rs857691

This variant is located in the SPTA1 gene.

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GWAS Catalog Trait Associations (1)

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

HbA1c measurement

Wheeler E et al. “Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.” Plos Medicine 14(9):e1002383 (2017)

Allele T

OR 0.02

p 4.0e-25

N 88,355

Meta-analysisLarge GWAS

European

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ClinVar annotation

Benign★★★☆

9 submitters2 publications

not specified; Hereditary spherocytosis type 3; Elliptocytosis 2; Pyropoikilocytosis, hereditary; not provided

View on ClinVar →

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Research that mentions this SNP (1)

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Association of glycosylated hemoglobin with the gene encoding CDKAL1 in the Korean Association Resource (KARE) study

Meta-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.

Traits studied:2-hour glucoseErythrocytic traitsFasting glucoseGlycemic traitsHemoglobin A1c (HbA1c)Type 2 diabetes

PubMed DOI Metascience Observatory

About SPTA1

This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3. [provided by RefSeq, Aug 2017]