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From SNPedia

Geno Mag Summary
(C;C) 3.2 5.9x risk for AMD; higher mortality among nonagenarians
(C;T) 2.5 2.5x risk for AMD; higher mortality among nonagenarians
(T;T) 1.6 lower risk for AMD, generally longer live than (C) allele carriers
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs1061170
23andMe allrs1061170
SNP Nexus

GWAS Ctlgrs1061170
Max Magnitude3.2
? (C;C) (C;T) (T;T) 28
rs1061170 is a SNP in the complement factor H CFH gene; it is also known as Tyr402His or p.Y402H. 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 research paper shows that CFH Y402H is the relevant mutation. [PMID 16849663]

A haplotype of rs1061170 rs3753394 rs800292 rs1329428 (TGTC) was found to confer a significantly increased likelihood of exudative AMD. [PMID 17167412]

rs1061170 (aka Y402H 1277 T>C) was not associated with exudative AMD.

CFH variations appear to contribute to ARMD in Caucasians, but not in Japanese [PMID 16710702]

CFH variant rs1061170 Y402H is strongly associated with both dry and wet AMD [PMID 17306880]

rs1061170(C) alleles are significantly associated with increased susceptibility to early AMD in Taiwan Chinese populations.[PMID 18784628]

Some SNPs in other genes (like C7 and MBL2) may protect individuals with one or two of the rs1061170(C) risk alleles. [PMID 17266113]

[PMID 18682806OA-icon.png] An analysis of the joint effects of rs1061170, rs11200638 and rs10490924 on 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 15870199OA-icon.png]


Venter snp
Source plos
Gene CFH
allele T
HuRef 1103675303121
Disease Association Defects in CFH are a cause of suscpetibility to age- related macular degeneration 1 (ARMD1) (MIM:603075). ARMD is the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid (known as drusen) that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. ARMD is likely to be a mechanistically heterogeneous group of disorders, and the specific disease mechanisms that underlie the vast majority of cases are currently unknown. However, a number of studies have suggested that both genetic and environmental factors are likely to play a role.

[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

GWAS snp
PMID [PMID 20385826OA-icon.png]
Trait Age-related macular degeneration
Title Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)
Risk Allele
P-val 4E-117
Odds Ratio None None

[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)

GWAS snp
PMID [PMID 21665990OA-icon.png]
Title Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
Risk Allele C
P-val 0
Odds Ratio 2.4100 [NR]

[PMID 21825189OA-icon.png] 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 22019782OA-icon.png] 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 22253316OA-icon.png] 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 22509112OA-icon.png] 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 22558131OA-icon.png] Comprehensive Analysis of Copy Number Variation of Genes at Chromosome 1 and 10 Loci Associated with Late Age Related Macular Degeneration

[PMID 22666427OA-icon.png] Modelling the Genetic Risk in Age-Related Macular Degeneration

[PMID 22699975OA-icon.png] Genetic analysis of simultaneous geographic atrophy and choroidal neovascularization

Risk rs1061170(T;T)
Alt rs1061170(T;T)
Reference rs1061170(C;C)
Significance Other
Disease Age-related macular degeneration 4 Basal laminar drusen
Variation info
Gene CFH
CLNDBN Age-related macular degeneration 4 Basal laminar drusen
Reversed 0
HGVS NC_000001.10:g.196659237C\x3d
CLNSRC OMIM Allelic Variant
CLNACC RCV000018015.4, RCV000018016.30,

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

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

[PMID 16519819OA-icon.png] 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 16642439OA-icon.png] Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration.

[PMID 16723442OA-icon.png] 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 16936733OA-icon.png] 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 17327825OA-icon.png] 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 17877809OA-icon.png] Genetic variants of complement factor H gene are not associated with premature coronary heart disease: a family-based study in the Irish population.

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

[PMID 17940599OA-icon.png] 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 18043728OA-icon.png] 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 18081690OA-icon.png] Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H.

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

[PMID 18248681OA-icon.png] 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 18493315OA-icon.png] 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 18541031OA-icon.png] The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration.

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

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

[PMID 19074778OA-icon.png] 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 19076828OA-icon.png] 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 19091853OA-icon.png] 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 19202148OA-icon.png] Assessing susceptibility to age-related macular degeneration with proteomic and genomic biomarkers.

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

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

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

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

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

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

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

[PMID 19861685OA-icon.png] 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 19958499OA-icon.png] A particle swarm based hybrid system for imbalanced medical data sampling.

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

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

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

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

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

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

[PMID 20689796OA-icon.png] 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 21402993OA-icon.png] Assessing susceptibility to age-related macular degeneration with genetic markers and environmental factors.

[PMID 21455292OA-icon.png] 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 22293892OA-icon.png] 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.

GWAS snp
PMID [PMID 22705344OA-icon.png]
Title Heritability and Genome-Wide Association Study to Assess Genetic Differences between Advanced Age-Related Macular Degeneration Subtypes.
Risk Allele
P-val 5E-67
Odds Ratio 2.7800 None

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

GET Evidence
aa_change His402Tyr
aa_change_short H402Y
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.625767

[PMID 23337555OA-icon.png] 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 23302509OA-icon.png] 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 23596508OA-icon.png] Alterations of Choroidal Blood Flow Regulation in Young Healthy Subjects with Complement Factor H Polymorphism

[PMID 23919682OA-icon.png] 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 22875704OA-icon.png] 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 23204795OA-icon.png] 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 23662819OA-icon.png] Complement polymorphisms and cognitive dysfunction after carotid endarterectomy.

[PMID 23797962OA-icon.png] Adrenomedullin Signaling Pathway Polymorphisms and Adverse Pregnancy Outcomes.

[PMID 24863099OA-icon.png] 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 24067115OA-icon.png] 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 and response to intravitreal Ranibizumab in brazilian patients with neovascular age-related macular degeneration

[PMID 25811666] Novel association of FCGR2A polymorphism with age-related macular degeneration (AMD) and development of a novel CFH real-time genotyping method

[PMID 24974817] No clinically significant association between CFH and ARMS2 genotypes and response to nutritional supplements: AREDS report number 38

[PMID 25814824OA-icon.png] CFH Y402H polymorphism is associated with elevated vitreal GM-CSF and choroidal macrophages in the postmortem human eye

[PMID 26116897] Pathway-Focused Genetic Evaluation of Immune and Inflammation Related Genes with Chronic Fatigue Syndrome

[PMID 26154559] The genetic variant rs4073 A→T of the Interleukin-8 promoter region is associated with the earlier onset of exudative age-related macular degeneration

[PMID 26217379] Ancestry of the Timorese: age-related macular degeneration associated genotype and allele sharing among human populations from throughout the world

[PMID 25596882] Genetic predictive biomarkers of anti-VEGF treatment response in patients with neovascular age-related macular degeneration

[PMID 26411831] Pharmacogenetics of Complement Factor H Y402H Polymorphism and Treatment of Neovascular AMD with Anti-VEGF Agents: A Meta-Analysis

[PMID 25627090] Age-related macular degeneration phenotypes associated with mutually exclusive homozygous risk variants in CFH and HTRA1 genes

[PMID 26681391] Reticular Pseudodrusen and Their Association with Age-Related Macular Degeneration: The Melbourne Collaborative Cohort Study.

[PMID 27099955] Single-Nucleotide Polymorphisms Associated With Age-Related Macular Degeneration and Lesion Phenotypes in the Comparison of Age-Related Macular Degeneration Treatments Trials.

[PMID 27116510] Effect of Risk Alleles in CFH, C3, and VEGFA on the Response to Intravitreal Bevacizumab in Tunisian Patients with Neovascular Age-related Macular Degeneration.