基因的单核苷酸多态性 rs2779249（chr17：26128581 C>A）和 rs2297518（chr17：chr17：27769571 G>A）与东西伯利亚紧张型头痛和动脉高血压重叠综合征的关联。

Association of Single-Nucleotide Polymorphisms Rs2779249 (chr17:26128581 C>A) and Rs rs2297518 (chr17: chr17:27769571 G>A) of the Gene with Tension-Type Headache and Arterial Hypertension Overlap Syndrome in Eastern Siberia.

机构信息

Shared Core Facilities Molecular and Cell Technologies, V.F. Voino-Yasenetsky Krasnoyarsk State Medical University, 660022 Krasnoyarsk, Russia.

Department of General Medical Practice and Outpatient Therapy, Siberian State Medical University, 634050 Tomsk, Russia.

出版信息

Genes (Basel). 2023 Feb 17;14(2):513. doi: 10.3390/genes14020513.

DOI:10.3390/genes14020513

PMID:36833440

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9957272/

Abstract

Inducible nitric oxide (NO) synthase (iNOS), encoded by the gene, promotes the generation of high levels of NO to combat harmful environmental influences in a wide range of cells. iNOS can cause adverse effects, such as falling blood pressure, if overexpressed. Thus, according to some data, this enzyme is an important precursor of arterial hypertension (AH) and tension-type headache (TTH), which are the most common multifactorial diseases in adults. The purpose of this study was to investigate the association of rs2779249 (chr17:26128581 C>A) and rs2297518 (chr17: chr17:27769571 G>A) of the gene with TTH and AH overlap syndrome (OS) in Caucasians in Eastern Siberia. The sample size was 91 participants: the first group-30 patients with OS; the second group-30 patients AH; and the third group-31 healthy volunteers. RT-PCR was used for the determination of alleles and genotypes of the SNPs rs2779249 and rs2297518 of the gene in all groups of participants. We showed that the frequency of allele A was significantly higher among patients with AH compared with healthy volunteers (-value < 0.05). The frequency of the heterozygous genotype CA of rs2779249 was higher in the first group vs. the control (-value = 0.03), and in the second group vs. the control (-value = 0.045). The frequency of the heterozygous genotype GA of rs2297518 was higher in the first group vs. the control (-value = 0.035), and in the second group vs. the control (-value = 0.001). The allele A of rs2779249 was associated with OS (OR = 3.17 [95% CI: 1.31-7.67], -value = 0.009) and AH (OR = 2.94 [95% CI: 1.21-7.15], -value = 0.015) risks compared with the control. The minor allele A of rs2297518 was associated with OS (OR = 4.0 [95% CI: 0.96-16.61], -value = 0.035) and AH (OR = 8.17 [95% CI: 2.03-32.79], -value = 0.001) risks compared with the control. Therefore, our pilot study demonstrated that the SNPs rs2779249 and rs229718 of the gene could be promising genetic biomarkers for this OS risk in Caucasians from Eastern Siberia.

摘要

诱导型一氧化氮合酶（iNOS）由基因编码，可促进高水平的一氧化氮生成，以抵抗多种细胞中有害的环境影响。如果过度表达，iNOS 可能会产生不良反应，如血压下降。因此，根据一些数据，这种酶是动脉高血压（AH）和紧张型头痛（TTH）的重要前体，这是成年人中最常见的多因素疾病。本研究旨在探讨基因的 rs2779249（chr17：26128581 C>A）和 rs2297518（chr17：chr17：27769571 G>A）与白种人东西伯利亚 TTH 和 AH 重叠综合征（OS）的相关性。样本量为 91 名参与者：第一组 30 名 OS 患者；第二组 30 名 AH 患者；第三组 31 名健康志愿者。所有组别的参与者均采用 RT-PCR 法检测基因中 rs2779249 和 rs2297518 等位基因和基因型。我们发现，与健康志愿者相比，AH 患者的等位基因 A 频率明显更高（-值<0.05）。与对照组相比，第一组 rs2779249 的杂合基因型 CA 的频率更高（-值=0.03），第二组 rs2779249 的杂合基因型 CA 的频率更高（-值=0.045）。与对照组相比，第一组 rs2297518 的杂合基因型 GA 的频率更高（-值=0.035），第二组 rs2297518 的杂合基因型 GA 的频率更高（-值=0.001）。与对照组相比，rs2779249 的等位基因 A 与 OS（OR=3.17[95%CI：1.31-7.67]，-值=0.009）和 AH（OR=2.94[95%CI：1.21-7.15]，-值=0.015）风险相关。与对照组相比，rs2297518 的等位基因 A 与 OS（OR=4.0[95%CI：0.96-16.61]，-值=0.035）和 AH（OR=8.17[95%CI：2.03-32.79]，-值=0.001）风险相关。因此，我们的初步研究表明，基因的 rs2779249 和 rs229718 单核苷酸多态性可能是白种人东西伯利亚 OS 风险的有前途的遗传生物标志物。