rs1061170, CFH

N. diseases: 72
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.010 GeneticVariation BEFREE Significant allelic associations with SLE were detected in European Americans (EA) and African Americans (AA), which could be attributed to an intronic CFH SNP (rs6677604, in intron 11, P(meta) = 6.6×10(-8), OR = 1.18) and an intergenic SNP between CFHR1 and CFHR4 (rs16840639, P(meta) = 2.9×10(-7), OR = 1.17) rather than to previously identified disease-associated CFH exonic SNPs, including I62V, Y402H, A474A, and D936E. 21637784 2011
Low Vision
CUI: C0042798
Disease: Low Vision
0.010 GeneticVariation BEFREE The common variant in the human complement Factor H gene (CFH), with Tyr402His, is linked to age-related macular degeneration (AMD), a prevalent disorder leading to visual impairment and irreversible blindness in elderly patients. 17399790 2007
Lobular Neoplasia
CUI: C0861352
Disease: Lobular Neoplasia
0.010 GeneticVariation BEFREE Serum CFH autoantibodies and CFH Tyr402His were screened in the 241 LN patients. 22956549 2012
Kidney Failure, Chronic
CUI: C0022661
Disease: Kidney Failure, Chronic
0.010 GeneticVariation BEFREE Multivariate logistic regression analysis showed that Y402H genotype was independently associated with cardiovascular comorbidity in ESRD patients. 19428307 2009
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.010 GeneticVariation BEFREE In contrast to expected results, we found no association of Y402H polymorphism with risk of atherothrombosis (adjusted: myocardial infarction, OR=1.09, 95%CI 0.88-1.36, p=0.43; ischaemic stroke, OR=1.11, 95%CI 0.81-1.54, p=0.52; venous thromboembolism, OR=1.41, 95%CI 0.88-2.24, p=0.15), nor with baseline plasma C-reactive protein levels [median (interquartile range) mg/L: YY, 1.39 (0.70-2.60); YH, 1.10 (0.57-2.16); HH, 1.00 (0.48-1.79); p=0.14]. 16229850 2006
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
0.010 GeneticVariation BEFREE The C3F and Y402H polymorphisms are strong independent predictors of moderate-to-severe neurocognitive dysfunction at 1 day following CEA. 20841369 2011
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.020 GeneticVariation BEFREE Association of the complement factor H Y402H polymorphism with cardiovascular disease is dependent upon hypertension status: The ARIC study. 18292760 2008
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.020 GeneticVariation BEFREE However, no significant association between rs1061170 (Y402H) and blood pressure or hypertension risk was observed (P≥0.259). 22848687 2012
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
0.010 GeneticVariation BEFREE We determined whether or not the Y402H polymorphism influenced CVD risk in a multicentre cohort study involving 2,016 unrelated patients with familial hypercholesterolaemia (FH), who have an extremely increased susceptibility to premature CVD. 19098018 2009
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE The elevated systemic levels of selected proinflammatory cytokines, including those representing products of inflammasome activation, were associated with the CC at-risk variant of the Y402H polymorphism and suggest that genetic factors regulate the inflammatory status in dry AMD patients. 24083687 2013
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE Pooled overall odds ratios for RAP/AMD were 1.15 (95% CI 0.60-2.18) for GT versus GG, 3.52 (95% CI 1.25-9.91) for TT versus GG ARMS2, 0.98 (95% CI 0.22-4.29) for GA versus AA, 1.00 (95% CI 0.25-4.02) for GG versus AA CFHI62V, 0.57 (95% CI 0.35-0.93) for CT versus TT CFH Y402H, and 0.40 (95% CI 0.22-0.74) for CC versus TT CFH Y402H. 28005184 2017
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE Our data did not show significant association between the CFH Y402H polymorphism and PDT treatment response for neovascular AMD; however, CRP genetic variants were associated with a positive response to PDT treatment for neovascular AMD. 19692124 2009
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE In the present study, exudative AMD is not associated to serum VEGF165 levels; furthermore, our data does not establish a statistical link between VEGF165 and the CFH Y402H polymorphism. 21158586 2011
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE Younger age of exudative AMD onset was associated with the homozygous AA genotype of IL-8 rs4073 (p = 0.009, Mann-Whitney U-test), CC genotype of CFH rs1061170 (p = 0.016), TT genotype of ARMS2 rs10490924 (p = 0.001) and with current smoking (p = 0.002). 26154559 2015
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE The aim of this study was to compare the functional and morphological 1-year evolution of patients with exudative AMD treated with antivascular endothelial growth factor (VEGF) drugs with the CFH Y402H polymorphism in the Brazilian population. 28641277 2019
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE Sixty-nine patients being treated for neovascular AMD with PDT were genotyped for the CFH Y402H and LOC387715 A69S polymorphisms by allele-specific digestion of PCR products. 18292785 2009
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His. 16865697 2006
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE However, higher levels of CRP in the presence of C allele of Y402H might confer more risk for the development of exudative AMD. 27778189 2017
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 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
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE There was a trend for association between the CFH Y402H T allele ("low risk" for AMD, n = 6) and improvement. 24113783 2013
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE There was no significant difference in the incidence of CFH Y402H (P = 0.598) and HTRA1 rs11200638 (P = 0.290) between eyes with typical exudative AMD and with PCV. 18939352 2008
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE The joint effects for complement factor H (CFH) Y402H and 10q26 variants indicated an increased risk of exudative AMD. 20456446 2010
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 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
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE For the CFH gene, the frequency of the previously reported Tyr402His variant was not significantly higher in the AMD group than in the control group (P = .31). 17157600 2006
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
0.100 GeneticVariation BEFREE CFH Y402H SNP might be protective for AMD in the Turkish population. 27404493 2016