rs3775291
A SNP in the TLR3 gene on chromosome 4. Its most notable genotype is T;T: 0.44x decreased risk for dry age related macular degeneration
- Gene
- TLR3
- Location
- Chr 4186,082,920 (GRCh38)
- Highest magnitude
- 2.2Worth knowing
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 25%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TMost notableGood0.44x decreased risk for dry age related macular degeneration
- C;TGood0.71x decreased risk for dry age related macular degeneration
- C;CBadcommon but higher risk of age related macular degeneration
SNPedia records rs3775291 on the minus strand: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 11 HapMap populations.
- AverageT;T 6% C;T 30% C;C 64%
- European ancestry (Utah)T;T 13% C;T 48% C;C 39%
- Han Chinese (Beijing)T;T 7% C;T 38% C;C 55%
- Japanese (Tokyo)T;T 10% C;T 35% C;C 55%
- Yoruba (Nigeria)T;T 0% C;T 3% C;C 97%
- African ancestry (Southwest US)T;T 0% C;T 14% C;C 86%
- Chinese (Denver)T;T 14% C;T 49% C;C 38%
- Gujarati IndianT;T 4% C;T 35% C;C 61%
- Luhya (Kenya)T;T 0% C;T 6% C;C 94%
- Mexican ancestry (Los Angeles)T;T 12% C;T 47% C;C 41%
- Maasai (Kenya)T;T 0% C;T 11% C;C 89%
- TuscanT;T 7% C;T 48% C;C 45%
Related
Conditions, medicines and genes
Notes
From SNPedia
Show notes, about 410 words
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). Results of three independent samples did not confirm previously reported association of rs3775291 with AMD, individually or combined. Gene-environment interaction effects on the development of immune responses in the 1st year of life. Toll-like receptor polymorphisms and age-related macular degeneration. Vaccine immunogenetics: bedside to bench to population. Personalized vaccines: the emerging field of vaccinomics. Association of toll-like receptor 3 gene polymorphism with subacute sclerosing panencephalitis. Molecular pathology of age-related macular degeneration. Multilocus analysis of age-related macular degeneration. Toll-like receptor signaling pathway variants and prostate cancer mortality. Toll-like receptor 3 polymorphism rs3775291 is not associated with choroidal neovascularization or polypoidal choroidal vasculopathy in Chinese subjects. A functional Toll-like receptor 3 gene (TLR3) may be a risk factor for tick-borne encephalitis virus (TBEV) infection. Age-related macular degeneration-susceptibility single nucleotide polymorphisms in a han chinese control population. Association of polymorphisms in TLR genes and in genes of the Toll-like receptor signaling pathway with cancer risk.
T;T
Some association has been reported between polymorphisms in TLR genes and age related macular degeneration(ARMD). However, these variants are not likely to have a major impact of the overall risk of developing macular degeneration.
References
Source and license
Adapted from rs3775291 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.