|
rs9332739
|
C2;CYP21A2;C2-AS1
|
Age related macular degeneration
|
|
0.860 |
GeneticVariation |
BEFREE |
Studies that investigated associations between C2 (rs547154 and rs9332739), C3 (rs1047286), CFB (rs4151667 and rs641153), and CFH (rs551397 and rs2274700) polymorphisms and AMD were identified by searching PubMed, EMBASE, Web of Science, and Cochrane Library databases for articles published prior to January 1, 2018.
|
30179527 |
2018 |
|
rs9332739
|
C2;CYP21A2;C2-AS1
|
Age related macular degeneration
|
|
0.860 |
GeneticVariation |
BEFREE |
The risk allele frequency for rs9332739 in C2 (AMD, 0.65%, control, 2.03%) and rs4151667 in CFB (AMD, 0.65%, control, 1.78%) was very low.
|
22273503 |
2012 |
|
rs9332739
|
C2;CYP21A2;C2-AS1
|
Age related macular degeneration
|
|
0.860 |
GeneticVariation |
GWASDB |
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
|
22705344 |
2012 |
|
rs9332739
|
C2;CYP21A2;C2-AS1
|
Age related macular degeneration
|
|
0.860 |
GeneticVariation |
GWASDB |
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
|
21665990 |
2011 |
|
rs9332739
|
C2;CYP21A2;C2-AS1
|
Age related macular degeneration
|
|
0.860 |
GeneticVariation |
GWASCAT |
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
|
21665990 |
2011 |
|
rs9332739
|
C2;CYP21A2;C2-AS1
|
Age related macular degeneration
|
|
0.860 |
GeneticVariation |
BEFREE |
Although the E318D and L9H variants have shown association with AMD in previous studies, the findings were not in agreement.
|
18806293 |
2009 |
|
rs9332739
|
C2;CYP21A2;C2-AS1
|
Age related macular degeneration
|
|
0.860 |
GeneticVariation |
BEFREE |
We performed an association analysis between PCV and polymorphisms across the C2-CFB-RDBP-SKIV2L region in a Japanese population, genotyping 13 single nucleotide polymorphisms (SNPs) spanning this region, including rs9332739 (E318D), rs547154, rs4151667 (L9H), and rs641153 (R32Q) that are known to be associated with age-related macular degeneration (AMD).
|
19556007 |
2009 |
|
rs9332739
|
C2;CYP21A2;C2-AS1
|
Age related macular degeneration
|
|
0.860 |
GeneticVariation |
BEFREE |
Three SNPs in CC2 and CFB were strongly associated with decreased risk of AMD in the case-control data set (CC2 E318D: P = 0.02; CC2 rs547154: P = 9 x 10(-6); and CFB R32Q P = 2 x 10(-5)).
|
17576744 |
2007 |
|
rs9332739
|
C2;CYP21A2;C2-AS1
|
Age related macular degeneration
|
|
0.860 |
GeneticVariation |
BEFREE |
The L9H variant of BF and the E318D variant of C2 (H10), as well as a variant in intron 10 of C2 and the R32Q variant of BF (H7), confer a significantly reduced risk of AMD (odds ratio = 0.45 and 0.36, respectively).
|
16518403 |
2006 |
|
rs9380272
|
C2;CYP21A2;C2-AS1
|
Age related macular degeneration
|
A |
0.800 |
GeneticVariation |
GWASCAT |
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
|
20385819 |
2010 |
|
rs9380272
|
C2;CYP21A2;C2-AS1
|
Age related macular degeneration
|
A |
0.800 |
GeneticVariation |
GWASDB |
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
|
20385819 |
2010 |
|
rs544167
|
C2;CYP21A2
|
Age related macular degeneration
|
|
0.700 |
GeneticVariation |
GWASDB |
Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
|
23577725 |
2013 |
|
rs1042663
|
C2;CYP21A2;C2-AS1
|
Age related macular degeneration
|
|
0.700 |
GeneticVariation |
GWASDB |
Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.
|
22694956 |
2012 |
|
rs550605
|
C2;CYP21A2;C2-AS1
|
Age related macular degeneration
|
|
0.700 |
GeneticVariation |
GWASDB |
Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.
|
22694956 |
2012 |
|
rs547154
|
C2;CYP21A2;C2-AS1
|
Age related macular degeneration
|
|
0.100 |
GeneticVariation |
BEFREE |
We found associations with nvAMD for <i>CFHY402H</i> variant (rs1061170) (OR=1.99, 95% CI 1.67 to 2.37, P=10<sup>-6</sup>), <i>ARMS2</i> (rs10490924) (OR=2.94, 95% CI 2.45 to 3.52, P=10<sup>-9</sup>), <i>C2</i> (rs547154) (OR=0.67, 95% CI 0.53 to 0.85, P=0.01), <i>ABCA1</i> (rs1883025) (OR=0.77, 95% CI 0.65 to 0.92, P=0.04) and an SNP near <i>VEGFA</i> (rs4711751) (OR=0.64, 95% CI 0.54 to 0.77, P=10<sup>-3</sup>).
|
29259020 |
2018 |
|
rs547154
|
C2;CYP21A2;C2-AS1
|
Age related macular degeneration
|
|
0.100 |
GeneticVariation |
BEFREE |
In this post hoc analysis of cross-sectional data from US participants in the Comparison of AMD Treatments Trials, genotyping was performed in 835 participants with TaqMan assays for the SNPs rs1061170 (Y402H variant in CFH), rs800292 (I62V variant in CFH), rs10490924 (A69S variant in ARMS2), rs11200638 (HTRA1), rs547154 (C2), rs2230199 (R102G variant in C3), rs10468017 (LIPC), and rs4151667 (L9H variant in CFB).
|
29801032 |
2018 |
|
rs547154
|
C2;CYP21A2;C2-AS1
|
Age related macular degeneration
|
|
0.100 |
GeneticVariation |
BEFREE |
Studies that investigated associations between C2 (rs547154 and rs9332739), C3 (rs1047286), CFB (rs4151667 and rs641153), and CFH (rs551397 and rs2274700) polymorphisms and AMD were identified by searching PubMed, EMBASE, Web of Science, and Cochrane Library databases for articles published prior to January 1, 2018.
|
30179527 |
2018 |
|
rs547154
|
C2;CYP21A2;C2-AS1
|
Age related macular degeneration
|
|
0.100 |
GeneticVariation |
BEFREE |
Allelic frequencies of C2 rs547154 polymorphism between PCV and AMD were also compared.
|
25732348 |
2015 |
|
rs547154
|
C2;CYP21A2;C2-AS1
|
Age related macular degeneration
|
|
0.100 |
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 |
|
rs547154
|
C2;CYP21A2;C2-AS1
|
Age related macular degeneration
|
|
0.100 |
GeneticVariation |
BEFREE |
The SKIV2L SNPs rs429608 and rs453821 were significantly associated with neovascular AMD (P = 7.39 × 10(-5); odds ratio [OR], 0.22; 95% confidence interval [CI], 0.10-0.50; and P = 0.001; OR, 0.38; 95% CI, 0.21-0.70, respectively), whereas borderline associations were detected for C2 rs547154 (P = 0.002) and RDBP rs760070 (P = 0.003).
|
23260260 |
2013 |
|
rs547154
|
C2;CYP21A2;C2-AS1
|
Age related macular degeneration
|
|
0.100 |
GeneticVariation |
BEFREE |
C2 rs547154 and CFB rs541862 were significantly associated with typical AMD and PCV in this Japanese sample (P < 0.05).
|
22232432 |
2012 |
|
rs547154
|
C2;CYP21A2;C2-AS1
|
Age related macular degeneration
|
|
0.100 |
GeneticVariation |
BEFREE |
The risk allele frequencies for rs547154 in C2 were 6.54% and 8.12% in AMD patients and controls.
|
22273503 |
2012 |
|
rs547154
|
C2;CYP21A2;C2-AS1
|
Age related macular degeneration
|
|
0.100 |
GeneticVariation |
BEFREE |
The results of the present study provide an independent validation of the association of rs547154 (C2) and rs641153 (CFB) SNPs with reduced risk of AMD in an Indian cohort.
|
19696172 |
2010 |
|
rs547154
|
C2;CYP21A2;C2-AS1
|
Age related macular degeneration
|
|
0.100 |
GeneticVariation |
BEFREE |
Four AMD-associated haplotype-tagging alleles (rs547154, rs1061170, rs1410996, rs10490924) in the 3 major loci, CFH, CFB/C2, and ARMS2/HTRA1, also were statistically significantly associated with the PCV phenotype (P<0.05).
|
20378180 |
2010 |
|
rs547154
|
C2;CYP21A2;C2-AS1
|
Age related macular degeneration
|
|
0.100 |
GeneticVariation |
BEFREE |
The C2 and BF genes indicated significant association with AMD of only two SNPs; rs547154 (IVS10) in the C2 gene (P=9.1 x 10(-5)) and rs641153 (R32Q) in the BF gene (P=7.0 x 10(-5)).
|
18806293 |
2009 |