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首页> 外文期刊>International journal of legal medicine >Association of common variants in NOS1AP gene with sudden unexplained nocturnal death syndrome in the southern Chinese Han population.
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Association of common variants in NOS1AP gene with sudden unexplained nocturnal death syndrome in the southern Chinese Han population.

机译:南方汉族人口南部常见夜死综合征的常见变体与中国南部夜间死亡综合症。

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摘要

Here, we investigate the association of common polymorphisms of the NOS1AP gene with sudden unexplained nocturnal death syndrome (SUNDS) in the southern Chinese Han population. We genetically screened five common NOS1AP polymorphisms (rs10918594, rs12143842, rs16847548, rs12567209, and rs10494366) previously reported to be associated with QT interval variation and sudden cardiac death (SCD) in 123 sporadic SUNDS cases and 166 healthy controls using polymerase chain reaction (PCR) and direct DNA sequencing. In the present study, the A allele of rs12567209 was more common in controls than in SUNDS cases, which was associated with 0.656-fold decreased risk of SUNDS (95% confidence interval 0.431 to 0.998, P?=?0.048) compared with G allele. Under the dominant genetic model, GA + AA genotype of rs12567209 was also more common in controls than in SUNDS cases, which was associated with 0.604-fold decreased risk of SUNDS (95 % confidence interval 0.368 to 0.991, P?=?0.045) compared with GG genotype. No significant associations of rs10918594, rs12143842, rs16847548, and rs10494366 with SUNDS were observed (P?>?0.05). In haplotype analyses, the distribution of haplotype GCTA was significantly overrepresented in controls compared to SUNDS cases (P?=?0.040). This is the first report of the association of common NOS1AP polymorphisms with SUNDS in the southern Chinese Han population. These findings suggest that the A allele of rs12567209 and haplotype GCTA may serve as a protective modifier.
机译:在这里,我们研究了南方汉族人群突然未解释的夜间死亡综合征(Sunds)的常见多态性的常见组多态性。我们先前综合筛选了五种常见的NOS1AP多态性(RS10918594,RS12143842,RS12567209,RS12567209,RS10494366),以与123次散发案例和使用聚合酶链反应的166例健康对照组(PCR)与QT间隔变异和突然心脏死亡(SCD)相关联(PCR )和直接DNA测序。在目前的研究中,对照组比在Sunds病例中更常见,与S Sunds病例有关,与G等位基因相比,SUNDS病例与0.656倍以下的风险减少(95%置信区间0.431至0.998)相关联。在主导遗传模型下,RS12567209的GA + AA基因型在对照中也比SONDS病例更常见,与0.604倍下降相关的阳光下降相关(95%置信区间0.368至0.991,P?= 0.045)比较用gg基因型。没有观察到RS10918594,RS12143842,RS12143842,RS10494366的显着关联,并进行了SUNDS(P?>?0.05)。在单倍型分析中,与SunDS病例相比,对照组的单倍型GCTA的分布显着超过了对照(P?= 0.040)。这是南方汉族人口南部森林普通NOS1P多态性协会的第一份报告。这些发现表明,RS12567209和单倍型GCTA的等位基因可以用作保护改性剂。

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