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首页> 外文期刊>Annals of Human Genetics >The Association between the Polymorphisms in a Sodium Channel Gene SCN7A and Essential Hypertension: A Case-Control Study in the Northern Han Chinese
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The Association between the Polymorphisms in a Sodium Channel Gene SCN7A and Essential Hypertension: A Case-Control Study in the Northern Han Chinese

机译:钠通道基因SCN7A的多态性与原发性高血压的关联:北方汉族人的病例对照研究。

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Na-x, an -subunit of the sodium channel encoded by the SCN7A gene, has been deemed to be a sensor of the concentration of sodium in the brain and may be involved in salt intake behavior. We inferred that Na-x/SCN7A may participate in the regulation of blood pressure and the pathogenesis of essential hypertension (EH). The present case-control study involving 615 hypertensives and 617 normotensives was performed to investigate the association between SCN7A polymorphisms and EH in the Northern Han Chinese population. The three common single nucleotide polymorphisms (SNPs) (rs3791251, rs6738031, rs7565062) in the exons of SCN7A were genotyped with the TaqMan assay. Significant association between SNP rs7565062 and EH was found under the addictive and dominant genetic models (P = 0.024, OR = 1.283, 95%CI [1.033-1.592]; P = 0.013, OR = 1.203, 95%CI [1.040-1.392]; respectively). The three SNPs were in close pair-wise linkage disequilibrium with each other and the haplotype analyses indicated that haplotype G-A-T was significantly associated with increased risk of EH (P = 0.023, OR = 1.290). In conclusion, our data showed that SNP rs7565062 of SCN7A was significantly associated with EH and the allele T of rs7565062 or the related haplotype G-A-T will be a genetic risk factor for EH in the Northern Han Chinese population.
机译:Na-x是由SCN7A基因编码的钠通道的一个亚基,被认为是大脑中钠浓度的传感器,可能与盐的摄入行为有关。我们推断,Na-x / SCN7A可能参与血压的调节和原发性高血压(EH)的发病机理。本病例对照研究涉及615个高血压和617个正常血压,以研究SCN7A多态性与北方汉族人群EH之间的关联。使用TaqMan分析对SCN7A外显子中的三个常见单核苷酸多态性(SNP)(rs3791251,rs6738031,rs7565062)进行基因分型。在成瘾和显性遗传模型下,SNP rs7565062和EH之间存在显着关联(P = 0.024,OR = 1.283,95%CI [1.033-1.592]; P = 0.013,OR = 1.203,95%CI [1.040-1.392] ; 分别)。这三个SNP彼此成对紧密连锁不平衡,单倍型分析表明,单倍型G-A-T与EH风险增加显着相关(P = 0.023,OR = 1.290)。总之,我们的数据表明,SCN7A的SNP rs7565062与EH显着相关,而rs7565062的等位基因T或相关的单倍型G-A-T将成为中国北方汉族人群EH的遗传危险因素。

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