|
rs2230199
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In our series, the genotype GG of C3 rs2230199 was more significantly associated with the phenotype of large vascularized pigment epithelial detachment poorly responding to anti-vascular endothelial growth factor therapy than in global AMD series.
|
30681643 |
2020 |
|
rs10490924
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A significant genotype and variant allele association was found of rs10490924 in ARMS2/HTRA1 with wet AMD, while the SNPs in CFH, CFB, and C3 were not associated with AMD in the current Pakistani cohort.
|
30895599 |
2019 |
|
rs10490924
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Before the AMD clinical phenotype is present, those showing normal macular health with the ARMS2 A69S allele demonstrate delayed RMDA.
|
30389424 |
2019 |
|
rs10490924
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Comparison of ARMS2/LOC387715 A69S and CFH Y402H risk effect in wet-type age-related macular degeneration: a meta-analysis.
|
29423786 |
2019 |
|
rs10490924
|
|
|
0.900 |
GeneticVariation |
BEFREE |
However, weak correlations between 10 SNPs (CFH rs1329428 TT genotype, CFH rs3753394 CC genotype and T allele, CFH rs1410996 AA genotype, CFH rs800292 AA genotype, CFH rs800292 A allele, VEGF rs833061 TT genotype and C allele, VEGF rs2010963 CG genotype, VEGFR2 rs1531289 TT genotype, ARMS2 rs10490924 TT genotype, KCTD10 rs238104 GC genotype, rs1531289 T allele and ARMS2 rs10490924 T allele) and AMD were shown.
|
30696427 |
2019 |
|
rs1061170
|
|
|
0.900 |
GeneticVariation |
BEFREE |
To understand the involvement of the Y402H polymorphism in AMD, we leverage methods from bioinformatics and computational biophysics to quantify structural and dynamical differences between SCR7 isoforms that contribute to decreased pattern recognition in SCR7<sup>H402</sup>.
|
30616835 |
2019 |
|
rs1061170
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The aim of this study was to compare the functional and morphological 1-year evolution of patients with exudative AMD treated with antivascular endothelial growth factor (VEGF) drugs with the CFH Y402H polymorphism in the Brazilian population.
|
28641277 |
2019 |
|
rs1061170
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Associations of microRNAs, Angiogenesis-Regulating Factors and CFH Y402H Polymorphism-An Attempt to Search for Systemic Biomarkers in Age-Related Macular Degeneration.
|
31731799 |
2019 |
|
rs1061170
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Comparison of ARMS2/LOC387715 A69S and CFH Y402H risk effect in wet-type age-related macular degeneration: a meta-analysis.
|
29423786 |
2019 |
|
rs1061170
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The major risk to develop AMD is the Y402H polymorphism of complement factor H (CFH).
|
31554875 |
2019 |
|
rs1061170
|
|
|
0.900 |
GeneticVariation |
BEFREE |
To evaluate the efficacy of using a CRISPR/Cas-mediated strategy to correct a common high-risk allele that is associated with age-related macular degeneration (AMD; rs1061170; NM_000186.3:c.1204T>C; NP_000177.2:p.His402Tyr) in the complement factor H <i>(CFH)</i> gene.
|
30996586 |
2019 |
|
rs1061170
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Our work provides a more comprehensive meta-analysis of studies investigating the effect of the CFH rs1061170 polymorphism on AMD risk.
|
30280493 |
2019 |
|
rs1061170
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A human induced pluripotent stem cell (hiPSC) line was derived from peripheral blood mononuclear cells (PBMCs) from a patient with a clinical diagnosis of dry AMD carrying the CFH Y402H polymorphism.
|
31176916 |
2019 |
|
rs11200638
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The haplotypes constructed of rs3793784-rs11200638 were found to be associated with AMD development, as well.
|
31583032 |
2019 |
|
rs1410996
|
|
|
0.900 |
GeneticVariation |
BEFREE |
However, weak correlations between 10 SNPs (CFH rs1329428 TT genotype, CFH rs3753394 CC genotype and T allele, CFH rs1410996 AA genotype, CFH rs800292 AA genotype, CFH rs800292 A allele, VEGF rs833061 TT genotype and C allele, VEGF rs2010963 CG genotype, VEGFR2 rs1531289 TT genotype, ARMS2 rs10490924 TT genotype, KCTD10 rs238104 GC genotype, rs1531289 T allele and ARMS2 rs10490924 T allele) and AMD were shown.
|
30696427 |
2019 |
|
rs2230199
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Nineteen single nucleotide polymorphisms (SNPs) previously associated with AMD, including rs10490924 (<i>ARMS2/HTRA1</i>), rs10737680 (<i>CFH</i>), rs13278062 (<i>TNFRSF10A</i>), rs1864163 (<i>CETP</i>), rs2230199 (<i>C3</i>), rs3130783 (<i>IER3/DDR1</i>), rs334353 (<i>TGFBR1</i>), rs3812111 (<i>COL10A1</i>), rs429608 (<i>C2/CFB</i>), rs4420638 (<i>APOE</i>), rs4698775 (<i>CFI</i>), rs5749482 (<i>TIMP3</i>), rs6795735 (<i>ADAMTS9</i>), rs8017304 (<i>RAD51B</i>), rs8135665 (<i>SLC16A8</i>), rs920915 (<i>LIPC</i>), rs943080 (<i>VEGFA</i>), rs9542236 (<i>B3GALTL</i>) and rs13081855 (<i>COL8A1/FILIP1L</i>), were genotyped in this cohort.
|
31819893 |
2019 |
|
rs641153
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Collectively, we demonstrated that the complement factor B genes rs641153 and rs4151667, but not rs1048709, rs2072633, rs12614, were associated with the susceptibility of age-related macular degeneration and might play predictive roles in future age-related macular degeneration diagnosis.
|
30974970 |
2019 |
|
rs800292
|
|
|
0.900 |
GeneticVariation |
BEFREE |
However, weak correlations between 10 SNPs (CFH rs1329428 TT genotype, CFH rs3753394 CC genotype and T allele, CFH rs1410996 AA genotype, CFH rs800292 AA genotype, CFH rs800292 A allele, VEGF rs833061 TT genotype and C allele, VEGF rs2010963 CG genotype, VEGFR2 rs1531289 TT genotype, ARMS2 rs10490924 TT genotype, KCTD10 rs238104 GC genotype, rs1531289 T allele and ARMS2 rs10490924 T allele) and AMD were shown.
|
30696427 |
2019 |
|
rs10468017
|
|
|
0.890 |
GeneticVariation |
BEFREE |
The frequency of the allele T of rs10468017 (LIPC gene) was lower in dry AMD cases compared to controls (15.8 versus 27.9%, respectively: p = 8.4 × 10<sup>-3</sup> OR = 0.57, 95% CI: 0.33-0.98).
|
31654486 |
2019 |
|
rs10468017
|
|
|
0.890 |
GeneticVariation |
BEFREE |
The study showed that LIPC rs493258 gene and haplotype containing the two minor alleles T-T in rs10468017-rs493258 may decrease AMD development.
|
30399423 |
2019 |
|
rs429608
|
|
|
0.870 |
GeneticVariation |
BEFREE |
Nineteen single nucleotide polymorphisms (SNPs) previously associated with AMD, including rs10490924 (<i>ARMS2/HTRA1</i>), rs10737680 (<i>CFH</i>), rs13278062 (<i>TNFRSF10A</i>), rs1864163 (<i>CETP</i>), rs2230199 (<i>C3</i>), rs3130783 (<i>IER3/DDR1</i>), rs334353 (<i>TGFBR1</i>), rs3812111 (<i>COL10A1</i>), rs429608 (<i>C2/CFB</i>), rs4420638 (<i>APOE</i>), rs4698775 (<i>CFI</i>), rs5749482 (<i>TIMP3</i>), rs6795735 (<i>ADAMTS9</i>), rs8017304 (<i>RAD51B</i>), rs8135665 (<i>SLC16A8</i>), rs920915 (<i>LIPC</i>), rs943080 (<i>VEGFA</i>), rs9542236 (<i>B3GALTL</i>) and rs13081855 (<i>COL8A1/FILIP1L</i>), were genotyped in this cohort.
|
31819893 |
2019 |
|
rs493258
|
|
|
0.860 |
GeneticVariation |
BEFREE |
The study showed that LIPC rs493258 gene and haplotype containing the two minor alleles T-T in rs10468017-rs493258 may decrease AMD development.
|
30399423 |
2019 |
|
rs10033900
|
|
|
0.840 |
GeneticVariation |
BEFREE |
Con-clusion: CFI rs10033900 and rs2285714 polymorphisms in a Turkish population were not associated with AMD.
|
31614353 |
2019 |
|
rs10033900
|
|
|
0.840 |
GeneticVariation |
BEFREE |
To determine the impact of <i>HTRA1</i> rs1120638, <i>TIMP3</i> rs9621532, <i>VEGFA</i> rs833068, <i>CFI</i> rs10033900, <i>ERCC6</i> rs3793784, and <i>KCTD10</i> rs56209061 genotypes on the development of age-related macular degeneration (AMD) in the Lithuanian population.
|
31583032 |
2019 |
|
rs943080
|
|
|
0.840 |
GeneticVariation |
BEFREE |
Nineteen single nucleotide polymorphisms (SNPs) previously associated with AMD, including rs10490924 (<i>ARMS2/HTRA1</i>), rs10737680 (<i>CFH</i>), rs13278062 (<i>TNFRSF10A</i>), rs1864163 (<i>CETP</i>), rs2230199 (<i>C3</i>), rs3130783 (<i>IER3/DDR1</i>), rs334353 (<i>TGFBR1</i>), rs3812111 (<i>COL10A1</i>), rs429608 (<i>C2/CFB</i>), rs4420638 (<i>APOE</i>), rs4698775 (<i>CFI</i>), rs5749482 (<i>TIMP3</i>), rs6795735 (<i>ADAMTS9</i>), rs8017304 (<i>RAD51B</i>), rs8135665 (<i>SLC16A8</i>), rs920915 (<i>LIPC</i>), rs943080 (<i>VEGFA</i>), rs9542236 (<i>B3GALTL</i>) and rs13081855 (<i>COL8A1/FILIP1L</i>), were genotyped in this cohort.
|
31819893 |
2019 |