rs4811528

This is a regulatory region variant variant in the TGM2 gene.

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GWAS Catalog Trait Associations (9)

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

free cholesterol to total lipids in large HDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.02
p 2.0e-12
N 450,015
Large GWAS
multi-ancestry

concentration of very large HDL particles measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.01
p 7.0e-12
N 450,015
Large GWAS
multi-ancestry

cholesterol in very large HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.01
p 8.0e-12
N 450,015
Large GWAS
multi-ancestry

cholesteryl ester measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.01
p 2.0e-11
N 450,015
Large GWAS
multi-ancestry

free cholesterol in very large HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.01
p 2.0e-11
N 450,015
Large GWAS
multi-ancestry

total lipids in very large HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.01
p 2.0e-11
N 450,015
Large GWAS
multi-ancestry

myeloid leukocyte count

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 A
OR —
p 1.0e-10
N 746,667
Large GWAS
multi-ancestry

phospholipids in very large HDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.01
p 1.0e-10
N 450,015
Large GWAS
multi-ancestry

leukocyte quantity

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.01
p 3.0e-9
N 504,825
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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The TGM2 gene is associated with schizophrenia in a British population
AssociationN=393Matilda Bradford et al.(2009)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Family-based association study of 131 British trios found the TGM2 gene is associated with schizophrenia. Four individual SNPs showed significant allelic associations: rs2076380 (P=0.019), rs7270785 (P=0.004), rs4811528 (P=0.013), and rs6023526 (P=0.013). The strongest association was observed for the rs7270785-rs4811528 two-SNP haplotype (P=0.001), and the 8-SNP haplotype A-T-A-A-T-G-A-G was excessively transmitted (P=0.0007).

Traits studied:Schizophrenia
PubMedDOIMetascience Observatory

About TGM2

Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene acts as a monomer, is induced by retinoic acid, and appears to be involved in apoptosis. Finally, the encoded protein is the autoantigen implicated in celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all TGM2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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