Association of common variants in NOS1AP gene with sudden unexplained nocturnal death syndrome in the southern Chinese Han population
Association of common variants in NOS1AP gene with sudden unexplained nocturnal death syndrome in the southern Chinese Han population
复制标题
NOS1AP基因常见变异与中国南方汉族人群不明原因夜间死亡综合征的关联
DOI：
10.1007/s00414-014-0973-5
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发表时间：
2014-11-01
影响因子：
2.1
通讯作者：
Cheng, Jianding
中科院分区：
文献类型：
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作者：
Huang, Lei;Yu, Yangeng;Cheng, Jianding
在这里，我们调查了中国南方汉族人群中 NOS1AP 基因常见多态性与不明原因夜间死亡综合征 (SUNDS) 的关联。我们使用聚合酶链式反应 (PCR) 和方法，对 123 例散发性 SUNDS 病例和 166 例健康对照中先前报道与 QT 间期变异和心源性猝死 (SCD) 相关的 5 种常见 NOS1AP 多态性（rs10918594、rs12143842、rs16847548、rs12567209 和 rs10494366）进行了基因筛选。直接DNA测序。在本研究中，rs12567209 的 A 等位基因在对照组中比 SUNDS 病例中更常见，与 G 等位基因相比，SUNDS 风险降低 0.656 倍（95% 置信区间 0.431 至 0.998，P = 0.048）。在显性遗传模型下，rs12567209的GA + AA基因型在对照组中也比SUNDS病例中更常见，与GG基因型相比，这与SUNDS风险降低0.604倍相关（95％置信区间为0.368至0.991，P = 0.045）。未观察到 rs10918594、rs12143842、rs16847548 和 rs10494366 与 SUNDS 之间存在显着相关性（P > 0.05）。在单倍型分析中，与 SUNDS 病例相比，对照组中单倍型 GCTA 的分布显着过高 (P = 0.040)。这是中国南方汉族人群中常见 NOS1AP 多态性与 SUNDS 关联的首次报道。这些发现表明 rs12567209 的 A 等位基因和单倍型 GCTA 可能充当保护性修饰剂。
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.