| Geno
|
Mag
|
Summary
|
| (T;T)
|
2
|
1.2x risk of Crohn's
|
via spitoon reports about 10.1038/ng.175 which identifies 32 snps relevant to Crohn's disease: Out of a possible total of 46, 80% of people will have between 17 and 25 copies of the riskier versions of these SNPs. Because there are so many of these SNPs--and because the riskier versions are often more common than their less risky counterparts--even people at the high end of the distribution are not much more likely than average to develop Crohn's disease.
Proxy snps on 23andMe
| GWAS snp
|
| PMID
|
[PMID 18587394 ]
|
| Trait
|
Crohn's disease
|
| Title
|
Genome-wide assocation defines more than 30 distinct susceptibility loci for Crohn's disease
|
| Risk Allele
|
A
|
| P-val
|
9.9999999999999998E-13
|
| Odds Ratio
|
1.20 [NR]
|
| OMIM | 612241 |
| Desc | INFLAMMATORY BOWEL DISEASE 12; IBD12 |
| Variant | |
| Related | also |
[PMID 20024904] Variants at the 3p21 locus influence susceptibility and phenotype both in adults and early-onset patients with inflammatory bowel disease
[PMID 19944697] Genome-wide association analysis in primary sclerosing cholangitis
| GWAS snp
|
| PMID
|
[PMID 21151127]
|
| Trait
|
|
| Title
|
Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci
|
| Risk Allele
|
|
| P-val
|
1E-16
|
| Odds Ratio
|
1.3900 [1.24-1.56]
|
| GWAS snp
|
| PMID
|
[PMID 21102463]
|
| Trait
|
|
| Title
|
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci
|
| Risk Allele
|
A
|
| P-val
|
6E-17
|
| Odds Ratio
|
1.2200 [1.16-1.27]
|
[PMID 18438406] Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.
[PMID 19079170] Gene-centric association mapping of chromosome 3p implicates MST1 in IBD pathogenesis.
[PMID 19474294] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
[PMID 20018022] Replication of recently identified associated single-nucleotide polymorphisms from six autoimmune diseases in Genetic Analysis Workshop 16 rheumatoid arthritis data.
[PMID 20369022] Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.
[PMID 21304977] An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.
[PMID 22237417] Macrophage-stimulating protein polymorphism rs3197999 is associated with a gain of function: implications for inflammatory bowel disease.
[PMID 22554193] Fine mapping and replication of genetic risk loci in primary sclerosing cholangitis.
[PMID 23422030] Macrophage stimulating protein variation enhances the risk of sporadic extrahepatic cholangiocarcinoma.
]
