PharmGKB: The Pharmacogenomics Knowledge Base

Disease:
Colitis, Ulcerative

Overview

Alternate Names: 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
  • MeSH: D003093 - Colitis, Ulcerative
  • SnoMed Clinical Terminology: 64766004 - Ulcerative colitis
  • Unified Medical Language System: C0009324 - C0009324

Curated Annotations (Curated Annotation)

  1. rs3024505 at chr1:205006527 in IL10
    A genome-wide association study in 1,167 individuals with ulcerative colitis and 777 healthy controls found significant association of this variant immediately flanking the IL10 gene and ulcerative colitis.
    Related Diseases:
    Colitis, Ulcerative
    Evidence:
    PMID:18836448
  2. rs917997 at chr2:102437000 in IL18RAP
    In a case - control study, this variant was shown to be strongly associated with susceptibility to Crohn's Disease and to Ulcerative Colitis.
    Related Diseases:
    Colitis, Ulcerative, Crohn Disease
    Evidence:
    PMID:18439550
  3. rs1045642 at chr7:86976581 in ABCB1
    There was no significant association between the genotype C3435T distribution and the risk of Cyclosporin A failure in steroid resistance ulcerative colitis (p = 0.23).
    Variant Name:
    ABCB1:3435C>T, mRNA 3853C>T, Ile1145Ile
    Related Drugs:
    cyclosporine
    Related Diseases:
    Colitis, Ulcerative
    Evidence:
    PMID:17206635
  4. rs2032582 at chr7:86998554 in ABCB1
    There is a significant association between the G2677T/A polymorphism distribution and the risk for cyclosporin A (CsA) failure in patients from France and Belgium with steroid resistance ulcerative colitis (p = 0.0001), defined as requiring colectomy within 30 days of CsA initiation. The 2677 TT genotype was significantly associated with the risk compared with the two other genotypes (odds ratio, 3.77; 95% confidence interval, 1.42-9.97, p = 0.007).
    Variant Name:
    ABCB1:2677G>T/A, mRNA 3095G>T/A, Ala893Ser/Thr
    Related Drugs:
    cyclosporine
    Related Diseases:
    Colitis, Ulcerative
    Evidence:
    PMID:17206635
  5. rs10870077 at chr9:138383712 in CARD9
    In a case - control study, this variant was shown to be associated with susceptibility to Crohn's Disease and to Ulcerative Colitis.
    Related Diseases:
    Colitis, Ulcerative, Crohn Disease
    Evidence:
    PMID:18439550

Non-Curated Annotations (Non-Curated Annotation)

  1. rs3806308 at chr1:20015453 in RNF186
    GWAS results: Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. (Initial Sample Size: 1,022 cases, 2,503 controls; Replication Sample Size: 1,387 cases, 1,115 controls); (Region: 1p36.13; Reported Gene(s): RNF186; Risk Allele: rs3806308-?); (p-value= 0.000000007).This variant is associated with Ulcerative colitis.
    Related Diseases:
    Colitis, Ulcerative
    Evidence:
    PMID:19122664
    http://www.genome.gov/gwastudies/
  2. rs6426833 at chr1:20044447
    GWAS results: Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. (Initial Sample Size: 1,022 cases, 2,503 controls; Replication Sample Size: 1,387 cases, 1,115 controls); (Region: 1p36.13; Reported Gene(s): OTUD3, PLA2G2E; Risk Allele: rs6426833-G); (p-value= 0.0000000000005).This variant is associated with Ulcerative colitis.
    Related Diseases:
    Colitis, Ulcerative
    Evidence:
    PMID:19122664
    http://www.genome.gov/gwastudies/
  3. rs11209026 at chr1:67478546 in IL23R
    GWAS results: Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. (Initial Sample Size: 1,022 cases, 2,503 controls; Replication Sample Size: 1,387 cases, 1,115 controls); (Region: 1p31.3; Reported Gene(s): IL23R; Risk Allele: rs11209026-?); (p-value= 0.00000001).This variant is associated with Ulcerative colitis.
    Related Diseases:
    Colitis, Ulcerative
    Evidence:
    PMID:19122664
    http://www.genome.gov/gwastudies/
  4. rs10889677 at chr1:67497708 in IL23R
    GWAS results: Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. (Initial Sample Size: 1,022 cases, 2,503 controls; Replication Sample Size: 1,387 cases, 1,115 controls); (Region: 1p31.3; Reported Gene(s): IL23R; Risk Allele: rs10889677-A); (p-value= 0.00000001).This variant is associated with Ulcerative colitis.
    Related Diseases:
    Colitis, Ulcerative
    Evidence:
    PMID:19122664
    http://www.genome.gov/gwastudies/
  5. rs3024505 at chr1:205006527 in IL10
    GWAS results: Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. (Initial Sample Size: 1,167 cases, 777 controls; Replication Sample Size: 1,855 cases, 3,091 controls); (Region: 1q32.1; Reported Gene(s): IL10; Risk Allele: rs3024505-T); (p-value= 9.99999999999999E-13).This variant is associated with Ulcerative colitis.
    Related Diseases:
    Colitis, Ulcerative
    Evidence:
    PMID:18836448
    http://www.genome.gov/gwastudies/
  6. rs3024505 at chr1:205006527 in IL10
    Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. (Initial Sample Size: 1,167 cases, 777 controls; Replication Sample Size: 1,855 cases, 3,091 controls); (Region: 1q32.1; Reported Gene: IL10; Risk Allele: rs3024505-T) This variant is associated with Ulcerative colitis.
    Related Diseases:
    Colitis, Ulcerative
    Evidence:
    PMID:18836448
    http://www.genome.gov/gwastudies/
  7. rs9268877 at chr6:32539125 in HLA-DRB9
    GWAS results: Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. (Initial Sample Size: 1,167 cases, 777 controls; Replication Sample Size: 1,855 cases, 3,091 controls); (Region: 6p21.32; Reported Gene(s): HLA-DRA, BTNL2; Risk Allele: rs9268877-T); (p-value= 5.99999999999999E-18).This variant is associated with Ulcerative colitis.
    Related Diseases:
    Colitis, Ulcerative
    Evidence:
    PMID:18836448
    http://www.genome.gov/gwastudies/
  8. rs9268877 at chr6:32539125 in HLA-DRB9
    Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. (Initial Sample Size: 1,167 cases, 777 controls; Replication Sample Size: 1,855 cases, 3,091 controls); (Region: 6p21.32; Reported Gene: HLA-DRA, BTNL2; Risk Allele: rs9268877-T) This variant is associated with Ulcerative colitis.
    Related Diseases:
    Colitis, Ulcerative
    Evidence:
    PMID:18836448
    http://www.genome.gov/gwastudies/
  9. rs2395185 at chr6:32541145 in HLA-DRB9
    GWAS results: Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. (Initial Sample Size: 1,022 cases, 2,503 controls; Replication Sample Size: 1,387 cases, 1,115 controls); (Region: 6p21.32; Reported Gene(s): BTNL2, HLA-DRA, HLA-DRB5, HLA-DRB1, HLA-DQA1, HLA-DQB1; Risk Allele: rs2395185-?); (p-value= 0.0000000000000001).This variant is associated with Ulcerative colitis.
    Related Diseases:
    Colitis, Ulcerative
    Evidence:
    PMID:19122664
    http://www.genome.gov/gwastudies/
  10. rs4730273 at chr7:107266755
    GWAS results: Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. (Initial Sample Size: 1,022 cases, 2,503 controls; Replication Sample Size: 1,387 cases, 1,115 controls); (Region: 7q31.1; Reported Gene(s): Intergenic; Risk Allele: rs4730273-?); (p-value= 0.000005).This variant is associated with Ulcerative colitis.
    Related Diseases:
    Colitis, Ulcerative
    Evidence:
    PMID:19122664
    http://www.genome.gov/gwastudies/
  11. rs4730276 at chr7:107271673
    GWAS results: Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. (Initial Sample Size: 1,022 cases, 2,503 controls; Replication Sample Size: 1,387 cases, 1,115 controls); (Region: 7q31.1; Reported Gene(s): SLC26A3, DLD, LAMB1; Risk Allele: rs4730276-?); (p-value= 0.000009).This variant is associated with Ulcerative colitis.
    Related Diseases:
    Colitis, Ulcerative
    Evidence:
    PMID:19122664
    http://www.genome.gov/gwastudies/
  12. rs4598195 at chr7:107290677
    GWAS results: Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. (Initial Sample Size: 1,022 cases, 2,503 controls; Replication Sample Size: 1,387 cases, 1,115 controls); (Region: 7q31.1; Reported Gene(s): SLC26A3, DLD, LAMB1; Risk Allele: rs4598195-?); (p-value= 0.000001).This variant is associated with Ulcerative colitis.
    Related Diseases:
    Colitis, Ulcerative
    Evidence:
    PMID:19122664
    http://www.genome.gov/gwastudies/
  13. rs2158836 at chr7:107368075 in LAMB1
    GWAS results: Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. (Initial Sample Size: 1,022 cases, 2,503 controls; Replication Sample Size: 1,387 cases, 1,115 controls); (Region: 7q31.1; Reported Gene(s): SLC26A3, DLD, LAMB1; Risk Allele: rs2158836-A); (p-value= 0.000007).This variant is associated with Ulcerative colitis.
    Related Diseases:
    Colitis, Ulcerative
    Evidence:
    PMID:19122664
    http://www.genome.gov/gwastudies/
  14. rs668853 at chr9:84500967
    GWAS results: Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. (Initial Sample Size: 1,022 cases, 2,503 controls; Replication Sample Size: 1,387 cases, 1,115 controls); (Region: 9q21.32; Reported Gene(s): Intergenic; Risk Allele: rs668853-G); (p-value= 0.000002).This variant is associated with Ulcerative colitis.
    Related Diseases:
    Colitis, Ulcerative
    Evidence:
    PMID:19122664
    http://www.genome.gov/gwastudies/
  15. rs1558744 at chr12:66790859
    GWAS results: Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. (Initial Sample Size: 1,022 cases, 2,503 controls; Replication Sample Size: 1,387 cases, 1,115 controls); (Region: 12q15; Reported Gene(s): IFNG, IL26, IL22; Risk Allele: rs1558744-A); (p-value= 0.000000000003).This variant is associated with Ulcerative colitis.
    Related Diseases:
    Colitis, Ulcerative
    Evidence:
    PMID:19122664
    http://www.genome.gov/gwastudies/
  16. rs2870946 at chr12:66882928 in IL26
    GWAS results: Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. (Initial Sample Size: 1,022 cases, 2,503 controls; Replication Sample Size: 1,387 cases, 1,115 controls); (Region: 12q15; Reported Gene(s): IL26; Risk Allele: rs2870946-G); (p-value= 0.0000005).This variant is associated with Ulcerative colitis.
    Related Diseases:
    Colitis, Ulcerative
    Evidence:
    PMID:19122664
    http://www.genome.gov/gwastudies/
Variant names are different names that have been used in the literature and other resources to refer to the same variant. Non-curated variant information is accumulated solely by computational methods and has not been verified by the scientific staff at PharmGKB.

Curated Information

The following genes are in curated knowledge about this disease.

  Gene Relationship Evidence
Phenotype data available Genotype Data Available Literature annotations available Has annotations
ABCB1
  • CO
  •   
  •   
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
CARD9
  • CO
  •   
  •   
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
HLA-B
  •   
  •   
  •   
  •   
  • GN
Publications
No phenotype data Genotype Data Available Literature annotations available Not annotated
IL10
  •   
  •   
  •   
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
IL17REL
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
IL18RAP
  • CO
  •   
  •   
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
IL23R
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
ITPA
  • CO
  •   
  •   
  •   
  • GN
Publications

Non-Curated Information

A list of non-curated publications that mention this disease along with other genes is available.

Curated Information

The following drugs are in curated knowledge about this disease.

  Drug Relationship Evidence
Phenotype data available Genotype Data Available Literature annotations available Not annotated
azathioprine
  • CO
  •   
  •   
  •   
  • GN
Publications

Non-Curated Information

A list of non-curated publications that mention this disease along with other drugs is available.

Non-Curated Information

A list of non-curated publications that mention this disease along with other diseases is available.

Common Searches

Search Medline Plus
Search CTD

Non-Curated Publications

A list of non-curated publications that mention this disease is available.

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