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
|
|
C |
0.900 |
GeneticVariation |
GWASDB |
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
|
20385819 |
2010 |
rs2230199
|
|
C |
0.900 |
GeneticVariation |
GWASDB |
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
|
21665990 |
2011 |
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 |
GWASDB |
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 |
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 |
GWASDB |
Seven new loci associated with age-related macular degeneration.
|
23455636 |
2013 |
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 |
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 |
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 |
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 |
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
|
|
G |
0.900 |
GeneticVariation |
GWASCAT |
Genome-wide analysis of disease progression in age-related macular degeneration.
|
29346644 |
2018 |
rs2230199
|
|
C |
0.900 |
GeneticVariation |
GWASDB |
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
|
22705344 |
2012 |
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
|
|
C |
0.900 |
GeneticVariation |
GWASCAT |
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
|
21665990 |
2011 |
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
|
|
C |
0.900 |
GeneticVariation |
GWASDB |
Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.
|
20861866 |
2010 |
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 |