{{Rsnum
|rsid=2631367
|Gene=SLC22A5
|Chromosome=5
|position=132369766
|Orientation=minus
|GMAF=0.3196
|Gene_s=MIR4750,SLC22A5
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(C;G)
|geno3=(C;C)
}}[[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 = 1.31â€“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 Auto
|PMID=19141711
|Title=Functional genetic variation in the basal promoter of the organic cation/carnitine transporters OCTN1 (SLC22A4) and OCTN2 (SLC22A5)
|OA=1
}}

{{PharmGKB
|RSID=rs2631367
|Name_s=SLC22A5: ?207G>C
|Gene_s=SLC22A5
|Feature=5' UTR
|Evidence=PubMed ID:19940846
|Annotation=No appreciable effect of this variant on carnitine disposition
|Drugs=l-carnitine
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA165111612
}}

{{PharmGKB
|RSID=rs2631367
|Name_s=SLC22A5: ?207G>C
|Gene_s=SLC22A5
|Feature=5' UTR
|Evidence=PubMed ID:19940846
|Annotation=&#8722;207G allele is associated with increased l-carnitine transport.
|Drugs=l-carnitine
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA165111572
}}
{{PMID Auto
|PMID=21061378
|Title=Two independent genetic factors responsible for the associations of the IBD5 locus with Crohn's disease in the Czech population
}}

{{PMID Auto
|PMID=21674708
|Title=Two independent genetic factors responsible for the associations of the IBD5 locus with Crohn's disease in the Czech population
}}

{{PMID Auto
|PMID=15955786
|Title=Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn's disease.
|OA=1
}}

{{PMID Auto
|PMID=16255050
|Title=Evidence for common genetic control in pathways of inflammation for Crohn's disease and psoriatic arthritis.
}}

{{PMID Auto
|PMID=16796743
|Title=Evidence for the association of the SLC22A4 and SLC22A5 genes with type 1 diabetes: a case control study.
|OA=1
}}

{{PMID Auto
|PMID=17667713
|Title=Analysis of candidate genes on chromosomes 5q and 19p in celiac disease.
}}

{{PMID Auto
|PMID=17786191
|Title=rs1004819 is the main disease-associated IL23R variant in German Crohn's disease patients: combined analysis of IL23R, CARD15, and OCTN1/2 variants.
|OA=1
}}

{{PMID Auto
|PMID=18698678
|Title=Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult- and pediatric-onset inflammatory bowel disease in Italy.
|OA=1
}}

{{PMID Auto
|PMID=18715515
|Title=Lack of evidence for association of primary sclerosing cholangitis and primary biliary cirrhosis with risk alleles for Crohn's disease in Polish patients.
|OA=1
}}

{{PMID Auto
|PMID=18756601
|Title=OCTN and CARD15 gene polymorphism in Chinese patients with inflammatory bowel disease.
|OA=1
}}

{{PMID Auto
|PMID=19742321
|Title=Genetic variation in the proximal promoter of ABC and SLC superfamilies: liver and kidney specific expression and promoter activity predict variation.
|OA=1
}}

{{PMID Auto
|PMID=20444268
|Title=Peripheral blood gene expression patterns discriminate among chronic inflammatory diseases and healthy controls and identify novel targets.
|OA=1
}}

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2631367
|overall_frequency_n=32
|overall_frequency_d=52
|overall_frequency=0.615385
|n_genomes=16
|n_genomes_annotated=0
|n_haplomes=30
|n_articles=1
|n_articles_annotated=0
|in_pharmgkb=Y
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=23127916
|Title=Polymorphisms in OCTN1 and OCTN2 transporters genes are associated with prolonged time to progression in unresectable gastrointestinal stromal tumours treated with imatinib therapy
}}

{{PMID Auto
|PMID=24415875
|Title=Susceptibility to ulcerative colitis in Hungarian patients determined by gene-gene interactions
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}