched unaffected controls (368 samples). Allele and genotype frequencies of single nucleotide polymorphi...
متن کاملPLEKHA1-LOC387715-HTRA1 polymorphisms and exudative age-related macular degeneration in the French population.
PURPOSE Identification of genetic factors for age-related macular degeneration (AMD) is of crucial importance in this common cause of blindness. Exudative AMD is rapidly progressive and usually associated with severe prognosis. Our purpose was to investigate this association on locus 10q26 in a case-control study including French patients specifically affected with exudative AMD. METHODS Poly...
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عنوان ژورنال:
- Vision Research
دوره 48 شماره
صفحات -
تاریخ انتشار 2008