|
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 |
|
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 |
|
rs2230199
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Prevalence of AMD-associated genetic risk variants, complement factor H (CFH) rs1061170, age-related maculopathy susceptibility 2 (ARMS2) rs10490924, component 3 (C3) rs2230199, complement factor B (CFB) rs641153 and superkiller viralicidic activity 2-like (SKIV2L) rs429608 and 4-year progression data in a population-representative cohort (The Irish Longitudinal study on Ageing (TILDA)) were assessed.
|
29453225 |
2018 |
|
rs147859257
|
|
|
0.720 |
GeneticVariation |
BEFREE |
We explored the occurrence of seven rare variants independently associated with AMD (<i>CFH</i> rs121913059 (p.Arg1210Cys), <i>CFI</i> rs141853578 (p.Gly119Arg), <i>C3</i> rs147859257 (p.Lys155Gln), and <i>C9</i> rs34882957 (p.Pro167Ser)) and three non-coding variants in or near the <i>CFH</i> gene (rs148553336, rs35292876, and rs191281603) in 24 AMD case-control studies.
|
29410599 |
2018 |
|
rs2230199
|
|
G |
0.900 |
GeneticVariation |
GWASCAT |
Genome-wide analysis of disease progression in age-related macular degeneration.
|
29346644 |
2018 |
|
rs2230199
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We have previously shown a strong association of C3 (R102G) and CFH Y402H with AMD whereas no association was found for CCL2-2518.
|
28095095 |
2017 |
|
rs2230199
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The distribution of the R102G genotypes was significantly different in the AMD patients compared to controls (p = 0.001).The Odds Ratio compared to CC individuals was 1.69 (95% CI 1.15-2.49) for GC individuals and 6.48 (95% CI1.87-22.43) for GG individuals.
|
27029644 |
2017 |
|
rs2230199
|
|
|
0.900 |
GeneticVariation |
GWASCAT |
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
|
26691988 |
2016 |
|
rs147859257
|
|
|
0.720 |
GeneticVariation |
GWASCAT |
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
|
26691988 |
2016 |
|
rs2230199
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In conclusion, our meta-analysis provides evidence that the rs2230199 polymorphism contributes to the development of AMD.
|
26505407 |
2015 |
|
rs2230199
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The associations of IL-8 rs4073 A→T, CFH rs1061170 T→C, ARMS2 rs10490924 G→T and C3 rs2230199 C→G SNPs with the presence of AMD and with the age of onset of exudative AMD were analysed.
|
26154559 |
2015 |
|
rs2230199
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Significantly positive associations were found for the rs2230199 C/G SNP and AMD in the Caucasian population, as well as for the rs1047286 C/T SNP.
|
25688879 |
2015 |
|
rs1047286
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Significantly positive associations were found for the rs2230199 C/G SNP and AMD in the Caucasian population, as well as for the rs1047286 C/T SNP.
|
25688879 |
2015 |
|
rs2250656
|
|
|
0.020 |
GeneticVariation |
BEFREE |
By contrast, a negative association was observed between rs2250656 A/G SNP and AMD risk.
|
25688879 |
2015 |
|
rs11569536
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, a relationship between the rs11569536 G/A SNP and AMD was detected.
|
25688879 |
2015 |
|
rs147859257
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Common variants in the complement component 3 (C3) gene have been associated with AMD and recently a rare C3 variant (Lys155Gln) was identified which exerts a large effect on AMD susceptibility independent of the common variants.
|
24736606 |
2014 |
|
rs117793540
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Overall, we identified three rare variants (Lys65Gln (P=0.04), Arg735Trp (OR=17.4, 95% CI=2.2-136; P=0.0003), and Ser1619Arg (OR=5.2, 95% CI=1.0-25; P=0.05) at the C3 locus that are associated with AMD in our EUGENDA cohort.
|
24736606 |
2014 |
|
rs2230210
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Overall, we identified three rare variants (Lys65Gln (P=0.04), Arg735Trp (OR=17.4, 95% CI=2.2-136; P=0.0003), and Ser1619Arg (OR=5.2, 95% CI=1.0-25; P=0.05) at the C3 locus that are associated with AMD in our EUGENDA cohort.
|
24736606 |
2014 |
|
rs539992721
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Overall, we identified three rare variants (Lys65Gln (P=0.04), Arg735Trp (OR=17.4, 95% CI=2.2-136; P=0.0003), and Ser1619Arg (OR=5.2, 95% CI=1.0-25; P=0.05) at the C3 locus that are associated with AMD in our EUGENDA cohort.
|
24736606 |
2014 |
|
rs2230199
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Higher C3d/C3 ratios were found for current smoker (p = 0.002), higher age (p = 1.56 × 10(-7)), AMD phenotype (p = 1.15 × 10(-11)) and the two SNPs in the C3 gene rs6795735 (p = 0.04) and rs2230199 (p = 0.04).
|
24675670 |
2014 |
|
rs2230199
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The frequency of the rs2230199 G allele (minor allele) was significantly higher in patients with AMD in comparison with controls (0.34 vs 0.22, p = 0.0031) and similar to the frequency of other reported populations.
|
24519512 |
2014 |
|
rs2230199
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The risk alleles in C3 (rs1047286, odds ratio [OR]=2.48, 95% confidence interval [CI]=1.64-3.75, p=1.59E-05; rs2230199, OR=2.15, 95% CI=1.48-3.13, p=6.28E-05) and in ARMS2 (rs10490924, OR=3.09, 95% CI=2.48-3.86, p=5.42E-23) were strongly associated with risk of AMD.
|
24453474 |
2014 |
|
rs1047286
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The risk alleles in C3 (rs1047286, odds ratio [OR]=2.48, 95% confidence interval [CI]=1.64-3.75, p=1.59E-05; rs2230199, OR=2.15, 95% CI=1.48-3.13, p=6.28E-05) and in ARMS2 (rs10490924, OR=3.09, 95% CI=2.48-3.86, p=5.42E-23) were strongly associated with risk of AMD.
|
24453474 |
2014 |
|
rs2230199
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (rs800292, rs3766404, rs1061170, rs2274700 and rs393955), HTRA1 (rs11200638), CFHR1-5 (rs10922153, rs16840639, rs6667243, and rs1853883), LOC387715/ARMS2 (rs3793917 and rs10490924), C3 (rs2230199 and rs1047286), C2 (rs547154), CFB (rs641153) and F13B (rs6003) were examined.
|
23582991 |
2013 |
|
rs1047286
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Seventeen single nucleotide polymorphisms (SNPs) in known AMD risk-associated genes including CFH (rs800292, rs3766404, rs1061170, rs2274700 and rs393955), HTRA1 (rs11200638), CFHR1-5 (rs10922153, rs16840639, rs6667243, and rs1853883), LOC387715/ARMS2 (rs3793917 and rs10490924), C3 (rs2230199 and rs1047286), C2 (rs547154), CFB (rs641153) and F13B (rs6003) were examined.
|
23582991 |
2013 |