跨贝加尔湖地区动脉高血压患者和健康人群中SCNN1A基因rs11064153变异的研究

Q4 Medicine
Z. A. Pokoeva, B. Pushkarev, O. Bolshakova, N. A. Ilyamakova, Y. Vitkovsky
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引用次数: 1

摘要

本研究的目的是评估跨贝加尔湖地区的高血压患者和相对健康人群中SCNN1A钠通道基因rs11064153变异与高血压(AH)的推定关联。设计和方法。本研究包括106例确诊为AH的患者。所有参与者在签署知情同意书后被纳入研究。对照组由98名实际健康的人组成。两组在年龄上具有可比性:原发性AH组平均年龄为45±9.7岁,对照组平均年龄为- 42,5±5.8岁。1组男性患者占总病例数的73.6%(78/106),2-55组男性患者占总病例数的1% (54/98)(χ 2 = 7,62, df = 1, p < 0.005)。对研究基因进行了分子遗传学分型。采用实时聚合酶链反应测定钠通道基因SCNN1A (rs11064153)的单核苷酸多态性。我们评估了样本基因型分布服从Hardy-Weinberg平衡、χ2检验,并估计了比值比(OR)结果。AH患者组携带T/T基因型的频率高于对照组(分别为97.4%和86.6%;χ2 = 8,60, p = 0.01)。因此,携带SCNN1A基因的T/T基因型增加了患者患AH的可能性(OR = 2,27, 95%可信区间(CI) 1,29 - 4,01, p = 0,01)。患者中T等位基因检出率为0.78,是健康人群检出率的1.5倍(χ2 = 7.28;P = 0,007)。仅在AH组的3例患者(2.8%)和对照组的7例患者(7.1%)中检测到C/C基因型。结果发现,SCNN1А基因(rs11064153) C等位基因出现频率比对照组低5倍,分别为0.22和0.34,差异有统计学意义(χ2 = 7,28, p = 0,007)。携带C等位基因(C/C+T/C基因型)与AH患者较低的发病率相关(OR = 0.54;95% CI为0,35 - 0,85,p = 0,007)。在我们检查的样本中,携带C等位基因将AH的可能性降低了2,3倍。我们发现SCNN 1A基因rs11064153变异的T等位基因和T/T基因型增加了患高血压的可能性。携带等位基因C和C/C SCNN1A基因型(rs11064153)可降低发生AH的可能性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Research of the rs11064153 variant of the SCNN1A gene in patients with arterial hypertension and in healthy people in the Trans-Baikal
The aim of the study was to evaluate the putative association of the rs11064153 variant of the SCNN1A sodium channel gene with arterial hypertension (AH) among patients suffering from AH and relatively healthy people in the Trans-Baikal Territory.Design and methods. The present study included 106 patients with a confirmed diagnosis of AH. All participants were included in the study after signing informed consent. The control group consisted of 98 practically healthy people. The groups were comparable in age: the average age in the group with primary AH was 45 ± 9,7 years, in the control group— 42,5 ± 5,8 years. The number of men in group 1 was 73,6% (78/106), in group 2–55,1% (54/98) of the total number of cases (Chi-square = 7,62, df = 1, p < 0,005). Molecular genetics typing of the studied genes was carried out. SNPs of the sodium channel genes SCNN1A (rs11064153) were determined by real-time polymerase chain reaction. We have evaluated the subordination of the distribution of genotypes of samples to the Hardy-Weinberg equilibrium, χ2 -test, and also estimated the odds ratio (OR).Results. Carriage of the T/T genotype in the group of patients with AH was more frequent than in the control group (97,4% and 86,6%, respectively; χ2 = 8,60, p = 0,01). Thus, carriage of the T/T genotype of the SCNN1A gene increased the likelihood of AH in patients (OR = 2,27, 95% confidence interval (CI) 1,29–4,01, p = 0,01). Among patients, the T allele was detected 1,5 times more often with a frequency of 0,78 compared with the group of healthy individuals — 0,22 (χ2 = 7,28; p = 0,007). The C/C genotype was detected only in three patients from the AH group (2,8%) and in seven patients from the control group (7,1%). It was found that the C allele of the SCNN1А gene (rs11064153) 5 times less often than in the control group, and its frequency was 0,22 versus 0,34, respectively (χ2 = 7,28, p = 0,007). The carriage of the C allele (C/C+T/C genotypes) is associated with a lower incidence in patients with AH (OR = 0.54; 95% CI 0,35–0,85, p = 0,007). In the samples examined by us, the carriage of the C allele reduced the likelihood of AH by 2,3 times.Conclusions. We have found that the T allele and the T/T genotype of the rs11064153 variant of the SCNN 1A gene increase the likelihood of developing hypertension. Carrying allele C and the C/C SCNN1A genotype (rs11064153) reduces the likelihood of developing AH.
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来源期刊
Arterial Hypertension (Russian Federation)
Arterial Hypertension (Russian Federation) Medicine-Cardiology and Cardiovascular Medicine
CiteScore
0.90
自引率
0.00%
发文量
38
期刊介绍: The main aims of the Journal include collecting and generalizing the knowledge in hypertensiology; education and professional development of cardiologists and medical doctors of other specialties, who deal with different issues regarding diagnostics, management and prevention of hypertension in both clinical practice and research. The Journal also calls attention to the most urgent and up-to-date questions in hypertensiology, cardiology and related sciences. There are additional objectives, such as increasing the availability, accessibility and recognition of Russian medical scientific achievements at the international level by improving the quality of the publication and the way they are presented; enabling the exchange of opinions and information between scientists and their wider communication. The main criteria for publication selection fit with the mentioned objectives and include currency, singularity, scientific and practical novelty, applied relevance etc.
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