rs3764147

This is a variant in the LACC1 gene that changes a isoleucine to an valine.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

leprosy

Zhang FR et al. “Genomewide association study of leprosy.” The New England Journal of Medicine 361(27):2609-18 (2009)
Allele G
OR 1.68
p 4.0e-54
N 1,931
Large GWAS
East Asian
Gzara C et al. “Family-based genome-wide association study of leprosy in Vietnam.” Plos Pathogens 16(5):e1008565 (2020)
Allele G
OR 1.52
p 5.0e-14
N 1,749
Large GWAS
South East Asian

Crohn's disease

Jostins L et al. “Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.” Nature 491(7422):119-24 (2012)
Allele G
OR 1.16
p 2.0e-21
N 34,366
Large GWAS
European
Kim K et al. “Regulatory Variants on the Leukocyte Immunoglobulin-Like Receptor Gene Cluster are Associated with Crohn's Disease and Interact with Regulatory Variants for TAP2.” Journal of Crohn's & Colitis 18(1):47-53 (2024)
Allele G
OR 1.25
p 4.0e-10
N 79,121
Large GWAS
East Asian
Franke A et al. “Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.” Nature Genetics 42(12):1118-25 (2010)
Allele G
OR 1.17
p 1.0e-10
N 21,389
Meta-analysisLarge GWAS
European
Barrett JC et al. “Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.” Nature Genetics 40(8):955-62 (2008)
Allele G
OR 1.25
p 2.0e-13
N 8,059
Large GWAS
European
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ClinVar annotation

Benign★☆☆☆
5 submitters4 publications

Juvenile arthritis due to defect in LACC1; Leprosy, susceptibility to, 1; not specified

View on ClinVar →
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Research that mentions this SNP (2)

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Limited use of interleukin 28B in the setting of response-guided treatment with detailed on-treatment virological monitoring
ReviewAlessandra Mangia et al.(2011)· Hepatology

This is a special issue of the Italian medical journal BeAdfiles (September 2012) dedicated to genetic conditioning in HIV and hepatitis virus infections. It reviews the major genetic polymorphisms that influence disease progression, treatment response, and drug toxicity in HIV and chronic hepatitis B and C infections, with particular emphasis on IL28B polymorphisms (rs809917 and others) predicting HCV treatment response to interferon-alpha and ribavirin therapy, and ITPA gene variants protecting against ribavirin-induced anemia. The issue also covers pharmacogenetic markers (CYP2B6, ABCB1, HLA-B*5701) and their clinical applications in antiretroviral therapy.

Traits studied:AIDS progressionAntiretroviral therapy toxicityChronic hepatitis C sustained virological responseCreutzfeldt-Jakob diseaseDyslipidemiaEfavirenz side effectsHIV infection and progressionHepatitis B virus infectionHepatitis C genotype 1 response to interferonHepatitis C virus infectionHyperbilirubinemiaLeprosyLipodystrophyNeisseria meningitidis infectionNorovirus diarrheaPlasmodium falciparum malariaPlasmodium vivax malariaRenal impairmentRibavirin-induced anemiaTreatment response to interferon and ribavirinTuberculosis
PubMedDOIMetascience Observatory
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Association between genome-wide association studies reported SNPs and pediatric-onset Crohn’s disease in Canadian children
AssociationN=1,116Devendra K. Amre et al.(2010)· Human Genetics

This case-control study of 563 Canadian children with pediatric-onset Crohn's disease and 553 controls confirmed associations between SNPs at two novel pediatric-specific loci (rs1250550 at 10q22.3, p=0.026; rs8049439 at 16p11.2, p=0.04) and disease susceptibility. Additionally, 6 of 16 previously reported adult CD loci were significantly associated with pediatric CD, demonstrating substantial genetic overlap between disease forms.

Traits studied:Crohn's diseaseInflammatory bowel disease
PubMedDOIMetascience Observatory

About LACC1

This gene encodes an oxidoreductase that promotes fatty-acid oxidation, with concomitant inflammasome activation, mitochondrial and NADPH-oxidase-dependent reactive oxygen species production, and bactericidal activity of macrophages. The encoded protein forms a complex with fatty acid synthase on peroxisomes and is thought to be modulated by peroxisome proliferator-activated receptor signaling events. Naturally occurring mutations in this gene are associated with inflammatory bowel disease, Behcet's disease, leprosy, ulcerative colitis, early-onset Crohn's disease, and systemic juvenile idiopathic arthritis. [provided by RefSeq, Apr 2017]

View all LACC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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