rs2233580

This is a variant in the PAX4 gene that changes a arginine to an histidine.

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GWAS Catalog Trait Associations (8)

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

type 2 diabetes mellitus

Suzuki K et al. “Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.” Nature 627(8003):347-357 (2024)
Allele T
OR —
p 1.0e-179
N 2,535,601
Large GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.34
p 6.0e-105
N 667,504
Large GWAS
multi-ancestry
Mahajan A et al. “Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.” Nature Genetics 50(4):559-571 (2018)
Allele T
OR 1.36
p 2.0e-12
N 452,244
Large GWAS
multi-ancestry
Spracklen CN et al. “Identification of type 2 diabetes loci in 433,540 East Asian individuals.” Nature 582(7811):240-245 (2020)
Allele T
OR 1.34
p 3.0e-132
N 433,540
Large GWAS
East Asian
Vujkovic M et al. “Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.” Nature Genetics 52(7):680-691 (2020)
Allele T
OR 0.28
p 1.0e-74
N 216,287
Meta-analysisLarge GWAS
East Asian, South Asian
Ishigaki K et al. “Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.” Nature Genetics 52(7):669-679 (2020)
Allele T
OR 1.33
p 6.0e-90
N 210,865
Large GWAS
East Asian
Suzuki K et al. “Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.” Nature Genetics 51(3):379-386 (2019)
Allele T
OR 1.32
p 4.0e-74
N 191,764
Large GWAS
East Asian
Cho SB et al. “Exome Chip Analysis of 14,026 Koreans Reveals Known and Newly Discovered Genetic Loci Associated with Type 2 Diabetes Mellitus.” Diabetes & Metabolism Journal 45(2):231-240 (2021)
Allele T
OR 1.48
p 2.0e-10
N 14,026
Large GWAS
East Asian

Drugs used in diabetes use measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.29
p 1.0e-66
N 178,726
Large GWAS
East Asian

glucose tolerance test

Gu Y et al. “Genetic architecture and risk prediction of gestational diabetes mellitus in Chinese pregnancies.” Nature Communications 16(1):4178 (2025)
Allele T
OR 0.13
p 4.0e-21
N 84,743
Large GWAS
East Asian

hemoglobin A1 measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.07
p 4.0e-21
N 415,403
Large GWAS
multi-ancestry

HbA1c measurement

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 T
OR 0.10
p 9.0e-17
N 288,127
Large GWAS
East Asian

diabetes mellitus

Walters RG et al. “Genotyping and population characteristics of the China Kadoorie Biobank.” Cell Genomics 3(8):100361 (2023)
Allele T
OR 1.46
p 1.0e-15
N 77,194
Large GWAS
East Asian

triglyceride measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.04
p 1.0e-8
N 111,667
Large GWAS
East Asian
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ClinVar annotation

Likely Benign★★★☆
6 submitters2 publications

Maturity onset diabetes mellitus in young (MODY); Monogenic diabetes; not specified

View on ClinVar →

About PAX4

This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The paired box 4 gene is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. [provided by RefSeq, Jul 2008]

View all PAX4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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