Rs3135388
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs3135388 |
| hapmap | rs3135388 |
| hgdp | rs3135388 |
| ensembl | rs3135388 |
| gopubmed | rs3135388 |
| scholar | rs3135388 |
| rs3135388 | |
| pharmgkb | rs3135388 |
| hgvbaseg2p | rs3135388 |
| medrefsnp | rs3135388 |
| 23andMe | rs3135388 |
| SNP Nexus |
| Chromosome | 6 |
| Orientation | minus |
| Position | 32521028 |
| Genotype | Effect |
|---|---|
| rs3135388(C;C) | normal |
| rs3135388(C;T) | 3x higher risk of multiple sclerosis |
| rs3135388(T;T) | 3-6x higher risk of multiple sclerosis |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs3135388(C;C) | 00 | normal |
| Rs3135388(C;T) | 1.81.8 | 3x higher risk of multiple sclerosis |
| Rs3135388(T;T) | 22 | 3-6x higher risk of multiple sclerosis |
rs3135388 is highly (> 99%) correlated with the HLA-DRB1*1501 allele, and its risk allele (T) is associated with a 3 to 6 fold higher risk for developing multiple sclerosis.[PMID 17660530] The risk per allele (or per haplotype) appears additive. [PMID 11424637]
It has also been associated with other autoimmune diseases, such as systemic lupus erythematosis (SLE).
Note that the HLA-DRB1*1501 allele is fairly common; for example, it occurs in 15-30% of individuals of Northern European origin.
An interesting series of correlations have been woven together to suggest that a possible way to reduce the frequency of rs3135388(T) carriers developing multiple sclerosis would be to ensure sufficient vitamin D production, presumably through sunlight exposure, during as yet unknown critical periods in development. 10.1371/journal.pgen.1000369
[PMID 19433080] Association between rs3135388(T) allele and multiple sclerosis also seen in 269 Serbian patients, with an odds ratio of 2 for (T) allele carriers.
| ? | (C;C) (C;T) (T;T) |
|---|---|
|
| |
| GWAS snp | |
|---|---|
| PMID | [PMID 19525953] |
| Trait | Multiple sclerosis |
| Title | Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci |
| Risk Allele | A |
| P-val | 0 |
| Odds Ratio | 2.75 [2.46-3.07] |
