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rs2631367

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) Increased risk for Crohn's Disease
(C;G) Increased risk for Crohn's Disease
(G;G) 0 Normal
ReferenceGRCh38 38.1/141
Chromosome5
Position132369766
GeneMIR4750, SLC22A5
is asnp
is mentioned by
dbSNPrs2631367
ebirs2631367
HLIrs2631367
Exacrs2631367
Varsomers2631367
Maprs2631367
PheGenIrs2631367
hapmaprs2631367
1000 genomesrs2631367
hgdprs2631367
ensemblrs2631367
gopubmedrs2631367
geneviewrs2631367
scholarrs2631367
googlers2631367
pharmgkbrs2631367
gwascentralrs2631367
openSNPrs2631367
23andMers2631367
23andMe allrs2631367
SNP Nexus

SNPshotrs2631367
SNPdbers2631367
MSV3drs2631367
GWAS Ctlgrs2631367
GMAF0.3196
Max Magnitude0
rs2631367, a SNP in the promoter region of the SLC22A5 gene, has been associated with an autoimmune disease, in this case, Crohn's disease, odds ratio = 2.1 (CI = 1.31–3.39, p = 0.002), based on a study of 203 cases and 200 controls. The risk allele is the more rare allele, which appears to be rs2631367(C).[Note: this orientation has not been confirmed relative to dbSNP.][PMID 15107849]

A nearby SNP (rs1050152) in the coding region of the SLC22A4 gene defines a haplotype along with rs2631367, with odds ratio reported as similar for either SNP or the haplotype. Referring to the TC risk haplotype, the population risk attributable to heterozygotes was 19%, and for homozygous haplotype carriers, 27%.[PMID 15107849]


[PMID 19141711OA-icon.png] Functional genetic variation in the basal promoter of the organic cation/carnitine transporters OCTN1 (SLC22A4) and OCTN2 (SLC22A5)



[PMID 21061378] Two independent genetic factors responsible for the associations of the IBD5 locus with Crohn's disease in the Czech population


[PMID 21674708] Two independent genetic factors responsible for the associations of the IBD5 locus with Crohn's disease in the Czech population


[PMID 15955786OA-icon.png] Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn's disease.


[PMID 16255050] Evidence for common genetic control in pathways of inflammation for Crohn's disease and psoriatic arthritis.


[PMID 16796743OA-icon.png] Evidence for the association of the SLC22A4 and SLC22A5 genes with type 1 diabetes: a case control study.


[PMID 17667713] Analysis of candidate genes on chromosomes 5q and 19p in celiac disease.


[PMID 17786191OA-icon.png] rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants.


[PMID 18698678OA-icon.png] Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult- and pediatric-onset inflammatory bowel disease in Italy.


[PMID 18715515OA-icon.png] Lack of evidence for association of primary sclerosing cholangitis and primary biliary cirrhosis with risk alleles for Crohn's disease in Polish patients.


[PMID 18756601OA-icon.png] OCTN and CARD15 gene polymorphism in Chinese patients with inflammatory bowel disease.


[PMID 19742321OA-icon.png] Genetic variation in the proximal promoter of ABC and SLC superfamilies: liver and kidney specific expression and promoter activity predict variation.


[PMID 20444268OA-icon.png] Peripheral blood gene expression patterns discriminate among chronic inflammatory diseases and healthy controls and identify novel targets.


GET Evidence
rs2631367
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.615385
summary



[PMID 23127916] Polymorphisms in OCTN1 and OCTN2 transporters genes are associated with prolonged time to progression in unresectable gastrointestinal stromal tumours treated with imatinib therapy


[PMID 24415875OA-icon.png] Susceptibility to ulcerative colitis in Hungarian patients determined by gene-gene interactions


ClinVar
Risk rs2631367(C;C)
Alt rs2631367(C;C)
Reference rs2631367(G;G)
Significance Untested
Disease Renal carnitine transport defect
Variation info
Gene LOC553103 SLC22A5
CLNDBN Renal carnitine transport defect
Reversed 1
HGVS NC_000005.9:g.131705458C\x3d
CLNSRC
CLNACC RCV000022284.2,



[PMID 26370461] Organic cation/carnitine transporter OCTN2 (SLC22A5) -207C>G (rs2631367) polymorphism is not associated with male infertility