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Endothelial Nitric Oxide Synthase Gene Polymorphisms (- 922A > G, - 786 T > C, Intron 4 b/a VNTR and 894 G > T) and Essential Hypertension: An Association Study with Haplotypes Analysis.
Biochemical Genetics ( IF 2.4 ) Pub Date : 2020-06-09 , DOI: 10.1007/s10528-020-09953-2
Zahra Farbood 1 , Amirsaeed Sabeti Aghabozorgi 1 , Azim Nejatizadeh 1 , Hossein Farshidi 2 , Leila Shams 1 , Amirhossein Bahreyni 3, 4 , Elahe Mansouri Babamansouri 1 , Mohammad Shekari 1
Affiliation  

Endothelial Nitric Oxide Synthase (eNOS) is an indispensable regulator of blood pressure through producing Nitric Oxide (NO). There is some evidence to suggest that eNOS gene polymorphisms are associated with Essential Hypertension (EHT). In this study, the potential association between eNOS 4a/4b, A922G, G894T, T786C gene polymorphisms and EHT as individual risk factors and as haplotypes are examined in the southern population of Iran (Bandar-Abbas). In this study, 200 EHT patients and 200 normotensive subjects which were matched for age and sex were included. Genotyping was performed by either utilizing Polymerase Chain Reaction (PCR) or PCR followed by Restriction Fragment length Polymorphism (RFLP) method. Our results demonstrated statistically significant associations between T786C, G894T, and 4a/4a and EHT (p < 0.05); however, A922G had no significant association with EHT (p > 0.05). Haplotype analysis also suggested that − 786C/− 922A/4a, − 786C/− 922A/4b and − 786C/− 922G/4a haplotypes were more frequent in EHT group than control group, hypothesizing a positive association with EHT. The present study has identified that the eNOS genetic variations are associated with EHT in southern population of Iran (Bandar-Abbas). These findings also suggested that a number of haplotypes of eNOS gene may be a driving factor for EHT susceptibility in respected population.

中文翻译:

内皮型一氧化氮合酶基因多态性(-922A> G,-786 T> C,内含子4 b / a VNTR和894 G> T)与原发性高血压:单倍型分析的关联研究。

内皮型一氧化氮合酶(eNOS)是通过产生一氧化氮(NO)来不可或缺的血压调节剂。有证据表明eNOS基因多态性与原发性高血压(EHT)相关。在这项研究中,eNOS之间的潜在关联4a / 4b,A922G,G894T,T786C基因多态性和EHT作为个体危险因素和单倍型在伊朗南部人口中进行了检查(班达-阿巴斯)。在这项研究中,包括了200名EHT患者和200名年龄和性别相匹配的血压正常的受试者。通过利用聚合酶链反应(PCR)或PCR,然后进行限制性片段长度多态性(RFLP)方法进行基因分型。我们的结果表明T786C,G894T和4a / 4a与EHT之间存在统计学上的显着相关性(p  <0.05);但是,A922G与EHT没有显着相关性(p > 0.05)。单倍型分析还表明,EHT组中的-786C /-922A / 4a,-786C /-922A / 4b和-786C /-922G / 4a单倍型比对照组更为频繁,并推测与EHT呈正相关。本研究已经确定,eNOS遗传变异与伊朗南部人口(Bandar-Abbas)的EHT有关。这些发现还表明,eNOS基因的许多单倍型可能是受关注人群中EHT易感性的驱动因素。
更新日期:2020-06-09
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