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 |
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 |
rs2230199
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Genotyping was performed for the Y402H variant of CFH, for the L9H, R32Q, and K565E variants of CFB, the E318D variant of C2, the A69S variant of ARMS2, and the R102G variant of C3 in 159 Mexican mestizo patients at advanced stages of AMD, i.e., CARMS (Clinical Age-Related Maculopathy Staging System) grade 4 or 5.
|
23112567 |
2012 |
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 |
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 |
rs2230199
|
|
|
0.900 |
GeneticVariation |
BEFREE |
For rs2230199, patients with CG and GG genotypes were 1.44 (95% confidence interval (CI): 1.33, 1.56) and 1.88 (95% CI: 1.59, 2.23) times more likely to have AMD than patients with the CC genotype.
|
21576320 |
2011 |
rs2230199
|
|
|
0.900 |
GeneticVariation |
BEFREE |
No interaction was found between rs2230199 and smoking or other AMD loci.
|
19234341 |
2009 |
rs2230199
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In contrast, the C3 variants rs2230199 and rs1047286 were not associated with exudative AMD in the studied subjects.
|
19850835 |
2010 |
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 variant C3-rs2230199 showed no relation with AMD progression.
|
19797206 |
2010 |
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 |
However, the risk allele is absent or rare (<1%) in Japanese and Chinese populations, and the association of R102G with AMD has not been reported in Asian populations.
|
22174912 |
2011 |
rs2230199
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The G allele of the C3 IVS2 rs2250656, but not other tested C3 SNPs of rs2230205, rs10411506, rs2230199, rs339392, and rs163913, was significantly associated with a reduced risk for AMD in the Chinese population (OR 0.605, 95% CI 0.39-0.93, p = 0.023), even after adjusting for age, gender, smoking status, CFH rs1061170, CFB rs4151667, and CFB rs641153 allele status (OR 0.58, 95% CI 0.35-0.96, p = 0.033).
|
19899988 |
2009 |
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 |
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 |
In conclusion, our meta-analysis provides evidence that the rs2230199 polymorphism contributes to the development of AMD.
|
26505407 |
2015 |
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 |
rs2230199
|
|
|
0.900 |
GeneticVariation |
GWASCAT |
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
|
20385826 |
2010 |
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 |
rs2230199
|
|
G |
0.900 |
GeneticVariation |
GWASCAT |
Genome-wide analysis of disease progression in age-related macular degeneration.
|
29346644 |
2018 |
rs2230199
|
|
C |
0.900 |
GeneticVariation |
GWASCAT |
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
|
21665990 |
2011 |
rs2230199
|
|
C |
0.900 |
GeneticVariation |
GWASCAT |
Seven new loci associated with age-related macular degeneration.
|
23455636 |
2013 |
rs2230199
|
|
C |
0.900 |
GeneticVariation |
GWASCAT |
Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.
|
20861866 |
2010 |