rs1250550
This is a intron variant variant in the ZMIZ1 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Crohn's disease
ankylosing spondylitis
multiple sclerosis
▶Research that mentions this SNP (4)
▶Associations Between Genetic Variants in the IRGM Gene and Inflammatory Bowel Diseases in the Korean PopulationAssociationN=400Chang Mo Moon et al.(2013)· Inflammatory Bowel Diseases
This PhD thesis by Paul Henderson comprises multiple studies on paediatric inflammatory bowel disease (PIBD) in Scotland, including epidemiological studies documenting a 76% rise in IBD incidence, genetic association studies identifying ICOSLG SNP rs8126734-A as overtransmitted in IBD/CD (p=0.0467, OR 1.85 for CD; p=0.0084), CRP gene variants rs1130864-A and rs1417938-A associated with PIBD susceptibility (OR 1.56-1.89 for CD), and functional characterization of NOD2 and autophagy pathways in Crohn's disease pathogenesis.
▶Phenotype–Genotype Profiles in Crohnʼs Disease Predicted by Genetic Markers in Autophagy-Related Genes (GOIA Study II)AssociationN=448Cecília Durães et al.(2013)· Inflammatory Bowel Diseases
This PhD thesis encompasses multiple studies on pediatric inflammatory bowel disease (IBD): epidemiological analysis shows rising incidence in Scotland (4.45 to 7.82 per 100,000 per year); transmission disequilibrium testing identified rs8126734-A as overtransmitted in IBD and CD (OR 1.48, p=0.047; OR 1.85 for CD, p=0.008); genome-wide association meta-analysis confirmed strong signals in ICOSLG 3'UTR for CD susceptibility; CRP gene variants (rs1417938, rs1130864) showed significant overtransmission (p=0.006, p=0.015); and faecal calprotectin demonstrated superior diagnostic accuracy for PIBD detection (sensitivity 0.93, specificity 0.74).
▶Genome‐wide meta‐analysis identifies novel multiple sclerosis susceptibility lociMeta-analysisN=17,698Patsopoulos NA et al.(2011)· Annals of Neurology
This meta-analysis of 7 genome-wide association studies identified three novel multiple sclerosis susceptibility loci: rs170934 near EOMES (3p24.1, OR=1.17, P=1.6×10⁻⁸), rs2150702 in MLANA (9p24.1, OR=1.16, P=3.3×10⁻⁸), and rs6718520 near THADA (2p21, OR=1.17, P=3.4×10⁻⁸). The analysis encompassed 5,545 cases and 12,153 controls and identified 10 additional loci with suggestive evidence of association (P<1×10⁻⁶), including IL12B, TAGAP, PLEK, and ZMIZ1, which are shared with other inflammatory diseases.
▶Association between genome-wide association studies reported SNPs and pediatric-onset Crohn’s disease in Canadian childrenAssociationN=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.
About ZMIZ1
This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]
View all ZMIZ1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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