BMC Genetics (Sep 2005)

MAOA haplotypes associated with thrombocyte-MAO activity

  • Andersson Björn,
  • Dickman Paul,
  • Sullivan Patrick F,
  • McCarthy Shane,
  • Jansson Mårten,
  • Oreland Lars,
  • Schalling Martin,
  • Pedersen Nancy L

DOI
https://doi.org/10.1186/1471-2156-6-46
Journal volume & issue
Vol. 6, no. 1
p. 46

Abstract

Read online

Abstract Background The aim was to ascertain whether thrombocyte MAO (trbc-MAO) activity and depressed state are genetically associated with the MAO locus on chromosome X (Xp11.3 – 11.4). We performed novel sequencing of the MAO locus and validated genetic variants found in public databases prior to constructing haplotypes of the MAO locus in a Swedish sample (N = 573 individuals). Results Our results reveal a profound SNP desert in the MAOB gene. Both the MAOA and MAOB genes segregate as two distinct LD blocks. We found a significant association between two MAOA gene haplotypes and reduced trbc-MAO activity, but no association with depressed state. Conclusion The MAO locus seems to have an effect on trbc-MAO activity in the study population. The findings suggest incomplete X-chromosome inactivation at this locus. It is plausible that a gene-dosage effect can provide some insight into the greater prevalence of depressed state in females than males.