Amar Shirly, Shamir Alon, Ovadia Ofer, Blanaru Monica, Reshef Alon, Kremer Ilana, Rietschel Marcella, Schulze Thomas G, Maier Wolfgang, Belmaker R H, Ebstein Richard P, Agam Galila, Mishmar Dan
Stanley Research Center, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beersheva, Israel.
Schizophr Res. 2007 Aug;94(1-3):354-8. doi: 10.1016/j.schres.2007.04.020. Epub 2007 Jun 12.
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.
单倍型和单倍群是常见DNA变异的连锁集合，作为复杂疾病的易感性或保护因素。越来越多的证据表明，线粒体生物能量学功能障碍与精神分裂症表型有关。我们研究了精神分裂症患者的线粒体DNA单倍群。由于线粒体是从母亲那里遗传而来的，我们将健康父亲作为理想的病例对照组。对精神分裂症患者与其健康父亲（202对）的线粒体单倍群分布进行分析，结果显示患者中mtDNA谱系簇HV的比例过高（p=0.01），相对风险增加（优势比）为1.8。由于线粒体DNA相对于核DNA较小，因此可以以无假设的方式进行全线粒体基因组分析。然而，线粒体DNA单倍群在人类群体中高度可变，有必要在其他人类种族中重复我们的研究结果。
