Rs3775291

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is asnp
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dbSNPrs3775291
nextbiors3775291
hapmaprs3775291
1000 genomesrs3775291
hgdprs3775291
ensemblrs3775291
gopubmedrs3775291
scholarrs3775291
googlers3775291
pharmgkbrs3775291
gwascentralrs3775291
openSNPrs3775291
23andMers3775291
23andMe allrs3775291
SNP Nexus

SNPshotrs3775291
SNPdbers3775291
MSV3drs3775291
GeneTLR3
Chromosome4
Orientationminus
Position187004074
ReferenceGRCh37 37.1/131
Max Magnitude2.2
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
? (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 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

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

PharmGKBPA164925712
NameTLR3: P412L
AnnotationHeterozygots for this variant in the TLR3 gene were associated with low antibody and lymphoproliferative responses (p <or= 0.02) to measles vaccination.
GeneTLR3
Featue
EvidencePubMed ID:18325643
Drugs
Diseases
Curation LevelCurated
PharmGKBPA162355800
NameTLR3: L412F
AnnotationThe T allele at rs3775291 in the TLR3 gene was associated with protection against geographic atrophy.
GeneTLR3
Featue
EvidencePubMed ID:18753640
Drugs
Diseases
Curation LevelCurated

[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

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