rs3775291

minus

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

Reference

GRCh38 38.1/141

Chromosome

4

Position

186082920

Gene

TLR3

is a	snp
is	mentioned by
dbSNP	rs3775291
dbSNP (classic)	rs3775291
ClinGen	rs3775291
ebi	rs3775291
HLI	rs3775291
Exac	rs3775291
Gnomad	rs3775291
Varsome	rs3775291
LitVar	rs3775291
Map	rs3775291
PheGenI	rs3775291
Biobank	rs3775291
1000 genomes	rs3775291
hgdp	rs3775291
ensembl	rs3775291
geneview	rs3775291
scholar	rs3775291
google	rs3775291
pharmgkb	rs3775291
gwascentral	rs3775291
openSNP	rs3775291
23andMe	rs3775291
SNPshot	rs3775291
SNPdbe	rs3775291
MSV3d	rs3775291
GWAS Ctlg	rs3775291

GMAF

0.2502

Max Magnitude

2.2

?

(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 = 1.24x10eâ€“7) and also in each population independently(p = 0.002-0.005).[PMID 18753640 ]

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

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

OMIM	603075
Desc	MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1
Variant
Related	also

OMIM	603029
Desc	TOLL-LIKE RECEPTOR 3; TLR3
Variant
Related	also

[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 22205660 ] 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 15726497 ] 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 18598732 ] Vaccine immunogenetics: bedside to bench to population.

[PMID 18847302 ] Personalized vaccines: the emerging field of vaccinomics.

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

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

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

[PMID 19505919 ] 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 21216866 ] 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

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

[PMID 23962581 ] 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) rs3775291(C;C)
Alt	Rs3775291(A;A) rs3775291(C;C)
Reference	Rs3775291(G;G)
Significance	Other
Disease	Human immunodeficiency virus type 1 not specified
Variation	info
Gene	TLR3
CLNDBN	Human immunodeficiency virus type 1, susceptibility to not specified
Reversed	1
HGVS	NC_000004.11:g.187004074C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000034357.3, RCV000455666.1,

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

[PMID 25304972 ] 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

[PMID 29259020 ] Genetic risk factors for late age-related macular degeneration in India.

[PMID 29237089 ] Toll-like receptor 3 L412F polymorphism promotes a persistent clinical phenotype in pulmonary sarcoidosis.