Li Shiyang, Wang Yuehong, Zeng Xiaobing, Zhang Yanyu, Wang Shihai, Liu Yuyong, Xu Dawen, Lan Jianjun, Hu Dong
Hum Hered. 2022 Jun 28. doi: 10.1159/000525713.
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.
引言 神经氨酸酶在心血管疾病中的作用近来日益受到关注。然而,神经氨酸酶基因多态性与心力衰竭(HF)之间的关联尚未得到研究。
方法与结果 使用TaqMan SNP基因分型检测法,对来自中国西南汉族人群的610例HF患者和600例健康对照者进行了NEU2/NEU3/NEU4基因中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(相加模型: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患HF的风险(OR = 1.486,95%CI = 1.095 - 2.012;P = 0.011)。在显性模型中,无论是否对传统风险因素进行校正,rs2233384、rs2233394和rs2293763均与HF的死亡风险显著相关(rs2233384的HR = 0.686,95%CI = 0.52 - 0.906,P = 0.008;rs2233394的HR = 1.357,95%CI = 1.035 - 1.78,P = 0.027;rs2293763的HR = 0.76,95%CI = 0.592 - 0.975;P = 0.031)。
结论 我们的研究结果表明,NEU2/NEU4基因中的一系列变异与中国汉族人群HF的风险或预后相关。这些数据提示NEU2和NEU4在HF发病机制中起重要作用。