Association of a new polymorphism in ALOX12 gene with bipolar disorder

Eur Arch Psychiatry Clin Neurosci. 2003 Feb;253(1):40-3. doi: 10.1007/s00406-003-0404-y.

Abstract

Bipolar disorder (BPD) is characterised by episodes of excitement interspersed with periods of depression. The role of genetic factors in BPD is indicated by studies in monozygotic twins showing 40-70 % of concordance. Studies using genetic markers showed linkage of genes for affective disorders in different chromosome regions, emphasising the polygenic and multifactorial traits. The main goal of our research is to search non-synonymous SNPs (those that result in modifications in protein sequence) in genes that can be associated with psychiatric diseases as suggested by genomic mapping and/or by physiological function of the protein. Using DNA sequencing we could confirm a new non-synonymous SNP in the conservative domain of the ALOX12 gene (17p13.1), suggested by EST alignment. This SNP is an alteration from G to A that leads to a change of an arginine (A) to a glutamine in one of the most important domains of the protein. This SNP was evaluated by DNA sequencing in 182 patients with BPD and 160 control individuals. An increased presence of allele A among patients (60 % in controls and 73.1 % in cases; chi(2) = 6.581, P = 0.010; OR = 1.8095, 95 % CI = 1.1477-2.853) was found, suggesting an association of this polymorphism with the BPD in this Brazilian sample.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Amino Acid Sequence
  • Arachidonate 12-Lipoxygenase / genetics*
  • Bipolar Disorder / genetics*
  • Bipolar Disorder / therapy
  • Brazil
  • Case-Control Studies
  • Chromosomes, Human, Pair 17 / genetics
  • Female
  • Humans
  • Lithium / pharmacology
  • Lithium / therapeutic use
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Polymorphism, Single Nucleotide*

Substances

  • Lithium
  • Arachidonate 12-Lipoxygenase
  • ALOX12 protein, human