蒙古族人群中丝氨酸苏氨酸激酶39（STK39）基因多态性与环境因素交互作用对原发性高血压的影响

Gene-environment interactions between serine threonine kinase 39 (STK39) polymorphisms and environmental factors on essential hypertension of Mongolians

    摘要
  • 摘要:
    目的 探讨丝氨酸苏氨酸激酶39（STK39）基因变异（rs35929607、rs3754777、rs6749447、rs4977950）与原发性高血压的关联，以及这些基因变异与环境因素在内蒙古人群中的交互作用。
    方法 本研究为人群病例对照研究，在2019—2020年纳入219例蒙古族高血压患者和161名正常血压对照者。对4个STK39单核苷酸多态性（SNPs）进行基因分型，并通过广义多因素降维法（GMDR）评估SNPs与生活方式（吸烟、饮酒、饮茶、盐摄入）的交互作用。
    结果  高血压患者表现出更高的体重指数（26.45±4.18）比（23.62±3.49）kg/m2，t = 6.968，P＜0.001、高尿酸血症（19.2%比10.6%，χ2 = 5.256，P = 0.022）、甘油三酯1.57（1.18, 2.06） 比1.14（0.86, 1.65）mmol/L，Z = 5.210，P＜0.001以及饮茶比例（64.4%比54.0%，χ2 = 4.139，P = 0.045）。未发现STK39基因多态性与高血压之间存在统计学关联（均P＞0.05）。在交互作用分析中，GMDR模型初筛提示STK39多态性与饮茶可能存在交互信号，但经logistic回归验证，在校正混杂因素后，未发现STK39多态性与饮茶行为的交互作用具有统计学意义。
    结论 在蒙古族人群中，高血压发病与肥胖、高盐饮食、血脂异常等代谢及环境因素相关，而与STK39基因多态性的相关性无统计学意义。

     

    Abstract:
    Objective To examine the association between serine threonine kinase 39 (STK39) variants (rs35929607, rs3754777, rs6749447, rs4977950) and hypertension as well as their interactions with environmental factors in Mongolians.
    Methods A population-based case-control study was conducted from 2019 to 2020, enrolling 219 hypertensive and 161 normotensive Mongolian adults. Four STK39 tagging single nucleotide polymorphism (SNPs) were genotyped by TaqMan assay; gene–lifestyle (smoking, alcohol, tea, dietary salt) interactions were analysed with generalized multifactor dimensionality reduction (GMDR).
    Results  Compared with normotensive individuals, patients with hypertension exhibited a significantly higher body mass index (BMI) (26.45±4.18vs 23.62±3.49 kg/m2, t = 6.968, P＜0.001), higher prevalence of hyperuricemia (19.2% vs 10.6%, χ2 = 5.256, P = 0.022), elevated triglyceride levels (1.57 1.18, 2.06 vs 1.14 0.86, 1.65 mmol/L, Z = 5.210, P＜0.001, and higher rate of tea consumption (64.4% vs 54.0%, χ2 = 4.139, P = 0.045). No statistically significant association was found between STK39 polymorphisms and hypertension (all P＞0.05). In interaction analyses, the GMDR model suggested a potential interaction signal between STK39 polymorphisms and tea consumption. However, logistic regression validation revealed no statistically significant interaction between STK39 polymorphisms and tea-drinking behavior after adjustment for confounders.
    Conclusion Among the Mongolian population, hypertension onset is more prominently associated with metabolic and environmental factors such as obesity, high-salt diet, and dyslipidemia, while not associated with STK39 gene.

     

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