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rs1061170

Chromosome : 1 , Position: 196690107
Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.
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Reference AlleleC
Alternative Alleles:  T

Traits

Trait Variant Impact PMID Author (year)
Age-related macular degeneration T
Hum Mol Genet Yu Y (2011)
Age-related macular degeneration (choroidal neovascularisation) T
Ophthalmology Sobrin L (2012)
Age-related macular degeneration (geographic atrophy) T
Ophthalmology Sobrin L (2012)
Complement factor H binding to malondialdehyde T
Proc Natl Acad Sci U S A Alic L (2020)
Disorders of choroid and retina T
Unknown journal FINNGEN_R5 (2021)

Summary

rs1061170 is a SNP in the complement factor H CFH gene; it is also known as Tyr402His. The rs1061170(T) allele encodes the more common Tyr (Y), while the generally rarer rs1061170(C) encodes the His (H).

This SNP has been associated primarily with age related macular degeneration, and to a lesser extent, with longevity.

This AMD.

CFH variations appear to contribute to ARMD in Caucasians, but not in Japanese [AMD [AMD in Taiwan Chinese populations.[C7 and MBL2) may protect individuals with one or two of the rs1061170(C) risk alleles. [AMD

In a 4 year study of longevity of 491 nonagenarians in the Finnish Vitality 90+ study, risk factor-adjusted mortality was significantly higher among the rs1061170(C) carriers compared to non-carriers (odds ratio 1.78, CI 1.19-2.67, p = 0.005), and the survival curves of these carriers and non-carriers deviated significantly (p = 0.016). In other words, in this study, rs1061170(T;T) individuals generally lived longer than (C) allele carriers. [PMID 19000922]

age related macular degeneration [PMID 15870199]




[PMID 19399715] Impact of interacting functional variants in COMT on regional gray matter volume in human brain


[PMID 19680273] ARMS2/HTRA1 and CFH polymorphisms are not associated with choroidal neovascularization in highly myopic eyes of the elderly Japanese population

[PMID 19692124] Complement Factor H Y402H and C-Reactive Protein Polymorphism and Photodynamic Therapy Response in Age-Related Macular Degeneration

[PMID 19797206] Susceptibility genes and progression in age-related maculopathy – a study of single eyes. The prospective Muenster Ageing and Retina Study (MARS)


[PMID 19899988] Association of c3 gene polymorphisms with neovascular age-related macular degeneration in a chinese population


[PMID 20132989] Phenotype and Genotype Characteristics of Age-related Macular Degeneration in a Japanese Population

[PMID 20678803] Complement Factor H and High-Temperature Requirement A-1 Genotypes and Treatment Response of Age-related Macular Degeneration

[PMID 20688737] Joint Effect of Cigarette Smoking, CFH and LOC387715/HTRA1 Polymorphisms on Polypoidal Choroidal Vasculopathy

[PMID 20708732] Genetic variation in complement factor H and risk of coronary heart disease: Eight new studies and a meta-analysis of around 48,000 individuals

[PMID 20843825] An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD)


[PMID 21825189] Complement Factor H 402H Variant and Reticular Macular Disease


[PMID 21882633] [Influence of genetic mutations on clinical presentation of subretinal neovascularization. Report 1: The impact of CFH and IL-8 genes polymorphism]


[PMID 21871809] Complement Factor H Y402H polymorphism is associated with an increased risk of mortality after intracerebral hemorrhage


[PMID 22019782] A rare penetrant mutation in CFH confers high risk of age-related macular degeneration


[PMID 22197220] Cigarette smoking strongly modifies the association of complement factor H variant and the risk of lung cancer


[PMID 22253316] Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype


[PMID 21913742] Genetic predictors of response to photodynamictherapy


[PMID 22509112] Genetic associations in polypoidal choroidal vasculopathy: A systematic review and meta-analysis


[PMID 22552255] Retinal function and CFH-ARMS2 polymorphisms analysis: a pilot study in Italian AMD patients


[PMID 22558131] Comprehensive Analysis of Copy Number Variation of Genes at Chromosome 1 and 10 Loci Associated with Late Age Related Macular Degeneration


[PMID 22666427] Modelling the Genetic Risk in Age-Related Macular Degeneration


[PMID 22699975] Genetic analysis of simultaneous geographic atrophy and choroidal neovascularization




[PMID 15761122] Complement factor H polymorphism in age-related macular degeneration.


[PMID 16080115] Susceptibility genes for age-related maculopathy on chromosome 10q26.


[PMID 16519819] Analysis of polymorphisms in 16 genes in type 1 diabetes that have been associated with other immune-mediated diseases.


[PMID 16630992] A common polymorphism in the complement factor H gene is associated with increased risk of myocardial infarction: the Rotterdam Study.


[PMID 16642439] Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration.


[PMID 16723442] A prospective assessment of the Y402H variant in complement factor H, genetic variants in C-reactive protein, and risk of age-related macular degeneration.


[PMID 16828512] Complement factor H increases risk for atrophic age-related macular degeneration.


[PMID 16865697] Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His.


[PMID 16936733] CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration.


[PMID 17022693] Determination of complement factor H functional polymorphisms (V62I, Y402H, and E936D) using sequence-specific primer PCR and restriction fragment length polymorphisms.


[PMID 17210853] Neovascular age-related macular degeneration and its association with LOC387715 and complement factor H polymorphism.


[PMID 17327825] An update on the genetics of age-related macular degeneration.


[PMID 17591627] Complement factor H and hemicentin-1 in age-related macular degeneration and renal phenotypes.


[PMID 17697822] Usefulness of combining complement factor H and C-reactive protein genetic profiles for predicting myocardial infarction (from the Rotterdam Study).


[PMID 17877809] Genetic variants of complement factor H gene are not associated with premature coronary heart disease: a family-based study in the Irish population.


[PMID 17917691] Genetic markers and biomarkers for age-related macular degeneration.


[PMID 17940599] Assembly of inflammation-related genes for pathway-focused genetic analysis.


[PMID 17962488] Coding and noncoding variants in the CFH gene and cigarette smoking influence the risk of age-related macular degeneration in a Japanese population.


[PMID 18043728] Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration.


[PMID 18067970] Peripheral reticular pigmentary change is associated with complement factor H polymorphism (Y402H) in age-related macular degeneration.


[PMID 18081690] Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H.


[PMID 18162041] Neovascular age-related macular degeneration risk based on CFH, LOC387715/HTRA1, and smoking.


[PMID 18248681] Prevalence of common disease-associated variants in Asian Indians.


[PMID 18378209] Vascular endothelial growth factor gene polymorphisms in age-related macular degeneration.


[PMID 18423869] CFH and LOC387715/ARMS2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration.


[PMID 18436811] Variants in the 10q26 gene cluster (LOC387715 and HTRA1) exhibit enhanced risk of age-related macular degeneration along with CFH in Indian patients.


[PMID 18493315] C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes.


[PMID 18515590] Association analysis of CFH, C2, BF, and HTRA1 gene polymorphisms in Chinese patients with polypoidal choroidal vasculopathy.


[PMID 18541031] The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration.


[PMID 18682812] Association of CFH, LOC387715, and HTRA1 polymorphisms with exudative age-related macular degeneration in a northern Chinese population.


[PMID 19026761] Molecular pathology of age-related macular degeneration.


[PMID 19074778] Combined effects of complement factor H genotypes, fish consumption, and inflammatory markers on long-term risk for age-related macular degeneration in a cohort.


[PMID 19076828] Genetics of C-reactive protein and complement factor H have an epistatic effect on carotid artery compliance: the Cardiovascular Risk in Young Finns Study.


[PMID 19077177] Genetic variability within the innate immune system influences personality traits in women.


[PMID 19091853] Pharmacogenetics of complement factor H (Y402H) and treatment of exudative age-related macular degeneration with ranibizumab.


[PMID 19169232] Variations in five genes and the severity of age-related macular degeneration: results from the Muenster aging and retina study.


[PMID 19187590] Genetic variants in three genes and smoking show strong associations with susceptibility to exudative age-related macular degeneration in a Chinese population.


[PMID 19187823] Coding variant I62V in the complement factor H gene is strongly associated with polypoidal choroidal vasculopathy.


[PMID 19202148] Assessing susceptibility to age-related macular degeneration with proteomic and genomic biomarkers.


[PMID 19226183] Donor-derived brain tumor following neural stem cell transplantation in an ataxia telangiectasia patient.


[PMID 19259132] Multilocus analysis of age-related macular degeneration.


[PMID 19381347] Single nucleotide polymorphisms of the tenomodulin gene (TNMD) in age-related macular degeneration.


[PMID 19661236] Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes.


[PMID 19779542] A genome-wide association analysis identified a novel susceptible locus for pathological myopia at 11q24.1.


[PMID 19806217] rs5888 variant of SCARB1 gene is a possible susceptibility factor for age-related macular degeneration.


[PMID 19823576] CFH, C3 and ARMS2 are significant risk loci for susceptibility but not for disease progression of geographic atrophy due to AMD.


[PMID 19861685] Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.


[PMID 19958499] A particle swarm based hybrid system for imbalanced medical data sampling.


[PMID 20157352] Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population.


[PMID 20157618] Complement component 3: an assessment of association with AMD and analysis of gene-gene and gene-environment interactions in a Northern Irish cohort.


[PMID 20339564] Risk factors for age-related maculopathy.


[PMID 20346514] C-reactive protein and CFH, ARMS2/HTRA1 gene variants are independently associated with risk of macular degeneration.


[PMID 20378180] Three major loci involved in age-related macular degeneration are also associated with polypoidal choroidal vasculopathy.


[PMID 20664795] R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population.


[PMID 20689796] Monozygotic twins with polypoidal choroidal vasuculopathy.


[PMID 21111031] Correlation of complement factor H gene polymorphisms with exudative age-related macular degeneration in a Chinese cohort.


[PMID 21402993] Assessing susceptibility to age-related macular degeneration with genetic markers and environmental factors.


[PMID 21455292] Using genetic variation and environmental risk factor data to identify individuals at high risk for age-related macular degeneration.


[PMID 21498607] Identification of urinary biomarkers for age-related macular degeneration.


[PMID 21558292] CFH, VEGF and HTRA1 promoter genotype may influence the response to intravitreal ranibizumab therapy for neovascular age-related macular degeneration.


[PMID 21609242] Age-related macular degeneration-susceptibility single nucleotide polymorphisms in a han chinese control population.


[PMID 21878851] Association between high-risk disease loci and response to anti-vascular endothelial growth factor treatment for wet age-related macular degeneration.


[PMID 22293892] A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovascular age-related macular degeneration in Poland – a brief report.


[PMID 22618592] Association of genetic polymorphisms and age-related macular degeneration in chinese population.


[PMID 22977134] Single nucleotide polymorphism in the cholesterol-24S-hydroxylase (CYP46A1) gene and its association with CFH and LOC387715 gene polymorphisms in AMD




[PMID 23337555] Pharmacogenetics for Genes Associated with Age-Related Macular Degeneration in the Comparison of AMD Treatments Trials (CATT)


[PMID 23111182] Prevalence and genomic association of reticular pseudodrusen in age-related macular degeneration


[PMID 23302509] Mitochondrial DNA haplogroups confer differences in risk for age-related macular degeneration: a case control study


[PMID 23098369] ARMS2 increases the risk of early and late age-related macular degeneration in the European Eye Study


[PMID 23582991] Genetic Influences on the Outcome of Anti-Vascular Endothelial Growth Factor Treatment in Neovascular Age-related Macular Degeneration


[PMID 23596508] Alterations of Choroidal Blood Flow Regulation in Young Healthy Subjects with Complement Factor H Polymorphism


[PMID 23919682] Complement alternative pathway genetic variation and Dengue infection in the Thai population


[PMID 24080590] Genetic Association with Response to Intravitreal Ranibizumab for Neovascular Age-Related Macular Degeneration in the Han Chinese Population


[PMID 24332537] Incidence and Progression of Reticular Drusen in Age-Related Macular Degeneration: Findings from an Older Australian Cohort


[PMID 22875704] Complement factor H genotypes impact risk of age-related macular degeneration by interaction with oxidized phospholipids.


[PMID 22936692] Can genetic associations change with age? CFH and age-related macular degeneration.


[PMID 23103884] Age-related macular degeneration and coronary heart disease: evaluation of genetic and environmental associations.


[PMID 23204795] Pharmacogenetic influence of LOC387715/HTRA1 on the efficacy of bevacizumab treatment for age-related macular degeneration in a Korean population.


[PMID 23289807] Gene-gene interactions of CFH and LOC387715/ARMS2 with Korean exudative age-related macular degeneration patients.


[PMID 23289808] The association of age-related maculopathy susceptibility 2 (ARMS2) and complement factor H (CFH) variants with two angiographic subtypes of polypoidal choroidal vasculopathy.


[PMID 23497844] Association of complement factor H tyrosine 402 histidine genotype with posterior involvement in sarcoid-related uveitis.


[PMID 23662819] Complement polymorphisms and cognitive dysfunction after carotid endarterectomy.


[PMID 23797962] Adrenomedullin Signaling Pathway Polymorphisms and Adverse Pregnancy Outcomes.


[PMID 24863099] Flicker-induced retinal vasodilatation is not dependent on complement factor H polymorphism in healthy young subjects


[PMID 24970616] The contribution of genetic factors to phenotype and progression of drusen in early age-related macular degeneration


[PMID 24067115] Functional effect of Saffron supplementation and risk genotypes in early age-related macular degeneration: a preliminary report


[PMID 25612476] Investigating the CFH Gene Polymorphisms as a Risk Factor for Age-related Macular Degeneration in an Iranian Population


[PMID 25742403] CFH Y402H polymorphism an

Population Alleles Frequency

ethhicity frequency
African/African-American 0.6292
Latino/Admixed American 0.7786
Ashkenazi Jewish 0.6655
East Asian 0.9574
European 0.6162
Other (population not assigned) 0.6292

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