rs1061170, CFH

N. diseases: 72
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Bacterial Infections
CUI: C0004623
Disease: Bacterial Infections
0.010 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
Acute central serous chorioretinopathy
0.010 GeneticVariation BEFREE Three single nucleotide polymorphisms in the CFH gene were significantly associated with aCSC: rs800292 (P = 0.003, odds ratio = 1.53 [95% confidence interval = 1.15-2.03]), rs1061170 (P = 0.002, odds ratio = 0.64 [95% confidence interval = 0.48-0.86]), and rs1329428 (P = 5.87 × 10, odds ratio = 1.83 [95% confidence interval = 1.40-2.38]). 30300269 2019
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
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
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
Lupus Nephritis
CUI: C0024143
Disease: Lupus Nephritis
0.010 GeneticVariation BEFREE There was a significantly higher ratio of CC/CT genotypes of rs1061170 in lupus nephritis patients with class III than in the other two classes (class III vs. class IV vs. class V: 21.0% vs. 9.7% vs. 9.4%; P = .044). 28403670 2017
Disseminated Intravascular Coagulation
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
Major Depressive Disorder
CUI: C1269683
Disease: Major Depressive Disorder
0.010 GeneticVariation BEFREE CFH is likely to play an important role in the development of MDD. rs1061170 has an important effect on age at onset of MDD in Han Chinese and may therefore be related to early pathogenesis of MDD, although further study is needed. 26941266 2016
Chronic Fatigue Syndrome
CUI: C0015674
Disease: Chronic Fatigue Syndrome
0.010 GeneticVariation BEFREE Of particular interest is association of CFS with two missense variants in genes of complement activation, rs4151667 (L9H) in CFB and rs1061170 (Y402H) in CFH. 26116897 2015
Obesity
CUI: C0028754
Disease: Obesity
0.010 GeneticVariation BEFREE Moreover, in exploratory analyses, we identified a number of possible interactions including between V249I and rs2669845 and dietary intake of ω-3 fatty acids (P = .004 and P = .009, respectively) for AMD; between rs2669845 and obesity (P = .03) for neovascular AMD; between T280M and complement component 3 (C3) R102G for AMD (P = .03); between rs2669845 and Y402H in complement factor H for AMD (P = .04); and between rs2669845, rs2853707, and V249I and C3 R102G for neovascular AMD (P = .008; .04; and .002, respectively). 24287500 2014
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
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
Multifocal choroiditis
CUI: C1533060
Disease: Multifocal choroiditis
0.010 GeneticVariation BEFREE To determine whether the complement factor H (CFH) tyrosine 402 histidine (Y402H) variant, recently shown to be associated with age-related macular degeneration (AMD) and multifocal choroiditis, is associated with specific ocular sarcoidosis clinical phenotypes in black and white persons. 23497844 2013
Panuveitis
CUI: C0030343
Disease: Panuveitis
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
Ocular sarcoidosis
CUI: C0398677
Disease: Ocular sarcoidosis
0.010 GeneticVariation BEFREE The Y402H polymorphism of CFH seems to be associated with ocular sarcoidosis in black and white persons. 23497844 2013
Dry age-related macular degeneration
0.010 GeneticVariation BEFREE Relationship between systemic cytokines and complement factor H Y402H polymorphism in patients with dry age-related macular degeneration. 24083687 2013
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.010 GeneticVariation BEFREE These findings suggest that CFH Y402H polymorphism may interact with cigarette smoking to effect the development of lung cancer in the Chinese population. 22197220 2012
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE These findings suggest that CFH Y402H polymorphism may interact with cigarette smoking to effect the development of lung cancer in the Chinese population. 22197220 2012
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
Membranoproliferative Glomerulonephritis, Type II
0.010 GeneticVariation BEFREE The complement factor H Y402H variant was significantly increased in dense deposit disease. 22456601 2012
Glomerulonephritis, Membranoproliferative
0.010 GeneticVariation BEFREE We report a 15-year-old boy diagnosed with MPGN II in whom genetic analyses of the CFH gene revealed that the patient was heterozygote for a polymorphism in exon 2 of the CFH (c.184G>A), heterozygote for a polymorphism in exon 9 of the CFH (c.1204C>T), and heterozygote for a polymorphism in exon 10 of the CFH (c.1419G>A). 22388616 2012
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.010 GeneticVariation BEFREE These findings suggest that CFH Y402H polymorphism may interact with cigarette smoking to effect the development of lung cancer in the Chinese population. 22197220 2012
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
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
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