No evidence that major mtDNA European haplogroups confer risk to schizophrenia

作者：Mosquera Miguel Ana; Torrell Helena; Abasolo Nerea; Arrojo Manuel; Paz Eduardo; Ramos Rios Ramon; Agra Santiago; Paramo Mario; Brenlla Julio; Martinez Silvia; Vilella Elisabet; Valero Joaquin; Gutierrez Zotes Alfonso; Martorell Lourdes; Costas Javier; Salas Antonio^*

来源：American Journal of Medical Genetics Part B-Neuropsychiatric Genetics, 2012, 159B(4): 414-421.

DOI：10.1002/ajmg.b.32044

• mitochondrial DNA
• SNPs
• association studies
• population stratification
• false positive

Previous studies suggest that genetic factors could be involved in mitochondrial dysfunction observed in schizophrenia (SZ), some of them claiming a role of mtDNA common variants (mtSNPs) and/or haplogroups (hgs) in developing this disorder. These studies, however, have mainly been undertaken on relatively small cohorts of patients and control individuals and most have not yet been replicated. To further analyze the role of mtSNPs in SZ risk, we have carried out the largest genotyping effort to date using two Spanish casecontrol samples comprising a total of 942 schizophrenic patients and 1,231 unrelated controls: 454 patients and 616 controls from Santiago de Compostela (Galicia) and 488 patients and 615 controls from Reus (Catalonia). A set of 25 mtSNPs representing main branches of the European mtDNA phylogeny were genotyped in the Galician cohort and a subset of 16 out of these 25 mtSNPs was genotyped in the Catalan cohort. These 16 common variants characterize the most common European branches of the mtDNA phylogeny. We did not observe any positive association of mtSNPs and hgs with SZ. We discuss several deficiencies of previous studies that might explain the false positive nature of previous findings, including the confounding effect of population sub-structure and deficient statistical methodologies. It is unlikely that mtSNPs defining the most common European mtDNA haplogroups are related to SZ.

• 出版日期2012-6