Mitochondrial DNA HV lineage increases the susceptibility to schizophrenia among Israeli Arabs

Shirly Amar, Alon Shamir, Ofer Ovadia, Monica Blanaru, Alon Reshef, Ilana Kremer, Marcella Rietschel, Thomas G. Schulze, Wolfgang Maier, R. H. Belmaker, Richard P. Ebstein, Galila Agam, Dan Mishmar

Research output: Contribution to journalArticlepeer-review

36 Scopus citations


Haplotypes and haplogroups are linked sets of common DNA variants, acting as susceptibility or protective factors to complex disorders. Growing evidence suggests that dysfunction of mitochondrial bioenergetics contributes to the schizophrenia phenotype. We studied mitochondrial DNA haplogroups in schizophrenia patients. Since mitochondria are inherited from the mothers, we used healthy fathers as an ideal case-control group. Analysis of the distribution of mitochondrial haplogroups in schizophrenia patients compared to their healthy fathers (202 pairs) resulted in an over-representation of the mtDNA lineage cluster, HV, in the patients (p = 0.01), with increased relative risk (odds ratio) of 1.8. Since mitochondrial DNA is small relative to nuclear DNA, a total mitochondrial genome analysis was possible in a hypothesis-free manner. However, mitochondrial DNA haplogroups are highly variable in human population and it will be necessary to replicate our results in other human ethnic groups.

Original languageEnglish
Pages (from-to)354-358
Number of pages5
JournalSchizophrenia Research
Issue number1-3
StatePublished - 1 Aug 2007


  • Association
  • Haplogroup
  • Mitochondria
  • Schizophrenia
  • mtDNA

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Biological Psychiatry


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