rs11558471
This is a 3 prime utr variant variant in the SLC30A8 gene.
▶GWAS Catalog Trait Associations (15)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (15)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶Research that mentions this SNP (3)
▶Transethnic insight into the genetics of glycaemic traits: fine-mapping results from the Population Architecture using Genomics and Epidemiology (PAGE) consortiumAssociationN=26,760Stephanie A. Bien et al.(2017)· Diabetologia
Transethnic fine-mapping study of glycaemic traits in 26,760 participants (Hispanic/Latino, African, Asian, and Native American) using the Metabochip. Replicated 31/39 fasting glucose and 14/17 fasting insulin loci from European GWAS. Identified two novel secondary signals at G6PC2-rs477224 and GCK-rs2908290, a population-specific signal at G6PC2-rs77719485 in African ancestry, and one novel locus at SLC17A2-rs75862513 for fasting insulin.
▶Association of glycosylated hemoglobin with the gene encoding CDKAL1 in the Korean Association Resource (KARE) studyMeta-analysisN=159,940Jihye Ryu et al.(2012)· Human Mutation
Transethnic genome-wide meta-analysis in 159,940 individuals identified 60 common genetic variants associated with HbA1c levels. Variants were classified as glycemic (19), erythrocytic (22), or unclassified (19) based on their biological mechanisms. Glycemic variants were associated with higher type 2 diabetes risk (OR=1.05 per allele, p=3×10⁻²⁹), while erythrocytic variants were not. The X-linked G6PD G202A variant showed a large effect in African Americans (0.81% HbA1c reduction per allele) but minimal effects in other ancestries, potentially causing 2% of African American T2D cases to remain undiagnosed when using HbA1c screening.
▶No association between the type 2 diabetes mellitus susceptibility gene, SLC30A8 and schizophrenia in a Chinese populationAssociationN=1,946Xuan Zhang et al.(2012)· Human Psychopharmacology: Clinical and Experimental
A case-control study of 837 schizophrenic patients and 1,109 controls in a Han Chinese population found no significant association between the SLC30A8 rs13266634 (R325W, C/T) polymorphism and schizophrenia risk (χ² = 1.95, p = 0.38 for genotype; χ² = 0.47, p = 0.50 for allele frequencies), nor with any schizophrenia clinical symptoms. This null finding suggests that despite rs13266634 being a robust type 2 diabetes risk variant across multiple GWAS, it does not contribute to the genetic basis of the schizophrenia-T2DM comorbidity.
About SLC30A8
The protein encoded by this gene is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. This gene is expressed at a high level only in the pancreas, particularly in islets of Langerhans. The encoded protein colocalizes with insulin in the secretory pathway granules of the insulin-secreting INS-1 cells. Allelic variants of this gene exist that confer susceptibility to diabetes mellitus, noninsulin-dependent (NIDDM). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
View all SLC30A8 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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