title: Mitochondrial DNA HV lineage increases the susceptibility to schizophrenia among Israeli Arabs.
abstract: 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.
authors.affiliation: Stanley Research Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beersheva, Israel.
authors.forename: Shirly
authors.initials: S
authors.lastname: Amar
authors.forename: Alon
authors.initials: A
authors.lastname: Shamir
authors.forename: Ofer
authors.initials: O
authors.lastname: Ovadia
authors.forename: Monica
authors.initials: M
authors.lastname: Blanaru
authors.forename: Alon
authors.initials: A
authors.lastname: Reshef
authors.forename: Ilana
authors.initials: I
authors.lastname: Kremer
authors.forename: Marcella
authors.initials: M
authors.lastname: Rietschel
authors.forename: Thomas G
authors.initials: TG
authors.lastname: Schulze
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Maier
authors.forename: R H
authors.initials: RH
authors.lastname: Belmaker
authors.forename: Richard P
authors.initials: RP
authors.lastname: Ebstein
authors.forename: Galila
authors.initials: G
authors.lastname: Agam
authors.forename: Dan
authors.initials: D
authors.lastname: Mishmar
mesh_terms: D018912:Arabs / Q000235:genetics* / Q000523:psychology*; D002845:Chromatography; D015331:Cohort Studies; D022801:Complementarity Determining Regions / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D004272:DNA, Mitochondrial / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007557:Israel; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors; D012559:Schizophrenia / Q000208:ethnology* / Q000235:genetics*
chemical_list: D022801:Complementarity Determining Regions; D017931:DNA Primers; D004272:DNA, Mitochondrial