C3, complement C3, 718

N. diseases: 343; N. variants: 49
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2230199
rs2230199
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration
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
dbSNP: rs2230199
rs2230199
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration
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
dbSNP: rs2230199
rs2230199
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration
G 0.900 GeneticVariation GWASCAT Genome-wide analysis of disease progression in age-related macular degeneration. 29346644 2018
dbSNP: rs2230199
rs2230199
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration
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
dbSNP: rs2230199
rs2230199
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration
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
dbSNP: rs2230199
rs2230199
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration
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
dbSNP: rs2230199
rs2230199
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration
0.900 GeneticVariation GWASCAT A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. 26691988 2016
dbSNP: rs2230199
rs2230199
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration
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
dbSNP: rs2230199
rs2230199
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration
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
dbSNP: rs2230199
rs2230199
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration
0.900 GeneticVariation BEFREE In conclusion, our meta-analysis provides evidence that the rs2230199 polymorphism contributes to the development of AMD. 26505407 2015
dbSNP: rs2230199
rs2230199
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration
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
dbSNP: rs2230199
rs2230199
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration
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
dbSNP: rs2230199
rs2230199
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration
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
dbSNP: rs2230199
rs2230199
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration
0.900 GeneticVariation GWASDB Seven new loci associated with age-related macular degeneration. 23455636 2013
dbSNP: rs2230199
rs2230199
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration
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
dbSNP: rs2230199
rs2230199
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration
C 0.900 GeneticVariation GWASCAT Seven new loci associated with age-related macular degeneration. 23455636 2013
dbSNP: rs2230199
rs2230199
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration
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
dbSNP: rs2230199
rs2230199
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration
C 0.900 GeneticVariation GWASDB Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes. 22705344 2012
dbSNP: rs2230199
rs2230199
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration
C 0.900 GeneticVariation GWASDB Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. 21665990 2011
dbSNP: rs2230199
rs2230199
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration
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
dbSNP: rs2230199
rs2230199
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration
C 0.900 GeneticVariation GWASCAT Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. 21665990 2011
dbSNP: rs2230199
rs2230199
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration
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
dbSNP: rs2230199
rs2230199
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration
C 0.900 GeneticVariation GWASDB Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. 20385819 2010
dbSNP: rs2230199
rs2230199
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration
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
dbSNP: rs2230199
rs2230199
Entrez Id: 718
Gene Symbol: C3
C3
CUI: C0242383
Disease:
Age related macular degeneration
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