rs4746

This is a variant in the GLO1 gene that changes a glutamate to an alanine.

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GWAS Catalog Trait Associations (1)

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

lactoylglutathione lyase measurement

Kalnapenkis A et al. “Genetic determinants of plasma protein levels in the Estonian population.” Scientific Reports 14(1):7694 (2024)

Allele G

OR 0.43

p 2.0e-12

N 497

Small GWAS

European

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ClinVar annotation

Uncertain Significance

1 submitter3 publications

Autism, susceptibility to, 1

View on ClinVar →

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Research that mentions this SNP (1)

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Glyoxalase I polymorphism rs2736654 causing the Ala111Glu substitution modulates enzyme activity—implications for autism

FunctionalMadhabi Barua et al.(2011)· Autism Research

A functional study demonstrating that rs2736654 (Ala111Glu) in the GLO1 gene reduces glyoxalase I enzyme activity by 20.5% (P<0.03) and increases methylglyoxal accumulation by 57% in lymphoblastoid cell lines and neural progenitor cells. The Glu111 variant shows hyperphosphorylation and elevated RAGE expression, with methylglyoxal causing concentration-dependent inhibition of neuronal development, suggesting a mechanistic link between this SNP and autism susceptibility through impaired detoxification of toxic metabolites.

Traits studied:Autism Spectrum DisorderAutism susceptibility

PubMed DOI Metascience Observatory

About GLO1

The enzyme encoded by this gene is responsible for the catalysis and formation of S-lactoyl-glutathione from methylglyoxal condensation and reduced glutatione. Glyoxalase I is linked to HLA and is localized to 6p21.3-p21.1, between HLA and the centromere. [provided by RefSeq, Jul 2008]