ARMS2

Summary

Gene Symbol: ARMS2
Description: age-related maculopathy susceptibility 2
Alias: ARMD8, age-related maculopathy susceptibility protein 2
Species: human
Products:     ARMS2

Top Publications

  1. Cameron D, Yang Z, Gibbs D, Chen H, Kaminoh Y, Jorgensen A, et al. HTRA1 variant confers similar risks to geographic atrophy and neovascular age-related macular degeneration. Cell Cycle. 2007;6:1122-5 pubmed
    ..These findings expand the role of HTRA1 in AMD. Understanding the underlying molecular mechanism will provide an important insight in pathogenesis of AMD. ..
  2. Seddon J, Gensler G, Rosner B. C-reactive protein and CFH, ARMS2/HTRA1 gene variants are independently associated with risk of macular degeneration. Ophthalmology. 2010;117:1560-6 pubmed publisher
    Genetic variants CFH and ARMS2/HTRA1 gene regions as well as high-sensitivity C-reactive protein (CRP) levels are related to age-related macular degeneration (AMD)...
  3. Leveziel N, Puche N, Richard F, Somner J, Zerbib J, Bastuji Garin S, et al. Genotypic influences on severity of exudative age-related macular degeneration. Invest Ophthalmol Vis Sci. 2010;51:2620-5 pubmed publisher
    Major genetic risk factors have recently been identified for age-related macular degeneration (AMD), including the ARMS2/LOC387715 and CFH at-risk polymorphisms...
  4. Sakurada Y, Kubota T, Mabuchi F, Imasawa M, Tanabe N, Iijima H. Association of LOC387715 A69S with vitreous hemorrhage in polypoidal choroidal vasculopathy. Am J Ophthalmol. 2008;145:1058-1062 pubmed publisher
    ..To investigate whether the LOC387715 polymorphism is associated with polypoidal choroidal vasculopathy (PCV) and with vitreous hemorrhage (VH), one of the most severe clinical phenotypes, in the Japanese population...
  5. Nakanishi H, Yamashiro K, Yamada R, Gotoh N, Hayashi H, Nakata I, et al. Joint effect of cigarette smoking and CFH and LOC387715/HTRA1 polymorphisms on polypoidal choroidal vasculopathy. Invest Ophthalmol Vis Sci. 2010;51:6183-7 pubmed publisher
    ..41 (95% CI, 1.14-5.10). CFH Y402H and LOC387715 A69S are both significantly associated with PCV. Cigarette smoking is an environmental risk factor for PCV. The findings suggest interactions between CFH 402H and cigarette smoking in PCV. ..
  6. Spencer K, Olson L, Anderson B, Schnetz Boutaud N, Scott W, Gallins P, et al. C3 R102G polymorphism increases risk of age-related macular degeneration. Hum Mol Genet. 2008;17:1821-4 pubmed publisher
    ..17]. Therefore, while the strong LD between R102G and L314P makes it difficult to disentangle their individual effects on disease risk, the R102G polymorphism acting alone provides the best model for disease in our data. ..
  7. Yang Z, Tong Z, Chen Y, Zeng J, Lu F, Sun X, et al. Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration. PLoS Genet. 2010;6:e1000836 pubmed publisher
    ..These data implicate increased HTRA1 expression in the pathogenesis of AMD and highlight the importance of exploring multiple functional consequences of alleles in haplotypes that confer susceptibility to complex traits. ..
  8. Seddon J, Reynolds R, Maller J, Fagerness J, Daly M, Rosner B. Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables. Invest Ophthalmol Vis Sci. 2009;50:2044-53 pubmed publisher
    ..7-7.1) for CFH Y402H; 3.7 (95% CI, 1.6-8.4) for CFH rs1410996; 25.4 (95% CI, 8.6-75.1) for LOC387715 A69S (ARMS2); 0.3 (95% CI, 0.1-0.7) for C2 E318D; 0.3 (95% CI, 0.1-0.5) for CFB; and 3.6 (95% CI, 1.4-9...
  9. Tanimoto S, Tamura H, Ue T, Yamane K, Maruyama H, Kawakami H, et al. A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population. Neurosci Lett. 2007;414:71-4 pubmed
    ..20 (95% CI: 2.87-13.40) conferred by homozygosity for risk alleles at LOC387715 compared with the non-risk genotype. A polymorphism of LOC387715 gene is associated with AMD in the Japanese population. ..

More Information

Publications69

  1. Ross R, Bojanowski C, Wang J, Chew E, Rochtchina E, Ferris F, et al. The LOC387715 polymorphism and age-related macular degeneration: replication in three case-control samples. Invest Ophthalmol Vis Sci. 2007;48:1128-32 pubmed
    ..This may be because the BMES samples consisted of largely early AMD cases while the clinic-based AMD samples consisted exclusively of advanced cases. ..
  2. Fuse N, Mengkegale M, Miyazawa A, Abe T, Nakazawa T, Wakusawa R, et al. Polymorphisms in ARMS2 (LOC387715) and LOXL1 genes in the Japanese with age-related macular degeneration. Am J Ophthalmol. 2011;151:550-6.e1 pubmed publisher
    To determine whether polymorphisms in the ARMS2 (LOC387715) gene and the lysyl oxidase-like 1 (LOXL1) gene are associated with age-related macular degeneration (AMD) in Japanese patients. Clinically relevant laboratory investigation...
  3. Sakurada Y, Kubota T, Imasawa M, Mabuchi F, Tanabe N, Iijima H. Association of LOC387715 A69S genotype with visual prognosis after photodynamic therapy for polypoidal choroidal vasculopathy. Retina. 2010;30:1616-21 pubmed publisher
    ..The LOC387715 A69S genotype is of clinical importance to predict the visual prognosis after photodynamic therapy in eyes with PCV. These results should be confirmed or refuted by replication studies. ..
  4. Zerbib J, Richard F, Puche N, Leveziel N, Cohen S, Korobelnik J, et al. R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population. Mol Vis. 2010;16:1324-30 pubmed
    ..and genotyped for Y402H of complement factor H (CFH), rs10490924 of age-related maculopathy susceptibility 2 (ARMS2), and R102G of the C3 gene...
  5. Fritsche L, Loenhardt T, Janssen A, Fisher S, Rivera A, Keilhauer C, et al. Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. Nat Genet. 2008;40:892-6 pubmed publisher
    ..Signals at 10q26 center over two nearby genes, ARMS2 (age-related maculopathy susceptibility 2, also known as LOC387715) and HTRA1 (high-temperature requirement factor ..
  6. Gotoh N, Nakanishi H, Hayashi H, Yamada R, Otani A, Tsujikawa A, et al. ARMS2 (LOC387715) variants in Japanese patients with exudative age-related macular degeneration and polypoidal choroidal vasculopathy. Am J Ophthalmol. 2009;147:1037-41, 1041.e1-2 pubmed publisher
    To determine the characteristics of the polymorphisms in the ARMS2 gene in Japanese patients with age-related macular degeneration (AMD) and those with polypoidal choroidal vasculopathy (PCV) and in healthy controls, and also to show ..
  7. Hayashi H, Yamashiro K, Gotoh N, Nakanishi H, Nakata I, Tsujikawa A, et al. CFH and ARMS2 variations in age-related macular degeneration, polypoidal choroidal vasculopathy, and retinal angiomatous proliferation. Invest Ophthalmol Vis Sci. 2010;51:5914-9 pubmed publisher
    To seek an association in Japanese individuals between the CFH polymorphisms Y402H and I62V and the ARMS2 polymorphism A69S and age-related macular degeneration (AMD) or its three subtypes: typical (t)AMD, polypoidal choroidal ..
  8. Friedrich U, Myers C, Fritsche L, Milenkovich A, Wolf A, Corbo J, et al. Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency. Hum Mol Genet. 2011;20:1387-99 pubmed publisher
    ..These variants tag a single-risk haplotype encompassing the genes ARMS2 (age-related maculopathy susceptibility 2) and part of HTRA1 (HtrA serine peptidase 1)...
  9. Sakurada Y, Kubota T, Imasawa M, Mabuchi F, Tateno Y, Tanabe N, et al. Role of complement factor H I62V and age-related maculopathy susceptibility 2 A69S variants in the clinical expression of polypoidal choroidal vasculopathy. Ophthalmology. 2011;118:1402-7 pubmed publisher
    To investigate the role of complement factor H (CFH) I62V (rs800292) and age-related maculopathy susceptibility 2 (ARMS2) A69S (rs10490924) variants in the clinical characteristics of polypoidal choroidal vasculopathy (PCV)...
  10. Goto A, Akahori M, Okamoto H, Minami M, Terauchi N, Haruhata Y, et al. Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population. J Ocul Biol Dis Infor. 2009;2:164-175 pubmed
    ..Although genetic association in the 10q26 (ARMS2/HTRA1) region has been established in many ethnic groups for dry-type AMD, typical wet-type AMD, and PCV, the ..
  11. Kaur I, Katta S, Hussain A, Hussain N, Mathai A, Narayanan R, et al. Variants in the 10q26 gene cluster (LOC387715 and HTRA1) exhibit enhanced risk of age-related macular degeneration along with CFH in Indian patients. Invest Ophthalmol Vis Sci. 2008;49:1771-6 pubmed publisher
    ..These associations underscore their significant involvement in AMD susceptibility, which may be useful for predictive testing. ..
  12. Marioli D, Pharmakakis N, Deli A, Havvas I, Zarkadis I. Complement factor H and LOC387715 gene polymorphisms in a Greek population with age-related macular degeneration. Graefes Arch Clin Exp Ophthalmol. 2009;247:1547-53 pubmed publisher
  13. Conley Y, Jakobsdottir J, Mah T, Weeks D, Klein R, Kuller L, et al. CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses. Hum Mol Genet. 2006;15:3206-18 pubmed
    ..This study provides additional support for the CFH and LOC387715 genes in ARM susceptibility via the evaluation of cohorts that had different ascertainment schemes regarding ARM status and through the meta-analyses. ..
  14. Bessho H, Honda S, Kondo N, Negi A. The association of age-related maculopathy susceptibility 2 polymorphisms with phenotype in typical neovascular age-related macular degeneration and polypoidal choroidal vasculopathy. Mol Vis. 2011;17:977-82 pubmed
    To determine the association of age-related maculopathy susceptibility 2 (ARMS2) gene polymorphisms with the phenotype of typical neovascular age-related macular degeneration (tAMD) and polypoidal choroidal vasculopathy (PCV) and the ..
  15. Chen J, Yang Y, Zheng Y, Qiu M, Xie M, Lin W, et al. No association of age-related maculopathy susceptibility protein 2/HtrA serine peptidase 1 or complement factor H polymorphisms with early age-related maculopathy in a Chinese cohort. Mol Vis. 2013;19:944-54 pubmed
    Single nucleotide polymorphisms (SNPs) of age-related maculopathy susceptibility protein 2/HtrA serine peptidase 1 (ARMS2/HTRA1) and complement factor H (CFH) have been reported to be associated with age-related macular degeneration (AMD)..
  16. Tong Y, Liao J, Zhang Y, Zhou J, Zhang H, Mao M. LOC387715/HTRA1 gene polymorphisms and susceptibility to age-related macular degeneration: A HuGE review and meta-analysis. Mol Vis. 2010;16:1958-81 pubmed
    ..macular degeneration (AMD) with HtrA serine peptidase 1 (HTRA1) gene rs11200638 G?A polymorphism and LOC387715/ ARMS2 gene rs10490924 G?T polymorphisms, and to evaluate the magnitude of the gene effect and the possible genetic mode ..
  17. Despriet D, van Duijn C, Oostra B, Uitterlinden A, Hofman A, Wright A, et al. Complement component C3 and risk of age-related macular degeneration. Ophthalmology. 2009;116:474-480.e2 pubmed publisher
    ..50 (95% CI, 1.31-1.71) for the P314L allele. Our study showed a significant association between variants in the C3 gene and AMD and further highlights the crucial role of the complement pathway in the etiology of AMD. ..
  18. Tanaka K, Nakayama T, Mori R, Sato N, Kawamura A, Mizutani Y, et al. Associations of complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2) genotypes with subtypes of polypoidal choroidal vasculopathy. Invest Ophthalmol Vis Sci. 2011;52:7441-4 pubmed publisher
    To clarify whether complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2) genotypes are associated with subtypes of polypoidal choroidal vasculopathy (PCV), such as polypoidal choroidal neovascularization (CNV) ..
  19. Rivera A, Fisher S, Fritsche L, Keilhauer C, Lichtner P, Meitinger T, et al. Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. Hum Mol Genet. 2005;14:3227-36 pubmed
    ..Our data show a disease odds ratio of 57.6 (95% CI: 37.2, 89.0) conferred by homozygosity for risk alleles at both CFH and LOC387715 when compared with the baseline non-risk genotype. ..
  20. Jakobsdottir J, Conley Y, Weeks D, Ferrell R, Gorin M. C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes. PLoS ONE. 2008;3:e2199 pubmed publisher
    ..Variants within two genes, the complement factor H (CFH) and the poorly characterized LOC387715 (ARMS2), are widely recognized as ARM risk factors...
  21. Xu Y, Guan N, Xu J, Yang X, Ma K, Zhou H, et al. Association of CFH, LOC387715, and HTRA1 polymorphisms with exudative age-related macular degeneration in a northern Chinese population. Mol Vis. 2008;14:1373-81 pubmed
    ..We found no association of CFH Y402H with exudative AMD. The low frequency of CFH Y402H variant was further confirmed in this study population. ..
  22. Chen W, Stambolian D, Edwards A, Branham K, Othman M, Jakobsdottir J, et al. Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A. 2010;107:7401-6 pubmed publisher
    ..Our results validate AMD susceptibility loci near CFH (P < 10(-75)), ARMS2 (P < 10(-59)), C2/CFB (P < 10(-20)), C3 (P < 10(-9)), and CFI (P < 10(-6))...
  23. Lima L, Schubert C, Ferrara D, Merriam J, Imamura Y, Freund K, et al. Three major loci involved in age-related macular degeneration are also associated with polypoidal choroidal vasculopathy. Ophthalmology. 2010;117:1567-70 pubmed publisher
    ..To investigate the frequency of variants in 3 major age-related macular degeneration (AMD)-associated loci in patients of European-American descent with polypoidal choroidal vasculopathy (PCV)...
  24. Francis P, George S, Schultz D, Rosner B, Hamon S, Ott J, et al. The LOC387715 gene, smoking, body mass index, environmental associations with advanced age-related macular degeneration. Hum Hered. 2007;63:212-8 pubmed
    ..Current cigarette smoking and body mass index were independently related to AMD, controlling for genotype. However, there was no statistical interaction between LOC387715 genotype and smoking with regard to advanced AMD development. ..
  25. Pulido J, Peterson L, Mutapcic L, Bryant S, Highsmith W. LOC387715/HTRA1 and complement factor H variants in patients with age-related macular degeneration seen at the mayo clinic. Ophthalmic Genet. 2007;28:203-7 pubmed
    ..97 (CI 2.52 to 9.79). For LOC387715/HTRA1 the odds ratio for the homozygous risk variant was 7.75 (CI 3.46 to 17.35). The odds ratio for heterozygous carriers was 3.35 (CI 1.91 to 5.90). ..
  26. Sakurada Y, Kubota T, Imasawa M, Tsumura T, Mabuchi F, Tanabe N, et al. Angiographic lesion size associated with LOC387715 A69S genotype in subfoveal polypoidal choroidal vasculopathy. Retina. 2009;29:1522-6 pubmed publisher
    To investigate whether the LOC387715/ARMS2 variants are associated with an angiographic phenotype, including lesion size and composition, in subfoveal polypoidal choroidal vasculopathy...
  27. Kondo N, Honda S, Ishibashi K, Tsukahara Y, Negi A. LOC387715/HTRA1 variants in polypoidal choroidal vasculopathy and age-related macular degeneration in a Japanese population. Am J Ophthalmol. 2007;144:608-12 pubmed
    ..The associations are stronger in AMD than in PCV. PCV and AMD share common genetic factors, which suggests that PCV and wet AMD are similar in some pathophysiologic aspects. ..
  28. Gotoh N, Yamashiro K, Nakanishi H, Saito M, Iida T, Yoshimura N. Haplotype analysis of the ARMS2/HTRA1 region in Japanese patients with typical neovascular age-related macular degeneration or polypoidal choroidal vasculopathy. Jpn J Ophthalmol. 2010;54:609-14 pubmed publisher
    To compare the genomic contribution of the ARMS2/HTRA1 region of chromosome 10q26 to typical neovascular age-related macular degeneration (nAMD) (also known as typical exudative AMD) and to polypoidal choroidal vasculopathy (PCV) METHODS:..
  29. Shuler R, Schmidt S, Gallins P, Hauser M, Scott W, Caldwell J, et al. Phenotype analysis of patients with the risk variant LOC387715 (A69S) in age-related macular degeneration. Am J Ophthalmol. 2008;145:303-307 pubmed
    ..This variant may also be associated with an earlier onset of AMD. Phenotypes that suggest a high-risk genotype may prove valuable for diagnostic, therapeutic, and research purposes. ..
  30. Neale B, Fagerness J, Reynolds R, Sobrin L, Parker M, Raychaudhuri S, et al. Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). Proc Natl Acad Sci U S A. 2010;107:7395-400 pubmed publisher
    ..Results implicate different biologic pathways than previously reported and provide new avenues for prevention and treatment of AMD. ..
  31. Kopplin L, Igo R, Wang Y, Sivakumaran T, Hagstrom S, Peachey N, et al. Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration. Genes Immun. 2010;11:609-21 pubmed publisher
    ..In addition to the complement factor H (CFH) (P=2.3 × 10???) and age-related maculopathy susceptibility 2 (ARMS2) (P=1.2 × 10???) loci, we observed a protective effect at rs429608, an intronic SNP in SKIV2L (P=5...
  32. DeAngelis M, Ji F, Adams S, Morrison M, Harring A, Sweeney M, et al. Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration. Ophthalmology. 2008;115:1209-1215.e7 pubmed publisher
    ..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 ..
  33. Wang J, Ross R, Tuo J, Burlutsky G, Tan A, Chan C, et al. The LOC387715 polymorphism, inflammatory markers, smoking, and age-related macular degeneration. A population-based case-control study. Ophthalmology. 2008;115:693-9 pubmed
    ..We found no significant interaction but combined effects for the LOC387715 genotypes with 3 inflammatory markers and PAI-1 on the risk of early or late AMD, and with current smoking on the risk of late AMD. ..
  34. Ricci F, Zampatti S, D Abbruzzi F, Missiroli F, Martone C, Lepre T, et al. Typing of ARMS2 and CFH in age-related macular degeneration: case-control study and assessment of frequency in the Italian population. Arch Ophthalmol. 2009;127:1368-72 pubmed publisher
    To determine the effects of the polymorphisms CFH Tyr402His and ARMS2 del443ins54 on susceptibility to age-related macular degeneration (AMD) and to find the frequencies of these single-nucleotide polymorphisms in an Italian population ..
  35. Reynolds R, Hartnett M, Atkinson J, Giclas P, Rosner B, Seddon J. Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes. Invest Ophthalmol Vis Sci. 2009;50:5818-27 pubmed publisher
    ..polymorphisms in six genes previously shown to be associated with AMD: CFB, CFH, C2, C3, and CFI and the LOC387715/ARMS2 gene region...
  36. Park D, Kim I. Association of ARMS2/HTRA1 variants with polypoidal choroidal vasculopathy phenotype in a Korean population. Jpn J Ophthalmol. 2012;56:60-7 pubmed publisher
    To investigate whether ARMS2 (rs10490924)/HTRA1 (rs11200638) variants are associated with polypoidal choroidal vasculopathy (PCV) in a Korean population and with various PCV phenotypes.
  37. Francis P, Zhang H, Dewan A, Hoh J, Klein M. Joint effects of polymorphisms in the HTRA1, LOC387715/ARMS2, and CFH genes on AMD in a Caucasian population. Mol Vis. 2008;14:1395-400 pubmed
    ..factor H (CFH), HtrA serine peptidase 1 (HTRA1), and age-related maculopathy susceptibility 2 (LOC387715/ARMS2) in a Caucasian age related macular degeneration (AMD) case-control cohort...
  38. Seddon J, Francis P, George S, Schultz D, Rosner B, Klein M. Association of CFH Y402H and LOC387715 A69S with progression of age-related macular degeneration. JAMA. 2007;297:1793-800 pubmed
  39. Buentello Volante B, Rodriguez Ruiz G, Miranda Duarte A, Pompa Mera E, Graue Wiechers F, Bekker Mendez C, et al. Susceptibility to advanced age-related macular degeneration and alleles of complement factor H, complement factor B, complement component 2, complement component 3, and age-related maculopathy susceptibility 2 genes in a Mexican population. Mol Vis. 2012;18:2518-25 pubmed
    ..B (CFB), complement component 2 (C2), complement component 3 (C3), and age-related maculopathy susceptibility 2 (ARMS2) genes in a Mexican population for the first time...
  40. Kanda A, Chen W, Othman M, Branham K, Brooks M, Khanna R, et al. A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. Proc Natl Acad Sci U S A. 2007;104:16227-32 pubmed
    ..We demonstrate, by evaluating 45 tag SNPs spanning HTRA1, PLEKHA1, and predicted gene LOC387715/ARMS2, that rs10490924 SNP alone, or a variant in strong linkage disequilibrium, can explain the bulk of association ..
  41. Brantley M, Fang A, King J, Tewari A, Kymes S, Shiels A. Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to intravitreal bevacizumab. Ophthalmology. 2007;114:2168-73 pubmed
    ..Prospective studies to confirm or refute this observation should be considered. ..
  42. Chowers I, Meir T, Lederman M, Goldenberg Cohen N, Cohen Y, Banin E, et al. Sequence variants in HTRA1 and LOC387715/ARMS2 and phenotype and response to photodynamic therapy in neovascular age-related macular degeneration in populations from Israel. Mol Vis. 2008;14:2263-71 pubmed
    Single nucleotide polymorphisms (SNPs) in the tightly linked LOC387715/ARMS2 and HTRA1 genes have been associated with age-related macular degeneration (AMD)...
  43. Leveziel N, Souied E, Richard F, Barbu V, Zourdani A, Morineau G, et al. PLEKHA1-LOC387715-HTRA1 polymorphisms and exudative age-related macular degeneration in the French population. Mol Vis. 2007;13:2153-9 pubmed
    ..Chromosome-10 genetic variants appear as potentially useful risk markers for early detection of AMD. ..
  44. Lee K, Vithana E, Mathur R, Yong V, Yeo I, Thalamuthu A, et al. Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese patients with polypoidal choroidal vasculopathy. Invest Ophthalmol Vis Sci. 2008;49:2613-9 pubmed publisher
    ..Variants in the C2 and BF genes have been found to confer a significantly reduced risk of AMD. This study was undertaken to determine whether these associations occur in Chinese patients with PCV...
  45. Munch I, Ek J, Kessel L, Sander B, Almind G, Brøndum Nielsen K, et al. Small, hard macular drusen and peripheral drusen: associations with AMD genotypes in the Inter99 Eye Study. Invest Ophthalmol Vis Sci. 2010;51:2317-21 pubmed publisher
    ..ClinicalTrials.gov number, NCT00289237). ..
  46. Bergeron Sawitzke J, Gold B, Olsh A, Schlotterbeck S, Lemon K, Visvanathan K, et al. Multilocus analysis of age-related macular degeneration. Eur J Hum Genet. 2009;17:1190-9 pubmed publisher
    ..component 2 (C2), complement component 3 (C3), complement factor B (CFB), age-related maculopathy susceptibility (ARMS2), HtrA serine peptidase 1 (HTRA1), and apolipoprotein E (APOE)...
  47. Scholl H, Fleckenstein M, Fritsche L, Schmitz Valckenberg S, Göbel A, Adrion C, et al. CFH, C3 and ARMS2 are significant risk loci for susceptibility but not for disease progression of geographic atrophy due to AMD. PLoS ONE. 2009;4:e7418 pubmed publisher
    ..encoding complement factor H (CFH), complement component 3 (C3) and age-related maculopathy susceptibility 2 (ARMS2) have repeatedly been shown to confer significant risks for AMD; however, their role in disease progression and ..
  48. Canter J, Olson L, Spencer K, Schnetz Boutaud N, Anderson B, Hauser M, et al. Mitochondrial DNA polymorphism A4917G is independently associated with age-related macular degeneration. PLoS ONE. 2008;3:e2091 pubmed publisher
    ..20-3.91, p = 0.01). In conclusion, a specific mitochondrial polymorphism previously implicated in other neurodegenerative phenotypes (4917G) appears to convey risk for AMD independent of recently discovered nuclear DNA polymorphisms. ..
  49. Jakobsdottir J, Conley Y, Weeks D, Mah T, Ferrell R, Gorin M. Susceptibility genes for age-related maculopathy on chromosome 10q26. Am J Hum Genet. 2005;77:389-407 pubmed
    ..0 (95% confidence interval 3.2-7.9) for ARM and a population attributable risk as high as 57%. ..
  50. Cipriani V, Leung H, Plagnol V, Bunce C, Khan J, Shahid H, et al. Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. Hum Mol Genet. 2012;21:4138-50 pubmed publisher
    ..This showed an association with the well-established AMD risk loci ARMS2 (age-related maculopathy susceptibility 2)-HTRA1 (HtrA serine peptidase 1) (P =2...
  51. Wang G, Spencer K, Court B, Olson L, Scott W, Haines J, et al. Localization of age-related macular degeneration-associated ARMS2 in cytosol, not mitochondria. Invest Ophthalmol Vis Sci. 2009;50:3084-90 pubmed publisher
    To analyze the relationship between ARMS2 and HTRA1 in the association with age-related macular degeneration (AMD) in an independent case-control dataset and to investigate the subcellular localization of the ARMS2 protein in an in vitro ..
  52. Hadley D, Orlin A, Brown G, Brucker A, Ho A, Regillo C, et al. Analysis of six genetic risk factors highly associated with AMD in the region surrounding ARMS2 and HTRA1 on chromosome 10, region q26. Invest Ophthalmol Vis Sci. 2010;51:2191-6 pubmed publisher
    ..of six genetic variants (rs10490924, rs3750848, del443ins54, rs3793917, rs11200638, and rs932275) localized to the ARMS2-HTRA1 region of chromosome 10, region q26, as risk factors for age-related macular degeneration (AMD), to define ..
  53. Sobrin L, Reynolds R, Yu Y, Fagerness J, Leveziel N, Bernstein P, et al. ARMS2/HTRA1 locus can confer differential susceptibility to the advanced subtypes of age-related macular degeneration. Am J Ophthalmol. 2011;151:345-52.e3 pubmed publisher
    ..The frequency of the T allele of ARMS2/HTRA1 rs10490924 was significantly higher in participants with CNV than in those with geographic atrophy (OR, 1...
  54. Brantley M, Edelstein S, King J, Plotzke M, Apte R, Kymes S, et al. Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to photodynamic therapy. Eye (Lond). 2009;23:626-31 pubmed publisher
    ..Patients with the CFH TT genotype fared significantly worse with PDT than did those with the CFH TC and CC genotypes, suggesting a potential relationship between CFH genotype and response to PDT. ..
  55. Schmidt S, Hauser M, Scott W, Postel E, Agarwal A, Gallins P, et al. Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. Am J Hum Genet. 2006;78:852-864 pubmed publisher
    ..We demonstrate, for the first time, that a genetic susceptibility coupled with a modifiable lifestyle factor such as cigarette smoking confers a significantly higher risk of AMD than either factor alone. ..
  56. Yu Y, Bhangale T, Fagerness J, Ripke S, Thorleifsson G, Tan P, et al. Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. Hum Mol Genet. 2011;20:3699-709 pubmed publisher
    ..15; P = 8.7 × 10(-9)). In addition to the two novel loci, 10 previously reported loci in ARMS2/HTRA1 (rs10490924), CFH (rs1061170, and rs1410996), CFB (rs641153), C3 (rs2230199), C2 (rs9332739), CFI (..
  57. Liang X, Lai T, Liu D, Fan A, Chen L, Tam P, et al. Differentiation of exudative age-related macular degeneration and polypoidal choroidal vasculopathy in the ARMS2/HTRA1 locus. Invest Ophthalmol Vis Sci. 2012;53:3175-82 pubmed publisher
    ..of exudative age-related macular degeneration (AMD) and polypoidal choroidal vasculopathy (PCV) with the ARMS2/HTRA1 locus...
  58. Hughes A, Orr N, Patterson C, Esfandiary H, Hogg R, McConnell V, et al. Neovascular age-related macular degeneration risk based on CFH, LOC387715/HTRA1, and smoking. PLoS Med. 2007;4:e355 pubmed
    ..Unless smoking habits change or preventative treatment becomes available, the prevalence of AMD will rise as a consequence of the increasing longevity of the population. ..
  59. Holliday E, Smith A, Cornes B, Buitendijk G, Jensen R, Sim X, et al. Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. PLoS ONE. 2013;8:e53830 pubmed publisher
    ..5×10(-31)) and age-related maculopathy susceptibility 2 (ARMS2) (P = 4...
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    ..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 (..