The GLO1 C332 (Ala111) allele confers autism vulnerability: Family-based genetic association and functional correlates

Stefano Gabriele, Federica Lombardi, Roberto Sacco, Valerio Napolioni, Laura Altieri, Maria Cristina Tirindelli, Chiara Gregorj, Carmela Bravaccio, Francis Rousseau, Antonio M. Persico

Research output: Contribution to journalArticlepeer-review

Abstract

Glyoxalase I (GLO1) is a homodimeric Zn2+-dependent isomerase involved in the detoxification of methylglyoxal and in limiting the formation of advanced glycation end-products (AGE). We previously found the rs4746 A332 (Glu111) allele of the GLO1 gene, which encodes for glyoxalase I, associated with "unaffected sibling" status in families with one or more children affected by Autism Spectrum Disorder (ASD). To identify and characterize this protective allele, we sequenced GLO1 exons and exon-intron junctions, detecting two additional SNPs (rs1049346, rs1130534) in linkage disequilibrium with rs4746. A family-based association study involving 385 simplex and 20 multiplex Italian families yielded a significant association with autism driven only by the rs4746 C332 (Ala111) allele itself (P

Original languageEnglish
Pages (from-to)108-116
Number of pages9
JournalJournal of Psychiatric Research
Volume59
DOIs
Publication statusPublished - Dec 1 2014

Keywords

  • Advanced glycation end-products
  • Autism
  • Autism spectrum disorder
  • Glyoxalase
  • Methylglyoxal
  • Pervasive developmental disorders

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Biological Psychiatry
  • Arts and Humanities (miscellaneous)
  • Medicine(all)

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