Introduction The role of neuraminidases in cardiovascular disease has recently gained increasing attention. However, the association between neuraminidase gene polymorphisms and heart failure (HF) has not yet been investigated. Methods and Results Genotyping of nine single nucleotide polymorphisms (SNPs) in the NEU2/NEU3/NEU4 genes was performed in 610 HF patients and 600 healthy controls from the Southwest Han Chinese population using TaqMan SNP Genotyping Assay. Individuals carrying the A allele of rs11545301 had decreased risk of HF (additive model: OR=0.704, 95% CI=0.511–0.97; P = 0.032). While the C allele of rs2293763 increased the risk of HF in recessive model (OR=1.486, 95% CI=1.095–2.012; P = 0.011). Rs2233384, rs2233394 and rs2293763 were significantly associated with the mortality risk of HF in dominant model, both with and without adjustment for conventional risk factors (HR= 0.686, 95% CI= 0.52-0.906, P = 0.008 for rs2233384; HR= 1.357, 95% CI= 1.035-1.78, P = 0.027 for rs2233384 and HR= 0.76, 95% CI= 0.592-0.975; P = 0.031 for rs2293763). Conclusion Our findings demonstrated the association between a series of variants in NEU2/NEU4 genes and the risk or prognosis of HF in Han Chinese Population. These data suggested an important role of NEU2 and NEU4 in the pathogenesis of HF.


中文翻译：

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神经氨酸酶基因的常见变异有助于慢性心力衰竭的易感性和进展

引言 神经氨酸酶在心血管疾病中的作用最近受到越来越多的关注。然而，尚未研究神经氨酸酶基因多态性与心力衰竭（HF）之间的关联。方法和结果 使用 TaqMan SNP 基因分型测定法对来自西南汉族人群的 610 名 HF 患者和 600 名健康对照进行 NEU2/NEU3/NEU4 基因中的 9 个单核苷酸多态性 (SNP) 的基因分型。携带 rs11545301 的 A 等位基因的个体患 HF 的风险降低（加法模型：OR=0.704, 95% CI=0.511-0.97；P = 0.032）。而 rs2293763 的 C 等位基因在隐性模型中增加了 HF 的风险（OR=1.486, 95% CI=1.095-2.012; P = 0.011）。Rs2233384、rs2233394 和 rs2293763 与显性模型中 HF 的死亡风险显着相关，调整和不调整常规风险因素（HR= 0.686, 95% CI= 0.52-0.906, P = 0.008 for rs2233384; HR= 1.357, 95% CI= 1.035-1.78, P = 0.027 for rs2233384 and HR= 0.76, 95% CI = 0.592-0.975；对于 rs2293763，P = 0.031）。结论 我们的研究结果证明了 NEU2/NEU4 基因的一系列变异与汉族人群心衰风险或预后之间的关联。这些数据表明 NEU2 和 NEU4 在 HF 发病机制中的重要作用。