Clinical, nutritional, anthropometric indicators and frequency of occurrence of Ala16Val (rs4880) polymorphic locus of the MnSOD gene in vibration disease comorbid with arterial hypertension

A. M. Gorbunova, O. Gerasimenko, I. Shpagin, M. S. Medvedkina, V. N. Maksimov, Y. Nikolaev
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Abstract

The continuing interest in the problem of vibration disease (VD), especially when combined with arterial hypertension (AH), is due to the steady development of industrial sectors associated with vibration acceleration and the tendency towards the early development of AH. Aim of the study was to investigate the features of clinical, nutritional and anthropometric indicators and frequency of occurrence of Ala16Val (rs4880) polymorphic locus of the manganese superoxide dismutase (MnSOD) gene in VD combined with AH. Material and methods. 431 people were examined, among them 104 patients with VD stage I, 101 – with VD stage I in combination with AH I–II stage, 107 – with AH I–II stage, without contact with vibration, and 119 people working at the same enterprise without contact with vibration, without signs of hypertension. A complex of clinical, anthropometric, laboratory, functional and genetic studies has been carried out. Results. In case of VD comorbid with AH, the frequency of complaints, both general and specific, significantly increases compared to other groups. Body mass index, waist circumference / hip circumference (WC/HC) ratio, fat mass increase, extracellular fluid content with a decrease in active cell mass, musculoskeletal mass and phase angle compared with the control group. An imbalance of nutrition in terms of macro- and micronutrients, an increased content of the fat component in the diet with a deficiency in the diet of omega-3 polyunsaturated fatty acids has been established. In persons with VD and AH, the C/C genotype, which is more common in healthy people, is registered in only 16% of cases, while the polymorphic variant T/T is in 29 %, which exceeds the corresponding value in the control and isolated AH groups by 1.9 and 1.5 times, respectively. Discussion. The common pathogenetic features of VD and AH lead to the development of adipose tissue dysfunction and trophological insufficiency. There is no doubt that hypertension is associated with increased body weight, obesity, and adipocytokine serum concentration. An indicator of a high risk of developing cardiovascular pathology, including heart attack, stroke, is an increase in the WC/HC index. The role of the Ala16Val polymorphism of the MnSOD gene in the formation of AH and some variants of occupational diseases has been shown in a number of studies. Conclusions. The variant of VD, comorbid with AH, is characterized by a significant increase in the frequency of detection of the T/T genotype in the polymorphic locus Ala16Val (rs4880) of the MnSOD gene in combination with an altered nutritional and anthropometric status of such patients. The presence of this polymorphism may be associated with an increased risk of developing concomitant vascular pathologies in VD, however, in combination with malnutrition and associated changes in anthropometric parameters, this risk increases many times over. Thus, early diagnosis of the risk of developing comorbid vascular pathology in VD can be aimed at identifying the genotype, and prevention can be aimed at modifying nutrition.
振动病合并动脉高血压的临床、营养、人体测量指标以及 MnSOD 基因 Ala16Val (rs4880) 多态位点的出现频率
振动病(VD)问题,尤其是合并动脉高血压(AH)时的振动病问题,一直受到人们的关注,这是因为与振动加速度相关的工业部门的稳步发展以及动脉高血压的早期发展倾向。本研究旨在调查 VD 合并 AH 患者的临床、营养和人体测量指标特征以及锰超氧化物歧化酶(MnSOD)基因 Ala16Val(rs4880)多态位点的出现频率。材料与方法对 431 人进行了检查,其中 104 人为 VD I 期患者,101 人为 VD I 期合并 AH I-II 期患者,107 人为未接触振动的 AH I-II 期患者,119 人为在同一企业工作、未接触振动但无高血压症状的人。对这些人进行了综合的临床、人体测量、实验室、功能和遗传研究。研究结果如下与其他组别相比,合并有 AH 的 VD 患者的主诉频率(包括一般主诉和特殊主诉)明显增加。与对照组相比,体质指数、腰围/臀围比值、脂肪量增加,细胞外液含量增加,活性细胞量减少,肌肉骨骼质量和相位角增加。宏观和微观营养素方面的营养失衡、膳食中脂肪含量的增加以及膳食中欧米茄-3 多不饱和脂肪酸的缺乏已经得到证实。在 VD 和 AH 患者中,C/C 基因型(在健康人中更为常见)仅占 16%,而多态变异 T/T 占 29%,分别比对照组和孤立 AH 组的相应值高出 1.9 倍和 1.5 倍。讨论VD和AH的共同发病特征导致脂肪组织功能障碍和营养不良。毫无疑问,高血压与体重增加、肥胖和脂肪细胞因子血清浓度有关。心血管病变(包括心脏病发作和中风)的高风险指标之一是 WC/HC 指数的增加。多项研究表明,MnSOD 基因的 Ala16Val 多态性在 AH 和某些职业病变体的形成中起着重要作用。结论VD 变异型与 AH 并发,其特点是 MnSOD 基因多态位点 Ala16Val(rs4880)的 T/T 基因型检测频率显著增加,同时这类患者的营养和人体测量状况发生改变。这种多态性的存在可能与 VD 并发血管病变的风险增加有关,但如果与营养不良和相关人体测量参数的变化结合起来,这种风险会增加数倍。因此,对肢体退行性变并发血管病变风险的早期诊断可以以确定基因型为目标,而预防则可以以调整营养为目标。
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