rs4737009

This is a regulatory region variant variant in the ANK1 gene.

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GWAS Catalog Trait Associations (5)

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

HbA1c measurement

Chen J et al. “The trans-ancestral genomic architecture of glycemic traits.” Nature Genetics 53(6):840-860 (2021)

Allele A

OR —

β 0.023

p 8.0e-56

N 146,806

Large GWAS

European

Kim YJ et al. “The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.” Nature Communications 13(1):6642 (2022)

Allele A

OR 0.07

p 4.0e-29

N 288,127

Large GWAS

East Asian

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 A

OR 0.02

p 4.0e-27

N 88,355

Meta-analysisLarge GWAS

European

Soranzo N et al. “Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.” Diabetes 59(12):3229-39 (2010)

Allele A

OR 0.03

p 6.0e-12

N 46,368

Large GWAS

European

Chen P et al. “Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.” Diabetes 63(7):2551-62 (2014)

Allele A

OR 0.08

p 1.0e-15

N 19,017

Large GWAS

multi-ancestry

mean corpuscular hemoglobin concentration

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele G

OR 0.04

p 7.0e-27

N 153,950

Large GWAS

East Asian

Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)

Allele G

OR 0.03

p 1.0e-13

N 126,151

Large GWAS

East Asian

neutrophil percentage of leukocytes

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.02

p 3.0e-22

N 394,642

Large GWAS

European

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele A

OR 0.02

p 1.0e-21

N 408,112

Large GWAS

European

lymphocyte percentage of leukocytes

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele A

OR 0.02

p 2.0e-21

N 408,112

Large GWAS

European

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)

Allele A

OR 0.03

p 1.0e-10

N 171,748

Large GWAS

European

erythrocyte volume

Allele G

OR 0.03

p 3.0e-14

N 153,950

Large GWAS

East Asian

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele G

OR 0.02

p 1.0e-10

N 129,832

Large GWAS

East Asian

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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 ANK1

Ankyrins are a family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton and play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for various target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. Ankyrin 1, the prototype of this family, was first discovered in the erythrocytes, but since has also been found in brain and muscles. Mutations in erythrocytic ankyrin 1 have been associated in approximately half of all patients with hereditary spherocytosis. Complex patterns of alternative splicing in the regulatory domain, giving rise to different isoforms of ankyrin 1 have been described. Truncated muscle-specific isoforms of ankyrin 1 resulting from usage of an alternate promoter have also been identified. [provided by RefSeq, Dec 2008]

rs4737009

GWAS Catalog Trait Associations (5)

HbA1c measurement

mean corpuscular hemoglobin concentration

neutrophil percentage of leukocytes

lymphocyte percentage of leukocytes

erythrocyte volume

Research that mentions this SNP (1)

About ANK1

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