Abstract
BackgroundThe NADH-ubiquinone oxidoreductase flavoprotein gene (NDUFV2), which encodes a 24 kD mitochondrial complex I subunit, has been reported to be positively associated with schizophrenia and bipolar disorder in different populations.MethodsWe genotyped the promoter variants of this gene (rs6506640 and rs1156044) by direct sequencing in 529 unrelated Han Chinese schizophrenia patients and 505 matched controls. Fisher's Exact test was performed to assess whether these two reported single nucleotide polymorphisms (SNPs) confer susceptibility to schizophrenia in Chinese.ResultsAllele, genotype and haplotype comparison between the case and control groups showed no statistical significance, suggesting no association between the NDUFV2 gene promoter variants and schizophrenia in Han Chinese.ConclusionThe role of NDUFV2 played in schizophrenia needs to be further studied. Different racial background and/or population substructure might account for the inconsistent results between studies.
Highlights
The NADH-ubiquinone oxidoreductase flavoprotein gene (NDUFV2), which encodes a 24 kD mitochondrial complex I subunit, has been reported to be positively associated with schizophrenia and bipolar disorder in different populations
The first clue that indicated a potential positive association of the NDUFV2 gene with schizophrenia could be traced to the pioneer association and linkage study by Schwab and colleagues [8], in which they reported chromosome 18p, conferred susceptibility to functional psychoses in families with schizophrenia
There was no significant difference in haplotype frequencies (Table 2) between the case and control groups; these results were in contrast to previous finding for positive associations between haplotypes A-G, G-A and G-G with schizophrenia [5]
Summary
Subjects A total of 529 unrelated patients with schizophrenia and 505 matched healthy controls, all of Han Chinese origin, were recruited from Hunan Province in South Central China. The controls were clinically diagnosed as no psychiatric disorders or other diseases and were well matched in geographic origin and ethnicity with the schizophrenia patients. Sequencing results were handled by the DNASTAR program (DNASTAR Inc.) and the original sequencing chromatograms of each sample were further checked by eyes. A few samples were randomly selected and were independently sequenced to evaluate the genotype accuracy, and the results were well matched between different runs. Statistical analysis The allele, genotype and haplotype frequencies of both SNPs were compared between case and control samples by the Fisher’s Exact Probability Test. PHASE2.1.1 program [17] based on the Bayesian method was used to infer haplotype of the two SNPs
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