|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
1093 patients with exudative AMD and 396 controls have been recruited and genotyped for the Y402H of CFH, rs10490924 of ARMS2 and T280M of the CX3CR1 gene.
|
21621535 |
2011 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Age-related macular degeneration is a leading form of blindness in Western countries and is associated with a common SNP (rs 1061170/Y402H) in the Factor H gene, which encodes the two complement inhibitors Factor H and FHL1.
|
21930971 |
2011 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
AMD individuals who had at least one copy of the C allele of rs1061170 had an increased risk of disease compared with cases with the T allele.
|
25612476 |
2016 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Y402H polymorphism which has been suggested to be a major risk factor of AMD in Caucasians was found to be only marginally associated with exudative AMD with low frequency, whereas three adjacent SNPs in the CFH gene were significantly associated with AMD in Koreans.
|
18223247 |
2008 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
rs1061170 might be associated with treatment response of neovascular AMD, especially for the anti-VEGF agents.
|
22905135 |
2012 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Y402H polymorphism in complement factor H and age-related macular degeneration in the Tunisian population.
|
23306536 |
2013 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A 6.7-fold increased odds of AMD (95% CI, 1.6-28.2) was observed among women with deficient vitamin D status (25[OH]D <12 ng/mL) and 2 risk alleles for CFH Y402H (SI for additive interaction, 1.4; 95% CI, 1.1-1.7; P for multiplicative interaction = .25).
|
26312598 |
2015 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A Tyr402His variant in exon 9 in the complement factor H (CFH) gene was also significantly associated with ARM in the case-control allele (P<0.0001), case-control genotype (P<0.0001) and case-control family (P<0.0001) tests.
|
15930014 |
2005 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A combination of elevated CRP and the CC (Y402H) genotype resulted in a super-additivity of the risks, with odds ratios of 19.3 (95% CI, 2.8-134) for late AMD, and 6.8 (95% CI, 1.2-38.8) for AMD progression, with the attributable proportion of risk owing to CRP-CFH interaction calculated at 26% for prevalent late AMD and 22% for AMD progression.
|
20605213 |
2010 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A common polymorphism in the complement factor H gene (rs1061170, Y402H) is associated with a high risk of age-related macular degeneration (AMD).
|
23596508 |
2013 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A FH Tyr402His polymorphism in SCR-7 is associated with age-related macular degeneration (AMD) and leads to deposition of complement in drusen.
|
20711705 |
2010 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A human induced pluripotent stem cell (hiPSC) line was derived from peripheral blood mononuclear cells (PBMCs) from a patient with a clinical diagnosis of dry AMD carrying the CFH Y402H polymorphism.
|
31176916 |
2019 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A large number of human genetic studies have associated a common variant (Y402H) of complement factor H (CFH) with a highly significant increase in AMD risk.
|
17580967 |
2007 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A meta-analysis of eight studies assessing association between the CFH Y402H polymorphism and AMD was performed.
|
16905558 |
2006 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A non-synonymous SNP (rs1061170/Y402H) in CFH encoding complement factor H (fH) is robustly associated with increased AMD risk but associations with CHD risk have been inconsistent.
|
20708732 |
2010 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A polymorphism in the CFH gene, Y402H, known to be strongly associated with age-related macular degeneration, has been analyzed in relation to coronary artery disease (CAD) in several studies with conflicting results.
|
17396242 |
2007 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A prospective assessment of the Y402H variant in complement factor H, genetic variants in C-reactive protein, and risk of age-related macular degeneration.
|
16723442 |
2006 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A sensitivity analysis of genetic variants known to be associated with late stage AMD showed that rs1061170 (p.Y402H) in the complement factor H (CFH) gene influences the association of Cer d18:1/16:0 with GA. To understand the possible influence of this genetic variant on ceramide levels, we established a cell-based assay to test the modulation of genes in the ceramide metabolism by factor H-like protein 1 (FHL-1), an alternative splicing variant of CFH that also harbors the 402 residue.
|
30071029 |
2018 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
A total of 1,080 patients with exudative AMD and 406 controls were recruited and genotyped for Y402H of complement factor H (CFH), rs10490924 of age-related maculopathy susceptibility 2 (ARMS2), and R102G of the C3 gene.
|
20664795 |
2010 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Abnormal regulation of the complement system likely caused by the Y402H polymorphism in the complement factor H gene is a recognized risk factor for AMD, as is the A69S variant in the poorly characterized LOC387715 gene.
|
17576744 |
2007 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
After adjusting for CFH Y402H genotype, age, sex and smoking history, the level of sTNFRII remained a significant predictor for prevalence of AMD with odds ratios at 3.0 in the middle and 3.6 in the highest tertiles.
|
25363549 |
2015 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
After controlling for environmental risk factors, CFH and HTRA1 SNPs were independently associated with exudative AMD, with OR of 3.50 (1.45 - 8.45) for CT genotype in Y402H, 3.34 (1.33 - 8.36) for GG genotype in rs1410996 and 3.85 (1.58 - 9.42) for AA genotype in rs11200638 respectively.
|
19187590 |
2008 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
After multivariate adjustment, CFH Y402H and ARMS2 A69S polymorphisms were associated with very high risk for exudative AMD (OR = 6.21 and OR = 11.7, respectively, p < 0.0001).
|
24362810 |
2014 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
AG genotype of CCL2-2518 in combination with TT genotype of CFH Y402H showed significant protective effect against AMD.
|
27316788 |
2016 |
|
rs1061170
|
|
Age related macular degeneration
|
|
0.900 |
GeneticVariation
|
BEFREE |
Allele and genotype frequencies of single nucleotide polymorphisms for the following AMD-associated alleles were evaluated: risk alleles in complement factor H (CFH) gene (Y402H and IVS14) and LOC387715/HTRA1 gene on 10q26 (A69S) and protective alleles in CFH (IVS1, IVS6, and delCFHR1-3) and complement factor B loci (H9L and R32Q).
|
19001225 |
2008 |