2008
DOI: 10.1016/j.ophtha.2007.10.032
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Abstract: Objective-To examine if the genes encoding the pleckstrin homology domain-containing protein gene (PLEKHA1), hypothetical LOC387715/ARMS2 gene, and HtrA serine peptidase 1 gene (HTRA1) located on the long arm of chromosome 10 (10q26 region) confer risk for neovascular age-related macular degeneration (AMD) in an independent or interactive manner when controlling for complement factor H gene (CFH) genotype and smoking exposure.Design-Retrospective matched-pair case-control study.Participants-Hospital clinic-bas… Show more

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Cited by 94 publications
(85 citation statements)
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“…ARMS2 may play roles in mitochondrial and extracellular matrix function, and numerous polymorphisms in ARMS2 have been linked to AMD. 24 -26 A well-characterized SNP in the promoter region of HTRA1 has been associated specifically with neovascular AMD, 27,28 potentially by facilitating choroidal neovascularization through enhanced degradation of extracellular matrix. 2 The chemokine receptor CCR3 29 and SNPs in VEGF 30 have also been linked to neovascular AMD.…”
Section: Discussionmentioning
confidence: 99%
“…ARMS2 may play roles in mitochondrial and extracellular matrix function, and numerous polymorphisms in ARMS2 have been linked to AMD. 24 -26 A well-characterized SNP in the promoter region of HTRA1 has been associated specifically with neovascular AMD, 27,28 potentially by facilitating choroidal neovascularization through enhanced degradation of extracellular matrix. 2 The chemokine receptor CCR3 29 and SNPs in VEGF 30 have also been linked to neovascular AMD.…”
Section: Discussionmentioning
confidence: 99%
“…Leukocyte DNA was purified by using either the standard phenol chloroform or the DNAzol (Invitrogen Corp., Carlsbad, CA) extraction protocol. Previously reported oligonucleotide primers were used to amplify exon 1 and the flanking intronic sequence for HTRA1 (29). For sequencing reactions, PCR products were digested according to the manufacturer's protocol with exonuclease I and shrimp alkaline phosphatase (USB Products, Affymetrix, Inc., Cleveland, OH) and then subjected to a cycle sequencing reaction by using the BigDye Terminator 3.1 cycle sequencing kit (Applied Biosystems, Foster City, CA) according to the manufacturer's protocol.…”
Section: Methodsmentioning
confidence: 99%
“…Nearly 90% of the individuals with severe vision loss suffer from neovascular AMD (NvAMD), which involves lesions of Bruch's membrane and neovascularization emanating from the choroidal vasculature (22)(23)(24). SNPs within the 10q26 locus (25,26), wherein the high-temperature requirement A1 (HTRA1) gene resides, are the variants most strongly associ-ated with the risk of developing AMD overall and in particular with the risk of developing NvAMD (27)(28)(29). The protein product HtrA1 is a ubiquitously expressed protein that is enriched in fibroblasts and mature epithelium and moderately expressed in vascular endothelial cells.…”
mentioning
confidence: 99%
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“…34 Also, recent mouse transgene experiments suggest that manipulation of HTRA protein expression may provide insight into the mechanistic basis of the risk associated with the human gene polymorphisms. 35,36 Taken together, the sCNV mouse represents a valuable research tool for disease mechanism studies, as well as drug discovery and development opportunities for CNV associated with AMD.…”
Section: Additional Chorio-retinal Changesmentioning
confidence: 99%