HTRA1 Promoter Polymorphism in Wet Age-Related Macular Degeneration

@article{Dewan2006HTRA1PP,
  title={HTRA1 Promoter Polymorphism in Wet Age-Related Macular Degeneration},
  author={Andrew T Dewan and Mugen Liu and Stephen Hartman and Samuel Shao-Min Zhang and David T. L. Liu and Connie Zhao and Pancy Oi Sin Tam and Wai-man Chan and Dennis Shun Chiu Lam and Michael Snyder and Colin J. Barnstable and Chi Pui Pang and Josephine Hoh},
  journal={Science},
  year={2006},
  volume={314},
  pages={989 - 992}
}
Age-related macular degeneration (AMD), the most common cause of irreversible vision loss in individuals aged older than 50 years, is classified as either wet (neovascular) or dry (nonneovascular). Inherited variation in the complement factor H gene is a major risk factor for drusen in dry AMD. Here we report that a single-nucleotide polymorphism in the promoter region of HTRA1, a serine protease gene on chromosome 10q26, is a major genetic risk factor for wet AMD. A whole-genome association… Expand
A Variant of the HTRA1 Gene Increases Susceptibility to Age-Related Macular Degeneration
TLDR
A single-nucleotide polymorphism in the promoter region of HTRA1 is the most likely causal variant for AMD at 10q26 and is estimated to confer a population attributable risk of 49.3%. Expand
Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration
TLDR
Analysis of rare recombinant haplotypes in AMD cases and controls identified variants in ARMS2 but not HTRA1 to exclusively carry the AMD risk with P-values between 1.0 × 10−773 and 6.7 × 10–5.7, which allows prioritization of the gene of interest for subsequent functional studies. Expand
The chromosome 10q26 susceptibility locus in age-related macular degeneration.
Age-related macular degeneration (AMD) is the leading cause of blindness in developed countries. Two major risk loci for the disease have been identified: CFH on chromosome 1 and a locus inExpand
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TLDR
This study supports the candidacy of CD36 as a novel susceptibility gene for neovascular AMD by testing 19 tag single nucleotide polymorphisms across CD36 for their association with the disease in a Japanese population comprising 109 neov vascular AMD subjects and 182 unrelated controls. Expand
10q26 is associated with increased risk of age-related macular degeneration in the Utah population.
TLDR
An association study incorporating SNP data for LOC387715 and PLEKHA1 at 10q26 and for CFH at 1q31.3 in the Utah AMD cohort supports previous findings that wet AMD is usually associated with an aggressive form of visual loss due to choroidal neovascularization. Expand
Age-related macular degeneration and association of CFH Y402H and LOC387715 A69S polymorphisms in a Turkish population.
TLDR
This study hypothesized a potential association between CFH gene Y402H and HTRA1 LOC387715 gene A69S polymorphism in Turkish AMD patients and found that Y 402H C and A 69S T allele were associated with AMD, the first study showing that Y402h and LOC38 7715 are associated withAMD in Turkish population. Expand
Genetic Basis of Age-related Macular Degeneration
TLDR
Recent genome-wide association studies confirmed these AMD susceptibility loci in addition to other genes in the complement system (C2, C3, CFB and CFI) influencing susceptibility to AMD. Expand
Association of coding and UTR variants in the known regions with wet age-related macular degeneration in Han Chinese population
TLDR
Two new potential coding and UTR variant SNPs are identified that showed weak associations with wet AMD in the Han Chinese population that were identified using the previously published whole exome sequencing dataset. Expand
Influence of TIMP3/SYN3 polymorphisms on the phenotypic presentation of age-related macular degeneration
TLDR
The data suggest that rs9621532 carriers have a lower risk of developing nAMD, potentially because of decreased transcription of TIMP3. Expand
A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population
TLDR
It is shown that polymorphism of the LOC387715 gene is associated with AMD in Japanese as well as in Caucasians, and a disease odds ratio of 6.20 conferred by homozygosity for risk alleles at LOC 387715 compared with the non-risk genotype. Expand
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A Variant of the HTRA1 Gene Increases Susceptibility to Age-Related Macular Degeneration
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A single-nucleotide polymorphism in the promoter region of HTRA1 is the most likely causal variant for AMD at 10q26 and is estimated to confer a population attributable risk of 49.3%. Expand
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