rs2301436

This is a intron variant variant in the CEP43 gene.

▶

GWAS Catalog Trait Associations (2)

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

Crohn's disease

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 T
OR 1.21
p 1.0e-12
N 8,059
Large GWAS
European

Myasthenia gravis

Braun A et al. “Genome-wide meta-analysis of myasthenia gravis uncovers new loci and provides insights into polygenic prediction.” Nature Communications 15(1):9839 (2024)
Allele T
OR 1.09
p 2.0e-8
N 437,736
Meta-analysisLarge GWAS
European
▶

Research that mentions this SNP (2)

▶
Distinct and overlapping genetic loci in crohnʼs disease and ulcerative colitis: Correlations with pathogenesis
AssociationN=3,431Matti Waterman et al.(2011)· Inflammatory Bowel Diseases

This study examined 40 SNPs (34 CD-associated and 6 UC-associated) in 2374 Canadian IBD patients (1144 CD, 1230 UC/IBDU) and 1057 healthy controls. While most immune-related variants showed similar frequencies between CD and UC, the two diseases diverged significantly in genes related to innate immunity and autophagy (NOD2, ATG16L1, IRGM), which were more prevalent in CD. In patients with colon-only CD, genetic overlap with UC was nearly complete, suggesting a shared genetic basis for colonic disease.

Traits studied:Crohn's diseaseInflammatory bowel disease (IBD)Ulcerative colitis
PubMedDOIMetascience Observatory
▶
Association of IL23R, TNFRSF1A, and HLA-DRB1*0103 allele variants with inflammatory bowel disease phenotypes in the Finnish population
AssociationN=7,457Maarit Lappalainen et al.(2008)· Inflammatory Bowel Diseases

PhD thesis describing comprehensive genome-wide association studies of acute anterior uveitis (AAU) in European (2,752 cases, 3,836 controls) and East Asian (821 cases, 4,898 controls) populations. European descent GWAS identified HLA-B at genome-wide significance plus 11 suggestive loci (ERAP1, NOS2, MERTK). East Asian GWAS identified HLA-B and ERAP1 at genome-wide significance plus 12 suggestive loci (GPR68, RHBDD2). Mendelian randomization confirmed ERAP1 as functionally relevant and showed genetically predicted CRP levels positively associated with AAU risk.

Traits studied:Acute anterior uveitis (AAU)Ankylosing spondylitis (AS)Spondyloarthropathies
PubMedDOIMetascience Observatory

About CEP43

This gene encodes a largely hydrophilic centrosomal protein that is required for anchoring microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the fibroblast growth factor receptor 1 (FGFR1) gene, has been found in cases of myeloproliferative disorder. The resulting chimeric protein contains the N-terminal leucine-rich region of this encoded protein fused to the catalytic domain of FGFR1. Alterations in this gene may also be associated with Crohn's disease, Graves' disease, and vitiligo. Alternatively spliced transcript variants that encode different proteins have been identified. [provided by RefSeq, Jul 2013]

View all CEP43 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…