rs12571751

This is a intron variant variant in the ZMIZ1 gene.

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GWAS Catalog Trait Associations (1)

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

type 2 diabetes mellitus

Huerta-Chagoya A et al. “Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.” Nature Genetics 56(11):2370-2379 (2024)
Allele G
OR 0.08
p 3.0e-23
N 421,743
Large GWAS
multi-ancestry
Zhao W et al. “Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.” Nature Genetics 49(10):1450-1457 (2017)
Allele G
OR 0.07
p 3.0e-11
N 183,651
Large GWAS
multi-ancestry
Mahajan A et al. “Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.” Nature Genetics 46(3):234-44 (2014)
Allele G
OR 1.09
p 2.0e-10
N 110,452
Meta-analysisLarge GWAS
multi-ancestry
Morris AP et al. “Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes” Nature Genetics (2012)
Allele G
OR 1.08
p 1.0e-10
N 69,033
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Systematic search for single nucleotide polymorphisms in a lymphoid tyrosine phosphatase gene (PTPN22): Association between a promoter polymorphism and type 1 diabetes in Asian populations
ReviewEiji Kawasaki et al.(2006)· American Journal of Medical Genetics Part A

This review examines slowly progressive type 1 diabetes mellitus (SPIDDM), also known as latent autoimmune diabetes in adults (LADA), discussing its pathogenesis, diagnostic markers, and genetic associations. Key findings include T-cell-mediated insulitis and pseudoatrophic islets characteristic of type 1 diabetes, absence of amyloid deposition seen in type 2 diabetes, and identification of multiple genetic susceptibility loci including HLA haplotypes, PTPN22 rs2476601, INS rs689, CTLA4, TCF7L2 rs7903146, ZMIZ1 rs12571751, SH2B3 rs7310615, and PFKFB3 rs1983890. GAD autoantibodies and HLA genotypes are important risk factors for beta-cell failure progression.

Traits studied:Acute-onset type 1 diabetesFulminant type 1 diabetesLatent autoimmune diabetes in adultsSlowly progressive type 1 diabetes mellitusType 1 diabetesType 2 diabetes
PubMedDOIMetascience Observatory

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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