title: Mitochondrial haplogroups and hypervariable region polymorphisms in schizophrenia: a case-control study.
abstract: Previous studies have detected associations between mitochondrial haplogroups and schizophrenia (SZ). However, no study has examined the relationship between major mitochondrial DNA (mtDNA) haplogroups and SZ in the Chinese population. The aim of this study was to assess the association between mtDNA haplogroups and SZ genesis in the Chinese Han population. We used a case-control study and sequenced the mtDNA hypervariable regions (HVR1, HVR2, and HVR3) in the Han population. We analyzed mtDNA haplogroups and HVR polymorphisms in 298 SZ patients and 298 controls. The haplotypes were classified into 10 major haplogroups: A, B, CZ, D, F, G, M, N, N9a, and R. Statistical analysis revealed that only N9a showed a nominally significant association with protection from SZ [1.68% vs. 6.38%, p=0.004, OR=0.251 (0.092-0.680); after adjustment for age and sex: p=0.006, OR=0.246 (0.090-0.669)]. Three HVR polymorphisms were found to be nominally significantly different between subjects with SZ and controls, and all except one (m.204T>C) are linked to the N9a haplogroup. Our results indicate that mtDNA haplogroup N9a might be a protective factor for SZ.
authors: Center for DNA Typing, the Fourth Military Medical University, Xi'an 710032, China; Department of Biochemistry and Molecular Biology, the Fourth Military Medical University, Xi'an 710032, China.
authors: Guo-xia
authors: GX
authors: Wang
authors: Yong
authors: Y
authors: Zhang
authors: Yun-tao
authors: YT
authors: Zhang
authors: Yu-shu
authors: YS
authors: Dong
authors: Zhuang-wei
authors: ZW
authors: Lv
authors: Mao
authors: M
authors: Sun
authors: Dan
authors: D
authors: Wu
authors: Yuan-ming
authors: YM
authors: Wu
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D055106:Genome-Wide Association Study; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics*; D012559:Schizophrenia / Q000235:genetics*; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial
keywords: Haplogroup; Polymorphisms; Schizophrenia; mtDNA