rs9332739
|
|
|
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 |
rs757537938
|
|
|
0.030 |
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 |
rs9332739
|
|
|
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 |
rs547154
|
|
|
0.100 |
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 |
rs757537938
|
|
|
0.030 |
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 |
rs547154
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We investigated two SNPs in C2 and two in CFB in independent case-control and family cohorts of white subjects and found rs547154, an intronic SNP in C2, to be significantly associated with ARM in both our case-control (P-value 0.00007) and family data (P-value 0.00001).
|
18493315 |
2008 |
rs9332739
|
|
|
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
|
|
|
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 |
rs547154
|
|
|
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 |
rs547154
|
|
|
0.100 |
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 |
rs757537938
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Although the E318D and L9H variants have shown association with AMD in previous studies, the findings were not in agreement.
|
18806293 |
2009 |
rs9380272
|
|
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
|
|
A |
0.800 |
GeneticVariation |
GWASDB |
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
|
20385819 |
2010 |
rs547154
|
|
|
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
|
|
|
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 |
rs9332739
|
|
|
0.860 |
GeneticVariation |
GWASDB |
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
|
21665990 |
2011 |
rs9332739
|
|
|
0.860 |
GeneticVariation |
GWASCAT |
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
|
21665990 |
2011 |
rs9332739
|
|
|
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
|
|
|
0.860 |
GeneticVariation |
GWASDB |
Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
|
22705344 |
2012 |
rs1042663
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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 |