Association of NOS3 gene polymorphisms with essential hypertension in Sudanese patients: a case control study.
Association of NOS3 gene polymorphisms with essential hypertension in Sudanese patients: a case control study.
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DOI：
10.1186/s12881-017-0491-7
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发表时间：
2017-11-13
影响因子：
--
通讯作者：
Mohamed AO
中科院分区：
文献类型：
--
作者：
Gamil S;Erdmann J;Abdalrahman IB;Mohamed AO
原发性高血压（EH）受多种环境和遗传因素的影响。一氧化氮对于血管内皮的功能完整性是重要的，并且在内皮细胞中由酶内皮一氧化氮合酶（eNOS）产生。EH具有很强的遗传成分，编码eNOS的NOS 3基因代表了对表型有贡献的有趣候选者。NOS 3基因中最具临床相关性的多态性是外显子7中的rs 1799983（编码Glu 298 Asp）、内含子4中的可变数目串联重复序列（VNTR）和启动子区中的rs 2070744（T-786 C）。本研究的目的是探讨这三个多态性之间的NOS 3基因和高血压在苏丹患者的关联。本病例对照研究包括来自喀土穆各医院的年龄> 18岁的确诊高血压患者（n = 157）和年龄> 18岁且血压测量值<140/90的对照组（n = 85）。使用TaqMan和聚合酶链反应限制性片段长度多态性（PCR-RFLP）分析确定NOS 3变异体的基因型。采用χ2分析比较两组间基因型和等位基因频率的差异，并以比值比和95%可信区间（CI）表示差异。P值<0.05被认为具有统计学显著性。在苏丹人群中发现NOS 3基因rs 2070744多态性与EH相关，患者组CC基因型频率高于对照组（6.6% vs 6.1%，p = 0.02）。考虑到显性遗传模型，患者TC + CC基因型频率显著高于对照组（分别为52.6%和34.1%; p < 0.01），比值比（95%CI）为2.14（1.23-3.74）。此外，C等位基因在患者中的频率高于对照组（29.6%比20%，p = 0.03，OR = 1.84（1.15-2.93））。内含子4 VNTR的c等位基因在所研究的苏丹人群中报道>1%。本研究结果提示，NOS 3基因rs 2070744多态性可能是苏丹人群EH的遗传易感因素。内含子4 VNTR的c等位基因在苏丹人群中并不罕见。本文的在线版本（10.1186/s12881-017-0491-7）包含补充材料，可供授权用户使用。
Essential hypertension (EH) is influenced by various environmental and genetic factors. Nitric oxide is important for the functional integrity of the vascular endothelium and is produced in endothelial cells by the enzyme endothelial nitric oxide synthase (eNOS). EH has a strong genetic component, and the NOS3 gene, which encodes eNOS, represents an interesting candidate for contribution to the phenotype. The most clinically relevant polymorphisms in the NOS3 gene are rs1799983 in exon 7 (encoding Glu298Asp), a variable number tandem repeat (VNTR) in intron 4, and rs2070744 (T-786C) in the promoter region. This study aims to investigate the association between these three polymorphisms in the NOS3 gene and EH in Sudanese patients. Hypertensive patients (n = 157) > 18 years of age with established hypertension from various hospitals in Khartoum, and controls (n = 85) > 18 years of age and with blood pressure measurements <140/90, were included in this case control study. Genotypes at the NOS3 variants were determined using TaqMan and polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) analyses. Genotype and allele frequencies were compared between the two groups by χ2 analysis, and differences were expressed as odds ratios with 95% confidence intervals (CIs). P values <0.05 were considered statistically significant. The rs2070744 polymorphism in NOS3 was found to be associated with EH in the Sudanese population as the patients group had higher frequency of CC genotype compared with the controls (6.6% vs 6.1%, p = 0.02). Considering a dominant inheritance model, the frequency of TC + CC genotypes in patients was significantly higher than that in the control subjects (52.6% vs 34.1%, respectively; p < 0.01), with an odds ratio (95% CI) of 2.14 (1.23–3.74). In addition, the C allele was more frequent in the patients than the control group (29.6% vs 20%, p = 0.03, OR = 1.84 (1.15–2.93)). The c allele of intron 4 VNTR was reported in >1% of the Sudanese population under study. The results of this study indicated that the rs2070744 polymorphism in NOS3 may be a genetic susceptibility factor for EH in the Sudanese population. The c allele of intron 4 VNTR is not rare in the Sudanese population. The online version of this article (10.1186/s12881-017-0491-7) contains supplementary material, which is available to authorized users.
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影响因子：
2.7
作者：
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