rs1061170, CFH

N. diseases: 72
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Wet age-related macular degeneration
0.010 GeneticVariation BEFREE The purpose of this study is to evaluate the effect of complement factor H (CFH) Y402H CC and TT polymorphisms on treatment response to intravitreal ranibizumab injection in patients with wet age-related macular degeneration (AMD). 24367156 2013
Venous Thromboembolism
CUI: C1861172
Disease: Venous Thromboembolism
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
Vascular Diseases
CUI: C0042373
Disease: Vascular Diseases
0.010 GeneticVariation BEFREE We, therefore, evaluated the CFH genetic variant Y402H amongst 685 Caucasian individuals who subsequently developed arterial or venous thrombotic event (incident myocardial infarction (MI), ischaemic stroke, or venous thromboembolism) and amongst 685 age- and smoking-matched Caucasian individuals who remained free of reported vascular disease during follow-up (controls) within the Physicians' Health Study cohort. 16229850 2006
Uveitis, Posterior
CUI: C0042167
Disease: Uveitis, Posterior
0.010 GeneticVariation BEFREE Carriage of the CFH Y402H polymorphism in both alleles is associated with an increased risk for posterior uveitis and panuveitis presentation. 23497844 2013
Thrombotic Microangiopathies
CUI: C2717961
Disease: Thrombotic Microangiopathies
0.010 GeneticVariation BEFREE Subsequent tests revealed elevated serum levels of soluble C5b-9, and genetic testing revealed compound heterozygous c.184G > A (Val62Ile) and c.1204T > C (Tyr402His) single-nucleotide polymorphisms in complement factor H.We encountered a case of complement-mediated TMA accompanied by DIC, which was successfully treated with eculizumab. 28178155 2017
Systemic Inflammatory Response Syndrome
0.010 GeneticVariation BEFREE Homozygosity for the complement factor H Y402H polymorphism, which is thought to reduce complement inhibition, was associated with less frequent SIRS/sepsis (the adjusted odds ratio for the homozygous variant complement factor H Y402H [CC] carriers was 0.3, 95% confidence interval, 0.1-0.7, p = .005). 20351616 2010
Sudden sensorineural hearing loss
CUI: C4275242
Disease: Sudden sensorineural hearing loss
0.010 GeneticVariation BEFREE We conclude that CFH Y402H polymorphism and SSNHL risk are significantly related, and that diabetic CFH Y402H minor allele carriers may be susceptible to SSNHL. 22426290 2012
Stargardt's disease
CUI: C0271093
Disease: Stargardt's disease
0.010 GeneticVariation BEFREE CFH Y402H polymorphism in Italian patients with age-related macular degeneration, retinitis pigmentosa, and Stargardt disease. 30285522 2018
Soft drusen
CUI: C1720452
Disease: Soft drusen
0.040 GeneticVariation BEFREE After adjusting for age and other covariants, the CFH CC (Y402H polymorphism) genotype was associated with an increased likelihood of bilateral compared with unilateral involvement by any soft drusen (odds ratio [OR], 2.5; 95% confidence interval [CI], 1.4-4.5), distinct soft drusen (OR, 2.8; 95% CI, 1.0-8.1), and pigmentary abnormalities (OR, 1.7; 95% CI, 1.0-2.8). 19822851 2009
Soft drusen
CUI: C1720452
Disease: Soft drusen
0.040 GeneticVariation BEFREE Also in the Chinese population, soft drusen as part of age-related maculopathy are associated with the Y402H polymorphism in the complement factor H gene despite a markedly lower frequency of C allele in the Chinese population than in white populations. 20038862 2010
Soft drusen
CUI: C1720452
Disease: Soft drusen
0.040 GeneticVariation BEFREE Furthermore, we show that the Y402H variant confers similar risk of soft drusen and both forms of advanced AMD (GA or neovascular AMD). 16300415 2006
Soft drusen
CUI: C1720452
Disease: Soft drusen
0.040 GeneticVariation BEFREE CFH Y402H is associated with disease progression, with soft drusen and hyperpigmentation as high-risk features. 29453225 2018
Septicemia
CUI: C0036690
Disease: Septicemia
0.020 GeneticVariation BEFREE Homozygosity for the complement factor H Y402H polymorphism, which is thought to reduce complement inhibition, was associated with less frequent SIRS/sepsis (the adjusted odds ratio for the homozygous variant complement factor H Y402H [CC] carriers was 0.3, 95% confidence interval, 0.1-0.7, p = .005). 20351616 2010
Septicemia
CUI: C0036690
Disease: Septicemia
0.020 GeneticVariation BEFREE A case-control method (488 septic patients and 527 healthy individuals) was carried out in this study to investigate the genetic relationship between CFH polymorphisms (rs3753394 C/T, rs1065489 G/T and rs1061170 C/T) and susceptibility to sepsis caused by bacterial infections in Chinese Han populations. 31525397 2020
Sepsis
CUI: C0243026
Disease: Sepsis
0.020 GeneticVariation BEFREE A case-control method (488 septic patients and 527 healthy individuals) was carried out in this study to investigate the genetic relationship between CFH polymorphisms (rs3753394 C/T, rs1065489 G/T and rs1061170 C/T) and susceptibility to sepsis caused by bacterial infections in Chinese Han populations. 31525397 2020
Sepsis
CUI: C0243026
Disease: Sepsis
0.020 GeneticVariation BEFREE Homozygosity for the complement factor H Y402H polymorphism, which is thought to reduce complement inhibition, was associated with less frequent SIRS/sepsis (the adjusted odds ratio for the homozygous variant complement factor H Y402H [CC] carriers was 0.3, 95% confidence interval, 0.1-0.7, p = .005). 20351616 2010
Schizophrenia
CUI: C0036341
Disease: Schizophrenia
0.010 GeneticVariation BEFREE Next, we performed a genotype-phenotype analysis to identify the relationship between <i>CFH</i> Y402H polymorphism and clinical features of schizophrenia. 28293111 2017
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.010 GeneticVariation BEFREE The CFH variants, I62V, Y402H, IVS1 and IVS10, known to associate strongly with AMD, did not show a significant association with the risk of developing RA despite a strong statistical power to detect such differences. 22059990 2011
Retinal Diseases
CUI: C0035309
Disease: Retinal Diseases
0.010 GeneticVariation BEFREE The Y402H variant of complement factor H is associated with age-related macular degeneration but not with diabetic retinal disease in the Go-DARTS study. 19646183 2009
Retinal angiomatous proliferation
CUI: C2609315
Disease: Retinal angiomatous proliferation
0.020 GeneticVariation BEFREE Y402H was associated with tAMD (P = 3.00 × 10(-5)) and with PCV (P = 9.73 × 10(-5)), but no association was found with RAP, possibly because of the small sample size and the rare minor allele. 20574013 2010
Retinal angiomatous proliferation
CUI: C2609315
Disease: Retinal angiomatous proliferation
0.020 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
Reticular pseudodrusen
CUI: C2609282
Disease: Reticular pseudodrusen
0.040 GeneticVariation BEFREE Comparison of above-mentioned ORs revealed statistically higher values for GT and TT genotypes of ARMS2 A69S compared with CFH Y402H genotypes (p = 0.011, p = 0.014, respectively).Our analysis showed stronger contribution of ARMS2 in AMD with RPD group versus AMD without RPD group, in comparison with CFH genotypes. 28593728 2018
Reticular pseudodrusen
CUI: C2609282
Disease: Reticular pseudodrusen
0.040 GeneticVariation BEFREE The ARMS2 single nucleotide polymorphism (SNP) rs10490924, HTRA1 SNPs rs11200638 and rs3793917, and CFH SNPs rs393955, rs1061170, and rs2274700 were associated with increased prevalence of RPD (all P < 0.05). 26681391 2016
Reticular pseudodrusen
CUI: C2609282
Disease: Reticular pseudodrusen
0.040 GeneticVariation BEFREE Six single nucleotide polymorphisms-rs10490924 (ARMS2), rs1061170 (CFH), rs2230199 (C3), rs116503776 and rs114254831 (C2/CFB), and rs943080 (VEGF-A)-and the genetic risk score (GRS) were assessed for association with RPD. 31558345 2019
Reticular pseudodrusen
CUI: C2609282
Disease: Reticular pseudodrusen
0.040 GeneticVariation BEFREE CFH Y402H, ARMS2, HTRA1, and C3 were significantly associated with reticular pseudodrusen. 29801032 2018