NDUFV2 基因常见启动子变异与汉族人群精神分裂症易感性无关。
Common promoter variants of the NDUFV2 gene do not confer susceptibility to schizophrenia in Han Chinese.
机构信息
Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, China.
出版信息
Behav Brain Funct. 2010 Dec 29;6:75. doi: 10.1186/1744-9081-6-75.
BACKGROUND
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.
METHODS
We 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.
RESULTS
Allele, 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.
CONCLUSION
The 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.
背景
NADH-泛醌氧化还原酶黄素蛋白基因（NDUFV2）编码一个 24kD 的线粒体复合物 I 亚基，已在不同人群中被报道与精神分裂症和双相情感障碍呈正相关。
方法
我们通过直接测序，对 529 例无关汉族精神分裂症患者和 505 例匹配对照者的该基因启动子变异（rs6506640 和 rs1156044）进行基因分型。采用 Fisher 确切检验评估这两个已报道的单核苷酸多态性（SNP）是否在中国汉族人群中导致精神分裂症易感性。
结果
病例组和对照组之间的等位基因、基因型和单倍型比较均无统计学意义，提示 NDUFV2 基因启动子变异与汉族人群精神分裂症无关。
结论
NDUFV2 在精神分裂症中的作用需要进一步研究。不同的种族背景和/或人群亚结构可能导致研究结果不一致。
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