From SNPedia
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]
| ? | (A;A) (A;G) (G;G) |
|---|
 |
[PMID 19475618] TLR3 gene polymorphisms and liver disease manifestations in chronic hepatitis C
Related to MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1
according to
omim 603075. See
also
[PMID 19741468] Impact of Polymorphisms of TLR4/CD14 and TLR3 on Acute Rejection in Kidney Transplantation
| PharmGKB | PA162355800 |
| Name | TLR3: L412F |
| Annotation | The T allele at rs3775291 in the TLR3 gene was associated with protection against geographic atrophy. |
| Gene | TLR3 |
| Featue | |
| Evidence | PubMed ID:18753640 |
| Drugs | |
| Diseases | |
| Curation Level | Curated |
