GLO1
Homo sapiens
Gene Name: glyoxalase I
Aliases: GLYI
Chromosome No: 6
Chromosome Band: 6p21.2
Genetic Category: Genetic Association-Genetic association/rare single gene variant-Rare single gene variant
Aliases: GLYI
Chromosome No: 6
Chromosome Band: 6p21.2
Genetic Category: Genetic Association-Genetic association/rare single gene variant-Rare single gene variant
Summary Statistics:
ASD Reports: 10
Recent Reports: 2
Annotated variants: 7
Associated CNVs: 1
Evidence score: 2
ASD Reports: 10
Recent Reports: 2
Annotated variants: 7
Associated CNVs: 1
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
Genetic association has been found between the GLO1 gene and autism (Junaid et al., 2004; Kovac et al., 2014). However, no genetic association was found between GLO1 and autism in Finnish, Italian and Caucasian-American population cohorts. Separately, genetic association was found between GLO1 and panic disorder without agoraphobia in an Italian population cohort (Politi et al., 2006).
Molecular Function
The encoded protein mediates catalysis and formation of S-lactoyl-glutathione from methylglyoxal and reduced glutathione.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Proteomic studies identified a single nucleotide polymorphism in glyoxalase I as autism susceptibility factor.
ASD
Positive Association
The GLO1 C332 (Ala111) allele confers autism vulnerability: family-based genetic association and functional correlates.
ASD
Positive Association
Weak association of glyoxalase 1 (GLO1) variants with autism spectrum disorder.
ASD
Negative Association
No association between common variants in glyoxalase 1 and autism spectrum disorders.
ASD
Negative Association
Case-control and family-based association studies of candidate genes in autistic disorder and its endophenotypes: TPH2 and GLO1.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Glyoxalase I polymorphism rs2736654 causing the Ala111Glu substitution modulates enzyme activity--implications for autism.
Highly Cited
Glyoxalase I is involved in resistance of human leukemia cells to antitumor agent-induced apoptosis.
Recent Recommendation
Association analysis of the functional Ala111Glu polymorphism of the glyoxalase I gene in panic disorder.
PD
Recent Recommendation
Glyoxalase 1 and glutathione reductase 1 regulate anxiety in mice.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN103R002
frameshift_variant
c.245_264del
p.Pro82HisfsTer12
Familial
Paternal
Simplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN103C002
missense_variant
rs4746
c.332C>A;c.227A>C
p.Ala111Glu
Italian
Discovery
GEN103C003
5_prime_UTR_variant
rs1049346
c.-7C>T
143 ASD cases, 150 healthy controls of Slovenian ethnicity
Discovery
GEN103C004
missense_variant
rs4746
c.332C>A;c.227A>C
p.Ala111Glu
143 ASD cases, 150 healthy controls of Slovenian ethnicity
Replication
GEN103C005
missense_variant
rs4746
c.332A>C;c.227A>C
p.Glu111Ala;p.Glu76Ala
385 simplex and 20 multiplex Italian ASD families
Replication
