Disease:
Colitis, Ulcerative

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page.

Gene ? Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No VIP available VA CYP3A5 *1A N/A N/A N/A
No VIP available No VIP available VA CYP3A5 *3A N/A N/A N/A
No VIP available No VIP available No VIP available NAT1 *3 N/A N/A N/A
No VIP available No VIP available No VIP available NAT1 *4 N/A N/A N/A
No VIP available No VIP available No VIP available NAT1 *10 N/A N/A N/A
No VIP available No VIP available VA TPMT *3A N/A N/A N/A
No VIP available CA VA
rs1045642 NC_000007.13:g.87138645A>G, NC_000007.14:g.87509329A>G, NG_011513.1:g.208920T>C, NM_000927.4:c.3435T>C, NP_000918.2:p.Ile1145=, rs10239679, rs11568726, rs117328163, rs17210003, rs2229108, rs386513066, rs60023214, rs9690664
A > G
SNP
I1145I
No VIP available CA VA
rs10499563 NC_000007.13:g.22760488T>C, NC_000007.14:g.22720869T>C, rs111176551, rs58479127
T > C
SNP
No VIP available CA VA
rs1128503 NC_000007.13:g.87179601A>G, NC_000007.14:g.87550285A>G, NG_011513.1:g.167964T>C, NM_000927.4:c.1236T>C, NP_000918.2:p.Gly412=, rs116989428, rs17276907, rs2032587, rs2229105, rs28365046, rs386518005, rs58257317
A > G
SNP
G412G
No VIP available No Clinical Annotations available VA
rs116855232 NC_000013.10:g.48619855C>T, NC_000013.11:g.48045719C>T, NM_018283.2:c.415C>T, NP_060753.1:p.Arg139Cys
C > T
SNP
R139C
No VIP available CA VA
rs11938228 NC_000004.11:g.154621946C>A, NC_000004.12:g.153700794C>A, NG_016229.1:g.21506C>A, NM_001318787.1:c.-300-1433C>A, NM_001318789.1:c.-16-2098C>A, NM_001318790.1:c.-16-2098C>A, NM_001318791.1:c.-16-2098C>A, NM_001318793.1:c.-16-2098C>A, NM_001318795.1:c.-16-2098C>A, NM_001318796.1:c.-16-2098C>A, NM_003264.4:c.-16-2098C>A, XM_005263193.1:c.-1733C>A, XM_005263193.2:c.-1733C>A, XM_005263194.1:c.-16-2098C>A, XM_005263194.2:c.-16-2098C>A, XM_005263195.1:c.-16-2098C>A, XM_005263195.2:c.-16-2098C>A, XM_005263196.1:c.-16-2098C>A, XM_005263196.2:c.-16-2098C>A, XM_005263197.1:c.-16-2098C>A, XM_005263197.2:c.-16-2098C>A, XM_011532215.1:c.-16-2098C>A, XM_011532216.1:c.-16-2098C>A, rs56940691
C > A
SNP
No VIP available No Clinical Annotations available VA
rs12343867
T > C
SNP
No VIP available No Clinical Annotations available VA
rs17250932
T > C
SNP
No VIP available No Clinical Annotations available VA
rs1946518 NC_000011.10:g.112164735T>G, NC_000011.9:g.112035458T>G, NG_028143.1:g.4383A>C, NM_001243211.1:c.-838A>C, NM_001562.3:c.-838A>C, XM_005271612.1:c.-24-4510T>G, XM_011542805.1:c.-859A>C, XM_011542806.1:c.-859A>C, rs57159524
T > G
SNP
No VIP available CA VA
rs2032582 NC_000007.13:g.87160618A>C, NC_000007.13:g.87160618A>T, NC_000007.14:g.87531302A>C, NC_000007.14:g.87531302A>T, NG_011513.1:g.186947T>A, NG_011513.1:g.186947T>G, NM_000927.4:c.2677T>A, NM_000927.4:c.2677T>G, NP_000918.2:p.Ser893Ala, NP_000918.2:p.Ser893Thr, rs10228331, rs2229106, rs386553610, rs57135550, rs9641018
A > C
A > T
SNP
S893A
No VIP available No Clinical Annotations available VA
rs2234711
A > G
SNP
No VIP available CA VA
rs2275913 NC_000006.11:g.52051033G>A, NC_000006.12:g.52186235G>A, NG_033021.1:g.4849G>A, NM_002190.2:c.-197G>A, rs60644204
G > A
SNP
No VIP available CA VA
rs2569190 NC_000005.10:g.140633331A>G, NC_000005.9:g.140012916A>G, NG_023178.1:g.5371T>C, NM_000591.3:c.-260T>C, NM_001040021.2:c.-121-139T>C, NM_001174104.1:c.-221-39T>C, NM_001174105.1:c.-121-139T>C, XM_011537665.1:c.-129-8334A>G, rs17524551, rs59568848
A > G
SNP
No VIP available CA VA
rs4251961 NC_000002.11:g.113874467T>C, NC_000002.12:g.113116890T>C, NG_021240.1:g.3998T>C, NM_000577.4:c.-1129T>C, NM_001318914.1:c.-1411T>C, NM_173841.2:c.-1129T>C, NM_173843.2:c.-1348T>C, XM_005263662.1:c.-272-3176T>C, XM_005263663.1:c.-1411T>C, XM_006712497.2:c.-1411T>C, XM_011511121.1:c.-272-3176T>C, rs36215122, rs56470350, rs61468703
T > C
SNP
No VIP available CA VA
rs4696480 NC_000004.11:g.154607126T>A, NC_000004.12:g.153685974T>A, NG_016229.1:g.6686T>A, NM_001318787.1:c.-373+1614T>A, NM_001318789.1:c.-163+1614T>A, NM_001318790.1:c.-163+1637T>A, NM_001318791.1:c.-129+1614T>A, NM_001318793.1:c.-148+1637T>A, NM_001318795.1:c.-104+1614T>A, NM_001318796.1:c.-89+1614T>A, NM_003264.4:c.-148+1614T>A, XM_005263194.1:c.-163+1614T>A, XM_005263194.2:c.-163+1614T>A, XM_005263195.1:c.-89+1614T>A, XM_005263195.2:c.-89+1614T>A, XM_005263196.1:c.-129+1614T>A, XM_005263196.2:c.-129+1614T>A, XM_005263197.1:c.-104+1614T>A, XM_005263197.2:c.-104+1614T>A, XM_011532215.1:c.-70+1614T>A, XM_011532216.1:c.-17+1614T>A, rs5743686, rs61645525
T > A
SNP
No VIP available CA VA
rs4848306 NC_000002.11:g.113598107G>A, NC_000002.12:g.112840530G>A, NG_008851.1:g.1250C>T, rs61213149
G > A
SNP
No VIP available CA VA
rs6927172 NC_000006.11:g.138002175C>G, NC_000006.12:g.137681038C>G, rs17264164
C > G
SNP
No VIP available CA No Variant Annotations available
rs776746 NC_000007.13:g.99270539C>T, NC_000007.14:g.99672916T>C, NG_007938.1:g.12083G=, NG_007938.1:g.12083G>A, NM_000777.4:c.219-237A>G, NM_000777.4:c.219-237G>A, NM_001190484.2:c.219-237A>G, NM_001190484.2:c.219-237G>A, NM_001291829.1:c.-253-1A>G, NM_001291829.1:c.-253-1G>A, NM_001291830.1:c.189-237A>G, NM_001291830.1:c.189-237G>A, NR_033807.2:n.717-1A>G, NR_033807.2:n.717-1G>A, NR_033808.1:n.689-1G>A, NR_033809.1:n.581-237G>A, NR_033810.1:n.689-1G>A, NR_033811.1:n.321-1G>A, NR_033812.1:n.321-1G>A, XM_005250169.1:c.189-237G>A, XM_005250170.1:c.-357-1G>A, XM_005250171.1:c.-253-1G>A, XM_005250172.1:c.-254G>A, XM_005250173.1:c.-331-237G>A, XM_005250198.1:c.806-4288C>T, XM_006715859.2:c.219-237A>G, XM_011515843.1:c.-254A>G, XM_011515844.1:c.-229-237A>G, XM_011515845.1:c.-463-1A>G, XM_011515846.1:c.-331-237A>G, XM_011515847.1:c.-571-1A>G, XR_927383.1:n.344-237A>G, XR_927402.1:n.1466+48736T>C, rs10361242, rs11266830, rs386613022, rs58244770
C > T
SNP
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Alternate Names: 
Synonym
Chronic ulcerative colitis; Chronic ulcerative colitis, NOS; Colitides, Ulcerative; Colitis gravis; Colitis gravis, NOS; Hemorrhagic Proctocolitides; Hemorrhagic Proctocolitis; Hemorrhagic Rectocolitides; Hemorrhagic Rectocolitis; Idiopathic proctocolitis; Proctocolitides, Hemorrhagic; Proctocolitides, Ulcerative; Proctocolitis, Hemorrhagic; Proctocolitis, Ulcerative; Rectocolitides, Hemorrhagic; Rectocolitides, Ulcerative; Rectocolitis, Hemorrhagic; Rectocolitis, Ulcerative; UC - Ulcerative colitis; Ulcerative Colitides; Ulcerative Colitis; Ulcerative Proctocolitides; Ulcerative Proctocolitis; Ulcerative Rectocolitides; Ulcerative Rectocolitis; Ulcerative colitis; Ulcerative colitis, NOS
PharmGKB Accession Id: PA443750
External Vocabularies

Curated Information ?

Curated Information ?

Relationships from National Drug File - Reference Terminology (NDF-RT)

May Treat
Contraindicated With
No related diseases are available

Publications related to Colitis, Ulcerative: 30

No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
ATP-binding cassette subfamily B member 1 1236C/T polymorphism significantly affects the therapeutic outcome of tacrolimus in patients with refractory ulcerative colitis. Journal of gastroenterology and hepatology. 2017. Onodera Motoyuki, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Genetically determined high activity of IL-12 and IL-18 in ulcerative colitis and TLR5 in Crohns disease were associated with non-response to anti-TNF therapy. The pharmacogenomics journal. 2017. Bank S, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
The effect of CYP3A5 genetic polymorphisms on adverse events in patients with ulcerative colitis treated with tacrolimus. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver. 2016. Asada Ayumi, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Nudt15 C415t Variant as a Predictor For Thiopurine Induced Toxicity in Indian Patients. Journal of gastroenterology and hepatology. 2016. Shah Swarup A V, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Thiopurine metabolites variations during co-treatment with aminosalicylates for inflammatory bowel disease: effect of N-acetyl transferase polymorphisms. World journal of gastroenterology : WJG. 2015. Stocco Gabriele, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Associations between functional polymorphisms in the NFκB signaling pathway and response to anti-TNF treatment in Danish patients with inflammatory bowel disease. The pharmacogenomics journal. 2014. Bank S, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PharmGKB summary: very important pharmacogene information for N-acetyltransferase 2. Pharmacogenetics and genomics. 2014. McDonagh Ellen M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Allele-specific methylation occurs at genetic variants associated with complex disease. PloS one. 2014. Hutchinson John N, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Normalization of plasma 25-hydroxy vitamin D is associated with reduced risk of surgery in Crohn's disease. Inflammatory bowel diseases. 2013. Ananthakrishnan Ashwin N, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
CYP3A5 genetic polymorphisms affect the pharmacokinetics and short-term remission in patients with ulcerative colitis treated with tacrolimus. Journal of gastroenterology and hepatology. 2013. Hirai Fumihito, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Improving Case Definition of Crohn's Disease and Ulcerative Colitis in Electronic Medical Records Using Natural Language Processing: A Novel Informatics Approach. Inflammatory bowel diseases. 2013. Ananthakrishnan Ashwin N, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Influence of polymorphisms and TNF and IL1beta serum concentration on the infliximab response in Crohn's disease and ulcerative colitis. European journal of clinical pharmacology. 2013. Lacruz-Guzmán Diana, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Psychiatric co-morbidity is associated with increased risk of surgery in Crohn's disease. Alimentary pharmacology & therapeutics. 2013. Ananthakrishnan A N, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants. PLoS genetics. 2012. Zou Fanggeng, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
ABCB1 Single-Nucleotide Polymorphisms Determine Tacrolimus Response in Patients With Ulcerative Colitis. Clinical pharmacology and therapeutics. 2011. Herrlinger K R, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL). Nature genetics. 2010. Franke Andre, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Decreased sigmoidal ABCB1 (P-glycoprotein) expression in ulcerative colitis is associated with disease activity. Pharmacogenomics. 2009. Ufer Mike, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
HLA-B is the best candidate of susceptibility genes in HLA for Japanese ulcerative colitis. Tissue antigens. 2009. Aizawa H, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. Nature genetics. 2008. Franke Andre, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Long-term outcome of using allopurinol co-therapy as a strategy for overcoming thiopurine hepatotoxicity in treating inflammatory bowel disease. Alimentary pharmacology & therapeutics. 2008. Ansari A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP. American journal of human genetics. 2008. Zhernakova Alexandra, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Multidrug resistance gene-1 polymorphisms and resistance to cyclosporine A in patients with steroid resistant ulcerative colitis. Inflammatory bowel diseases. 2007. Daniel Fady, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science (New York, N.Y.). 2006. Duerr Richard H, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Polymorphisms in multidrug resistance 1 (MDR1) gene are associated with refractory Crohn disease and ulcerative colitis. Genes and immunity. 2004. Potocnik U, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Adverse drug reactions to azathioprine therapy are associated with polymorphism in the gene encoding inosine triphosphate pyrophosphatase (ITPase). Pharmacogenetics. 2004. Marinaki Anthony M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Mistaken identity: misclassification of TPMT phenotype following blood transfusion. European journal of gastroenterology & hepatology. 2003. Cheung Seau-Tak, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Veno-occlusive disease, nodular regenerative hyperplasia and hepatocellular carcinoma after azathioprine treatment in a patient with ulcerative colitis. European journal of gastroenterology & hepatology. 2001. Russmann S, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Allelic variants of the thiopurine S-methyltransferase deficiency in patients with ulcerative colitis and in healthy controls. The American journal of gastroenterology. 2000. Corominas H, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Clinical pharmacokinetics of sulphasalazine. Clinical pharmacokinetics. 1976. Das K M, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Ulcerative colitis and erythrocyte G6PD deficiency. Salicylazosulfapyridine-provoked hemolysis. JAMA : the journal of the American Medical Association. 1968. Cohen S M, et al. PubMed