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

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（SNP）进行基因分型，并通过广义多因素降维法（GMDR）评估SNP与生活方式（吸烟、饮酒、饮茶、盐摄入）的交互作用。结果 与正常血压对照比较，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，高血压发病可能与肥胖、血脂异常等因素相关，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 (SNP) were genotyped by SNaPshot 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±4.18]vs [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 obesity and dyslipidemia, while not associated with STK39 gene.

关键词

丝氨酸苏氨酸激酶39 / 高血压 / 蒙古族 / 基因-环境交互作用 / 饮茶

Key words

serine threonine kinase 39 / hypertension / Mongolian / gene-environment interaction / tea consumption

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基金资助

内蒙古自然科学基金(2024QN08076)

内蒙古人民医院公立医院科研联合基金(2023GLLH0058)