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rs3775291

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 2.2 0.44x decreased risk for dry age related macular degeneration
(A;G) 2.1 0.71x decreased risk for dry age related macular degeneration
(G;G) 2 common but higher risk of age related macular degeneration
ReferenceGRCh38 38.1/141
Chromosome4
Position186082920
GeneTLR3
is asnp
is mentioned by
dbSNPrs3775291
ebirs3775291
HLIrs3775291
Exacrs3775291
Varsomers3775291
Maprs3775291
PheGenIrs3775291
hapmaprs3775291
1000 genomesrs3775291
hgdprs3775291
ensemblrs3775291
gopubmedrs3775291
geneviewrs3775291
scholarrs3775291
googlers3775291
pharmgkbrs3775291
gwascentralrs3775291
openSNPrs3775291
23andMers3775291
23andMe allrs3775291
SNP Nexus

SNPshotrs3775291
SNPdbers3775291
MSV3drs3775291
GWAS Ctlgrs3775291
GMAF0.2502
Max Magnitude2.2
? (A;A) (A;G) (G;G) 28
rs3775291 is a SNP in the TLR3 gene associated with an amino acid change in the corresponding protein. In the orientation as shown in dbSNP, the more common rs3775291(G) allele encodes a leucine while the rarer rs3775291(A) allele encodes a phenylalanine.

rs3775291 has been associated with one form of age related macular degeneration (ARMD), specifically, the form known as "dry" ARMD, also known as geographic atrophy. A study of 3 case-control groups of Americans of European descent, comprising about 900 ARMD patients in total, indicated that having one rs3775291(A) allele reduces the odds of having dry ARMD about 30%, and being a rs3775291(A;A) homozygote cuts your odds by more than half. Specifically, the odds ratio of having dry ARMD with one minor allele is 0.712 (CI: 0.50-1.0), and for two minor alleles, 0.437 ( CI: 0.227-0.839). This was highly significant for the pooled populations (p = 1.24x10e–7) and also in each population independently(p = 0.002-0.005).[PMID 18753640OA-icon.png]

Results of three independent samples did not confirm previously reported association of rs3775291 with AMD, individually or combined.[PMID 19628747OA-icon.png]


[PMID 19475618] TLR3 gene polymorphisms and liver disease manifestations in chronic hepatitis C

OMIM603075
DescMACULAR DEGENERATION, AGE-RELATED, 1; ARMD1
Variant
Relatedalso
OMIM603029
DescTOLL-LIKE RECEPTOR 3; TLR3
Variant
Relatedalso

[PMID 19741468] Impact of Polymorphisms of TLR4/CD14 and TLR3 on Acute Rejection in Kidney Transplantation



[PMID 21239167] TLR-3 polymorphism is an independent prognostic marker for stage II colorectal cancer


[PMID 21712495] Toll-like receptor 3 C1234T may protect against geographic atrophy through decreased dsRNA binding capacity


[PMID 22174453] A Common Polymorphism in TLR3 Confers Natural Resistance to HIV-1 Infection


[PMID 22205660OA-icon.png] Single nucleotide polymorphisms in the Toll-like receptor 3 and CD44 genes are associated with persistence of vaccine-induced immunity to the serogroup C meningococcal conjugate vaccine

[PMID 15726497OA-icon.png] Gene-environment interaction effects on the development of immune responses in the 1st year of life.

[PMID 18385087] Toll-like receptor polymorphisms and age-related macular degeneration.

[PMID 18598732OA-icon.png] Vaccine immunogenetics: bedside to bench to population.

[PMID 18847302OA-icon.png] Personalized vaccines: the emerging field of vaccinomics.

[PMID 19016379] Association of toll-like receptor 3 gene polymorphism with subacute sclerosing panencephalitis.

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

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

[PMID 19505919OA-icon.png] Toll-like receptor signaling pathway variants and prostate cancer mortality.

[PMID 21079408] Toll-like receptor 3 polymorphism rs3775291 is not associated with choroidal neovascularization or polypoidal choroidal vasculopathy in Chinese subjects.

[PMID 21216866OA-icon.png] A functional Toll-like receptor 3 gene (TLR3) may be a risk factor for tick-borne encephalitis virus (TBEV) infection.

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

[PMID 21872627] Association of polymorphisms in TLR genes and in genes of the Toll-like receptor signaling pathway with cancer risk.


[PMID 22552940] Polymorphisms in Toll-like receptor 3 confer natural resistance to human herpes simplex virus type 2 infection


GET Evidence
TLR3-L412F
aa_change Leu412Phe
aa_change_short L412F
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.213237
summary



[PMID 23576520OA-icon.png] Genetic Polymorphisms in Host Innate Immune Sensor Genes and the Risk of Nasopharyngeal Carcinoma in North Africa


[PMID 23962581OA-icon.png] Association betweenTLR3 rs3775291 and resistance to HIV among highly exposed Caucasian intravenous drug users


[PMID 24028589] TLR2, TLR3, TLR4 and CD14 gene polymorphisms associated with oral lichen planus risk


[PMID 23466493] Association of common single-nucleotide polymorphisms in innate immune genes with differences in TLR-induced cytokine production in neonates


[PMID 24064706] Polymorphisms within Toll-like receptors are associated with systemic lupus erythematosus in a cohort of Danish females


[PMID 24621100] A Polymorphism in Melanoma Differentiation-associated Gene 5 May Be a Risk Factor for Enterovirus 71 Infection


ClinVar
Risk rs3775291(A;A)
Alt rs3775291(A;A)
Reference rs3775291(G;G)
Significance Other
Disease Human immunodeficiency virus type 1
Variation info
Gene TLR3
CLNDBN Human immunodeficiency virus type 1, susceptibility to
Reversed 1
HGVS NC_000004.11:g.187004074C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000034357.3,



[PMID 25226020OA-icon.png] Polymorphisms in Chemokine Receptor 5 and Toll-Like Receptor 3 Genes Are Risk Factors for Clinical Tick-Borne Encephalitis in the Lithuanian Population


[PMID 25304972OA-icon.png] A non-synonymous single-nucleotide polymorphism in the gene encoding Toll-like Receptor 3 (TLR3) is associated with sero-negative Rheumatoid Arthritis (RA) in a Danish population


[PMID 25720507] A toll-like receptor 3 single nucleotide polymorphism in Japanese patients with sarcoidosis