Human Age-related maculopathy susceptibility protein 2(ARMS2) ELISA kit

Instructions
Code CSB-EL002120HU
Size 96T,5×96T,10×96T
See More Details 24T ELISA kits trial application
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Product Details

Target Name age-related maculopathy susceptibility 2
Alternative Names ARMS2Age-related maculopathy susceptibility protein 2 ELISA kit
Abbreviation ARMS2
Uniprot No. P0C7Q2
Species Homo sapiens (Human)
Sample Types serum, plasma, tissue homogenates, cell lysates
Detection Range 15.6 pg/mL-1000 pg/mL
Sensitivity 3.9 pg/mL
Assay Time 1-5h
Sample Volume 50-100ul
Detection Wavelength 450 nm
Research Area Neuroscience
Precision
Intra-assay Precision (Precision within an assay): CV%<8%
Three samples of known concentration were tested twenty times on one plate to assess.
Inter-assay Precision (Precision between assays): CV%<10%
Three samples of known concentration were tested in twenty assays to assess.
Linearity
To assess the linearity of the assay, samples were spiked with high concentrations of human ARMS2 in various matrices and diluted with the Sample Diluent to produce samples with values within the dynamic range of the assay.
  Sample Serum(n=4)
1:1 Average % 84
Range % 81-89
1:2 Average % 97
Range % 93-100
1:4 Average % 105
Range % 101-109
1:8 Average % 99
Range % 95-103
Recovery
The recovery of human ARMS2 spiked to levels throughout the range of the assay in various matrices was evaluated. Samples were diluted prior to assay as directed in the Sample Preparation section.
Sample Type Average % Recovery Range
Serum (n=5) 83 80-86
EDTA plasma (n=4) 101 98-103
Typical Data
These standard curves are provided for demonstration only. A standard curve should be generated for each set of samples assayed.
pg/ml OD1 OD2 Average Corrected
1000 1.956 1.900 1.928 1.786
500 1.586 1.537 1.562 1.420
250 1.045 1.130 1.088 0.946
125 0.709 0.731 0.720 0.578
62.5 0.426 0.406 0.416 0.274
31.2 0.310 0.313 0.312 0.170
15.6 0.234 0.241 0.238 0.096
0 0.141 0.143 0.142  
Troubleshooting
and FAQs
ELISA kit FAQs
Storage Store at 2-8°C. Please refer to protocol.
Lead Time 7-14 working days

Target Data

Gene References into Functions
  1. antioxidant and zinc nutritional supplement modifies risk of macular degeneration progression according to rs10490924 or 372_815del443ins54 genotype PMID: 29311295
  2. Our analysis showed stronger contribution of ARMS2 in age-related macular degeneration (AMD) with reticular pseudodrusen (RPD) group versus AMD without RPD group, in comparison with CFH genotypes. PMID: 28593728
  3. ARMS2 variants are likely associated with the 3-year outcomes of photodynamic therapy in patients with wet age-related macular degeneration. PMID: 28761324
  4. because the ARMS2/HTRA1 genes are positioned at a locus on chromosome 10q26 in a region with strong linkage disequilibrium, it is difficult to distinguish the functions of the individual genes. a review of recent epidemiological studies of Age-related macular degeneration(AMD) is offered. An argument for a definite correlation between the ARMS2 gene and AMD is presented PMID: 28583181
  5. In polypoidal choroidal vasculopathy patients, ARMS2 rs10490924 showed association with anatomic therapeutic response to anti-VEGF, suggesting pharmacogenetic relationship. PMID: 29212537
  6. The ARMS2 A69S polymorphism was associated with CNV recurrence rate in our patient cohort. Prediction of a greater risk of recurrence could help to design more appropriate follow-up treatment strategies for patients with neovascular AMD. PMID: 28744656
  7. Complement factor H Y402H (rs1061170) and age-related maculopathy susceptibility2 (ARMS2)/LOC387715 A69S (rs10490924) polymorphisms shown to have significant association with age-related macular degeneration (Meta-Analysis). PMID: 27269047
  8. The present meta-analysis revealed that the ARMS2 A69S risk variants confer a significantly greater risk of retinal angiomatous proliferation compared with neovascular age-related macular degeneration. PMID: 28005184
  9. we speculate that up-regulation of leptin and ARMS2 forms part of an important survival mechanism to compensate for placental growth discordance in monochorionic diamniotic twin pregnancies PMID: 28303777
  10. This analysis revealed the synergistic effect of these two factors indicating that there is a common pathway of ARMS2/LOC387715 and smoking in AMD pathogenesis which may be the complement system pathway. PMID: 28095100
  11. The findings of the present study provide evidence that CFH gene variants and ARMS2/HTRA1 genes play a major role in the genetic susceptibility to AMD in a Greek population. These findings are of direct relevance for disease and help mapping the genetic chart of AMD. PMID: 26848857
  12. Development of polypoidal choroidal vasculopathy (PCV) in the unaffected fellow eye is associated with ARMS2 A69S genotype in patients with unilateral PCV. PMID: 26332911
  13. OCT scans revealed lower retinal thickness in patients homozygous for CFH or ARMS2, which was caused by a significantly reduced photoreceptor layer. The number and ultrastructure of drusen were also significantly different. PMID: 28558370
  14. This study suggests that in familial age-related macular degeneration patients, the common genetic risk variant in ARMS2 is less important compared to sporadic age-related macular degeneration. PMID: 27258093
  15. this work we show that ARMS2 is externalized via an unconventional pathway bypassing Golgi. PMID: 27270414
  16. Interaction effects between supplement groups and individual complement factor H (CFH) Y402H and age-related maculopathy susceptibility 2 (ARMS2) genotypes, and composite genetic risk groups combining the number of risk alleles for both loci, were evaluated for their association with progression PMID: 27471039
  17. EMD were not AMD-independently associated with CFH or ARMS2 genotypes. Our results indicate that patients without AMD but with EMD can serve as controls in studies evaluating AMD risk factors. PMID: 26614632
  18. Variants in ARMS2 carry risk of age-related macular degeneration. PMID: 27879347
  19. CFH, ARMS2, and C3 were associated with specific features of neovascularization at the time patients were enrolled in Comparison of Age-Related Macular Degeneration Treatments Trials . PMID: 27099955
  20. Subfoveal choroidal thickness and choroidal vascular hyperpermeability in eyes with treatment-naive polypoidal choroidal vasculopathy were associated with ARMS2 A69S (rs10490924) and CFH (rs1329428). PMID: 26745149
  21. Studies indicate that the high-risk allele of the 10q26 locus encompasses three genes, PLEKHA1, ARMS2, and HTRA1 with high linkage disequilibrium. PMID: 26427389
  22. No significant interaction was found between DHA supplementation benefit and ARMS2 A69S SNP. PMID: 26132079
  23. These results suggest that there is a contribution of the rs10490924 SNP of the LOC387715/ARMS2 gene to AMD susceptibility in this sample of the Brazilian population. PMID: 24372405
  24. Determined the differential effects of genetic polymorphism in CFH and ARMS2 on risk of age-related macular degeneration (AMD) PMID: 25786237
  25. The growth of choroidal neovascularization in AMD would be affected by 2 genes: MMP20, a newly confirmed gene expressed in the retina, and ARMS2/HTRA1, a well-known susceptibility gene for AMD. PMID: 26337002
  26. results suggest that calcium, ARMS2 genotype, C. pneumonia infection, and age are significant factors in the development of the early stages of AMD. PMID: 25792034
  27. In this study, we found that the interaction of ARMS2 and ARMS2/HTRA1 is significantly associated with nAMD, and the interaction of CFH and ARMS2 is pronounced in PCV development in Chinese population. PMID: 25771815
  28. GRS using ARMS2, CFH, TNFRSF10A, VEGFA, and CFI was significantly associated with second-eye involvement. Genetic risk has high predictive ability for second-eye involvement of AMD. PMID: 26275133
  29. Patients carrying 4 risk alleles in CFH and ARMS2 developed neovascular AMD 12.2 (95% CI, 6.2-18.3) years earlier than patients with zero risk alleles (P < .001). PMID: 25695752
  30. Gene variants in CFH, ARMS2 and HTRA1 are related to an increased risk of age-related macular degeneration in a northern Chinese population. PMID: 24865190
  31. This study shows an association between A69S polymorphism in the ARMS2 gene and the anti-angiogenesis treatment response. PMID: 25185256
  32. High-risk alleles in the CFH and ARMS2/HTRA1 genes were not associated with increasing autosomal dominant radial drusen severity. PMID: 25077532
  33. Chronic chronic central serous chorioretinopathy (CSC) is associated with genetic variants in ARMS2 and CFH, indicating a genetic and pathophysiologic overlap between cCSC and age-related macular degeneration. PMID: 25439433
  34. The association with the CFH Y402 risk allele was less pronounced in retinal angiomatous proliferation patients (RAP) than in non-RAP CNV patients, while the association with high age and arterial hypertension appeared to be stronger. PMID: 24847905
  35. HTRA1 gene is transcriptionally regulated by insertion/deletion nucleotides located at the 3' end of the ARMS2 gene in patients with age-related macular degeneration. PMID: 25519903
  36. Genotypes at the CFH and ARMS2 loci did not statistically significantly alter the benefits of Age-Related Eye Disease Study (AREDS) supplements. PMID: 24974817
  37. There is association of ARMS2 gene polymorphism with different subtypes of Age-related macular degeneration PMID: 25715554
  38. The benefit of the AREDS formulation seems the result of a favorable response by patients in only 1 genotype group, balanced by neutral or unfavorable responses in 3 genotype groups. PMID: 25200399
  39. The combined geographic atrophy/choroidal neovascularization phenotype has similar epidemiologic, clinical, and genetic features. PMID: 25091949
  40. study revealed significant relationships between the plasma malondialdehyde level and ARMS2 variants and phenotypes in polypoidal choroidal vasculopathy and neovascular age-related macular degeneration PMID: 24240564
  41. Eyes with exudative macular degeneration, reticular pseudodrusen is more common in eyes with retinal angiomatous proliferation having a thin choroid at the fovea, especially in old, female patients with the risk variant of ARMS2 A69S. PMID: 24595987
  42. Variants in CFH, ABCA1, and ARMS2 genes are related to the presence and progression of drusen in early age-related macular degeneration. PMID: 24970616
  43. Index variants of AMD, rs1061170 (CFH) and rs10490924 (ARMS2), were associated with AMD at P=3.05x10(-8) and P=6.36x10(-6), respectively, in European Americans. PMID: 25205864
  44. A total of 12 weeks of exposure to mainstream cigarette smoke led to CNV rates of 7.7% for wild type (Wt) mice and 20% for HtrA1 Tg mice, but had no effect on ARMS2 Tg mice. PMID: 25205867
  45. Exudative age-related macular degeneration is associated with CFH Y402H and ARMS2 A69S polymorphisms, smoking and with nutritional factors; a decreased risk with dietary omega-3 fatty acids and fruits. PMID: 24362810
  46. There were no statistically significant interactions between current smoking or pack-years smoked and CFH or ARMS2 genotype in age-related macular degeneration. PMID: 24953792
  47. Our results show that genotypes of ARMS2 (rs10490923), HTRA1 (rs112000638) and CFH (rs1410996) polymorphisms are related to an increased risk of suffering AMD in Spanish patients. PMID: 23534868
  48. ARMS2 and C3 are major contributors to advanced age-related macular degeneration in Mexican patients, while the contributions of CFH, C2, and CFB are minor to those of other populations. PMID: 24453474
  49. This study did not show a correlation between ARMS2, C3, MT-NDH2, and CFH alleles in the development of choroid neovascularization associated with ocular histoplasmosis. PMID: 24612979
  50. These data suggest that polymorphisms of the ARMS2 do not modify the progression of the central field of vision in RP patients. PMID: 24217333
  51. In terms of ARMS2 and CFH, genetic background of patients with CVH and type 1 CNV was different from those with AMD, but rather similar to the general Japanese population. PMID: 24781946
  52. we have assessed the relationship between GA and previously identified AMD-associated variants of genes (CFH, CFB, C3, FHR1, FRH3, and ARMS2/HTRA). PMID: 24557084
  53. This study provides evidence of the joint contribution of genetic variants in PLEKHA1/ARMS2/HTRA1 to age-related macular degeneration risk. PMID: 24013816
  54. Our data demonstrates significant association between AMD and rs1061170 on CFH, rs10490924 on ARMS2 and rs11200638 on HTRA1 in Egyptian patients. These findings are in agreement with previous findings in Caucasians. PMID: 23362846
  55. our data indicate that the change in ARMS2 may affect C3, C5, IL-6, IL-8, and TNF-alpha levels, and this may be one of the mechanisms of AMD development. PMID: 23959158
  56. Haplotypes which combine "risk genotypes" of our analyzed polymorphisms are more frequent in patients with AMD than in the control group, and they seem to increase the risk of suffering the disease in our population PMID: 23414945
  57. CFH and ARMS2 polymorphisms were strongly associated with AMD in this Brazilian cohort. PMID: 23867343
  58. Korean individuals with the LOC387715/ARMS2 rs10490924, and to a lesser extent, CFH rs800292 variants might be at a greater risk for the development of exudative age-related macular degeneration (AMD) PMID: 23289807
  59. There may be significantly different associations in the genetic variants of ARMS2 between two angiographic phenotypes of polypoidal choroidal vasculopathy (PCV). PMID: 23289808
  60. The risk variants of ARMS2 A69S were associated with hemorrhagic and sub-pigment epithelial lesions and with bilaterality. Genotyping of ARMS2 A69S is useful in understanding clinical features in PCV. PMID: 24397185
  61. Patients with no CFH risk alleles and with 1 or 2 ARMS2 risk alleles derived maximum benefit from zinc-only supplementation. Patients with one or two CFH risk alleles and no ARMS2 risk alleles derived maximum benefit from antioxidant-only supplementation PMID: 23972322
  62. ARMS2 does not seem to be associated either with retinopathy or coronary artery disease PMID: 23296223
  63. the ARMS2 A69S variant is associated with an increased risk of polypoidal choroidal vasculopathy in the Asian population. Patients with the A69S variant may have a somewhat higher risk of developing PCV compared with controls. PMID: 23697955
  64. The HTRA1 promoter SNP (rs11200638) and A69S at LOC387715/ARMS2 were associated with a poorer visual outcome for ranibizumab or bevacizumab treatment in neovascular AMD. PMID: 23582991
  65. There was no significant difference in two ARMS2 transcript splice isoforms among retina-RPE-choroid samples carrying different genotypes at variants R38X and the indel in age related macualr degeneration. PMID: 23942973
  66. The ARMS2 rs10490924 polymorphism plays an important role in polypoidal choroidal vasculopathy susceptibility. [Meta-analysis] PMID: 23315805
  67. The association of ARMS2/HTRA1 and CFH single nucleotide polymorphisms in early age-related maculopathy was not detected in this cohort. PMID: 23687431
  68. The association of the del443ins54 of ARMS2 in two ethnically different populations from India and Australia, was investigated. PMID: 23592919
  69. Letter: ARMS2 A69S variant is most likely to influence risk of age-related macular degeneration. PMID: 23572227
  70. Although specific alleles for CFH, ARMS2, HTRA1, and C3 may predict the development of AMD, they did not predict response to anti-vascular endothelial growth factor therapy. PMID: 23337555
  71. There is a strong and consistent association of the ARMS2/HTRA1 locus with both neovascular age-related macular degeneration and polypoidal choroidal vasculopathy. PMID: 23326481
  72. These population-based data provide estimates of the long-term risk of the incidence and progression of AMD and its lesions by age and genetic risk alleles for CFH and ARMS2. PMID: 23494043
  73. A strong association was demonstrated between all stages of AMD and genetic variation in ARMS2, and a significant gene-environment interaction with cigarette smoking was confirmed. PMID: 23098369
  74. The prevalence of reticular pseudodrusen was low in PCV cases. About 50% of patients with reticular pseudodrusen had bilateral late AMD. The connection of ARMS2 risk allele and reticular pseudodrusen was confirmed in a Japanese population. PMID: 23111182
  75. CFH, ARMS2, and CFB AMD-risk alleles are consistently associated with the disease, even in ethnic groups with a complex admixture of ancestral populations such as Mexican mestizos. PMID: 23112567
  76. A cumulative effect of high-risk alleles in CFH, ARMS2, and VEGFA seems to be associated with a younger age of onset in combination with poor response rates to ranibizumab treatment. PMID: 22840423
  77. ARMS2/HTRA1 risk genotype may play a role in determining neovascular subphenotype, whereas genetics/demographics, smoking, and systemic health factors contribute to the development of advanced AMD in the presence of early AMD. PMID: 22487577
  78. The rs754203 C allele in the CYP46A1 gene may confer a higher risk for exudative age-related macular degeneration in patients who carry no risk alleles in the CFH and LOC387715 genes. PMID: 22977134
  79. Two variants in ARMS2/HTRA1 were associated with increased risk of early AMD, and for one of these, the increased risk was also evident for late AMD. PMID: 23060141
  80. The ARMS2 A69S substitution may serve as a marker for bilateral advanced AMD. PMID: 22481475
  81. ARMS2/HTRA1 locus confers increased risk for both advanced age-related macular degeneration subtypes, but imparts greater risk for choroid neovascularization than for geographic atrophy. PMID: 22705344
  82. ARMS2 A69S genotype is associated with second-eye involvement of exudative age-related macular degeneration and with the period between first- and second-eye involvements. PMID: 22809783
  83. TT genotype was associated with very high risk for all types of age-related macular degeneration (ARM), with increasing odds ratios according to the severity of ARM PMID: 22893087
  84. Our findings indicate that CFH (rs1061170) polymorphism impacts significantly on retinal function in early AMD patients. PMID: 22552255
  85. There is a strong and consistent association of the ARMS2/HTRA1 locus with both exudative AMD and PCV, suggesting the two disorders share, at least partially, similar molecular mechanisms. PMID: 22491416
  86. LOC387715 (ARMS2) rs10490924 was the only variant showing a significant difference between polypoidal choroidal vasculopathy and wet age-related macular degeneration. (Review) PMID: 22509112
  87. etiologic role in ARMD of A69S ARMS2 and Y402H CFH gene variants were confirmed in a Polish population for the first time. R38X variant of ARMS2 seems to be protective from wet ARMD PMID: 22293892
  88. The ARMS2 (rs10490924)/HTRA1 (rs11200638) variants are significantly associated with the risk of polypoidal choroidal vasculopathy (PCV) in a Korean population. PMID: 21959923
  89. ARMS2 A69S variant confers a significantly higher risk of neovascular age-related macular degeneration than polypoidal choroidal vasculopathy. PMID: 22219653
  90. showing that Y402H and LOC387715 are associated with age-related macular degeneration in Turkish population PMID: 21790300
  91. Our investigation of the gene-environment interaction involved in age-related macular degeneration revealed a relationship between a plasma biomarker of oxidative stress, CySS, and CFH genotype. PMID: 22035603
  92. The current study found evidence showing that in age-related macular degeneration risk alleles in CFH and ARMS2 are independently associated with complement activation. PMID: 22133792
  93. The novel ARMS2 splice variant is the major transcript isoform in retina, which is expressed in a higher level in choroid/RPE than in retina. PMID: 22138417
  94. There were significant differences between the controls and the age-related macular degeneration (AMD) patients in genotype distributions. This was true for all AMD subtype analyses of both rs800292 (complement factor H) and rs10490924 (ARMS2). PMID: 22065928
  95. genetic tests that naively incorporate ARMS2 A69S without considering ancestry will consistently give incorrect results to non-Hispanic black individuals. PMID: 22232482
  96. This study did not detect an association between individual age-related macular degeneration risk genotypes and the putatively protective macular pigments, or serum concentrations of its constituent carotenoids PMID: 21816153
  97. The rs800292 variant of the CFH gene is a potential marker for typical choroid neovascularization (CNV). The rs10490924 variant of the ARMS2 gene was shown to be associated with polypoidal CNV. PMID: 21896867
  98. Our results of a negative association between variants of the LOXL1 gene and exudative AMD suggest that the involvement of rs1048661 in the LOXL1 gene as a risk allele for exudative AMD might be small if present. PMID: 21855673
  99. The AMD-associated CFH 402H risk variant is associated with the absence of RMD (reticular macular disease) but enhanced risk for RMD is conferred by the ARMS2 69S AMD risk allele. PMID: 21825189
  100. Our results suggest that rs1048661 in LOXL1 is not implicated in the development of AMD in the Italian population in spite of a very good statistical power to replicate the reported strong associations. PMID: 21784201

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Involvement in disease Macular degeneration, age-related, 8 (ARMD8)
Subcellular Location Cytoplasm
Tissue Specificity Detected in retina and placenta.
Database Links

HGNC: 32685

OMIM: 611313

KEGG: hsa:387715

STRING: 9606.ENSP00000436682

UniGene: Hs.120359

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