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Rs800292

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 2 5% higher risk of Age related macular degeneration
(C;T) 1 1% decreased risk of macular degeneration
(T;T) 2 5% decreased risk of macular degeneration
ReferenceGRCh38 38.1/141
Chromosome1
Position196673103
GeneCFH
is asnp
is mentioned by
dbSNPrs800292
ebirs800292
Exacrs800292
PheGenIrs800292
hapmaprs800292
1000 genomesrs800292
hgdprs800292
ensemblrs800292
gopubmedrs800292
geneviewrs800292
scholarrs800292
googlers800292
pharmgkbrs800292
gwascentralrs800292
openSNPrs800292
23andMers800292
23andMe allrs800292
SNP Nexus

SNPshotrs800292
SNPdbers800292
MSV3drs800292
GWAS Ctlgrs800292
GMAF0.4348
Max Magnitude2
? (C;C) (C;T) (T;T) 28
rs800292 is a SNP in the complement factor H CFH gene; it has been linked to blindness in age related macular degeneration. This SNP is also known as 184G>A, I62V, or Val62Ile.


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

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

[PMID 18316707OA-icon.png] A study of Chinese AMD patients reports that carriers of both rs11200638 and rs800292 risk alleles pushes the odds ratio for AMD up to 23x. Overall, an "extremely high" population attributable risk (PAR) of 78% reported for these SNPs.

[PMID 19187823] rs800292 was associated with polypoidal choroidal vasculopathy (PCV) in a study of 130 Japanese patients.

age related macular degeneration [PMID 15870199OA-icon.png]

OMIM134370
DescCOMPLEMENT FACTOR H; CFH
Variant
Relatedalso


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


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


[PMID 20538655] Polymorphisms in CFH, HTRA1 and CX3CR1 confer risk to exudative age-related macular degeneration in Han Chinese

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

OMIM134370
Desc
Variant0009
Relatedalso
[PMID 22065918OA-icon.png] CFH 184G as a genetic risk marker for anterior uveitis in Chinese females


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


[PMID 22594510] Association of genetic polymorphisms with response to bevacizumab for neovascular age-related macular degeneration in the Chinese population


ClinVar
Risk rs800292(T;T)
Alt rs800292(T;T)
Reference rs800292(C;C)
Significance Other
Disease Age-related macular degeneration 4 not provided
Variation info
Gene CFH
CLNDBN Age-related macular degeneration 4 not provided
Reversed 1
HGVS NC_000001.10:g.196642233G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018017.3, RCV000190297.1,



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

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

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

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

[PMID 18421087] Multiple gene polymorphisms in the complement factor h gene are associated with exudative age-related macular degeneration in chinese.

[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 18787502OA-icon.png] Genetic contributions to the development of retinopathy of prematurity.

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

[PMID 19259132OA-icon.png] Multilocus analysis of 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 19933189] Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa.

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

[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 20161815OA-icon.png] SERPING1 polymorphisms in polypoidal choroidal vasculopathy.

[PMID 20181037OA-icon.png] Incorporating prior knowledge to facilitate discoveries in a genome-wide association study on age-related macular degeneration.

[PMID 20689796OA-icon.png] Monozygotic twins with polypoidal choroidal vasuculopathy.

[PMID 21397333] Role of complement factor H I62V and age-related maculopathy susceptibility 2 A69S variants in the clinical expression of polypoidal choroidal vasculopathy.

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

[PMID 21896867] Associations of complement factor H (CFH) and age-related maculopathy susceptibility 2 (ARMS2) genotypes with subtypes of polypoidal choroidal vasculopathy.

[PMID 21899915] Complement polymorphisms: geographical distribution and relevance to disease.

[PMID 21909106] Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population.

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


GET Evidence
CFH-V62I
aa_change Val62Ile
aa_change_short V62I
impact protective
qualified_impact Low clinical importance, Likely protective
overall_frequency 0.391616
summary Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk.



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


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


[PMID 23620142OA-icon.png] Genome-wide and Gene-Centric Analyses of Circulating Myeloperoxidase Levels in the CHARGE and CARe Consortia


[PMID 23919682OA-icon.png] Complement alternative pathway genetic variation and Dengue infection in the Thai population


[PMID 24393350] Genes in the High-Density Lipoprotein Metabolic Pathway in Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy


[PMID 23864767OA-icon.png] Association of CFH and CFB gene polymorphisms with retinopathy in type 2 diabetic patients


[PMID 22714898] Association of C2 and CFB polymorphisms with anterior uveitis.


[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 23233260OA-icon.png] Association between polymorphisms of complement pathway genes and age-related macular degeneration in a Chinese 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 24865190] Association of Specific Genetic Polymorphisms with Age-related Macular Degeneration in a Northern Chinese Population


[PMID 24865191] Genetic Variants in the SKIV2L Gene in Exudative Age-related Macular Degeneration in the Japanese Population


[PMID 24365176] Common variants in the complement factor H gene confer genetic susceptibility to central serous chorioretinopathy


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


[PMID 24675670OA-icon.png] Impact of the common genetic associations of age-related macular degeneration upon systemic complement component C3d levels


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


[PMID 26296146] PREVALENCE OF THE COMPLEMENT FACTOR H AND GSTM1 GENES POLYMORPHISMS IN PATIENTS WITH CENTRAL SEROUS CHORIORETINOPATHY