|
rs547154
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Allelic frequencies of C2 rs547154 polymorphism between PCV and AMD were also compared.
|
25732348 |
2015 |
|
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 |
|
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 |
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 |
|
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 |
|
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 |
|
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 |