Role of SNP (Rs12709426) In Ace Gene on the Onset of Hypertension

Author Name:
Author Email:


ACE (Angiotensin 1 converting Enzyme) involved in regulating the blood pressure. Hypertension being one of the dreadful cause of several diseases and especially heart failures, require an at most attention to resolve or treat the condition. The current work involves the study of a reported SNP rs12709426 in ACE gene involved in effecting blood pressure. The current work involves blood sample collection from several diseased and control individuals. Extraction of the Genomic DNA from these samples followed by Agarose Gel electrophoresis to confirm the presence of the DNA. The sequence of ACE was retrieved and primers were designed to amplify specifically the SNP containing region. The amplified products are further subjected for agarose gel electrophoresis so as to confirm the quality of the amplicons. All the amplicons are further subjected for ABI sequencing in order to read the genomic DNA of the samples tested. The sequences obtained were further analysed using bioinformatics tools to identify the exact SNP that might be present in the samples. Based on the presence or absence of the selected SNP in the samples the importance of the SNP in the onset of the adverse condition can be identified.



Hypertension also known as high blood pressure, is a long term medical condition in which the blood pressure is elevated. Long term high blood pressure is a major risk factor for coronary artery disease, stroke, heart failure, peripheral vascular disease, vision loss, and chronic kidney disease.( source : Wikipedia)



  • With high blood pressure report headaches (particularly at the back of the head and in the morning), as well as light headedness, vertigo, tinnitus (buzzing or hissing in the ears), altered vision or fainting episodes
  • On physical examination, hypertension may be associated with the presence of changes in the optic fundus seen by ophthalmoscopy.

Types of Hypertension             

Essential hypertension (also called primary hypertension or idiopathic hypertension) is the form of hypertension that by definition has no identifiable cause. It is the most common type of hypertension, affecting 95% of hypertensive patients. Secondary hypertension (or, less commonly, inessential hypertension) is a type of hypertension which by definition is caused by an identifiable underlying secondary cause. It is much less common than the other type, called essential hypertension affecting only 5% of hypertensive patients.( source: Naish, Jeannette; Court, Denise Syndercombe (2014). Medical sciences (2 ed.). p. 562. ISBN 9780702052491.)


Primary hypertension:

Essential hypertension (also called primary hypertension or idiopathic hypertension) is the form of hypertension that by definition has no identifiable cause. It is the most common type of hypertension, affecting 95% of hypertensive patients, it tends to be familial and is likely to be the consequence of an interaction between environmental and genetic factors. Prevalence of essential hypertension increases with age, and individuals with relatively high blood pressure at younger ages are at increased risk for the subsequent development of hypertension. Hypertension can increase the risk of cerebral, cardiac, and renal events.


Secondary hypertension

Secondary hypertension (or, less commonly, inessential hypertension) is a type of hypertension which by definition is caused by an identifiable underlying secondary cause. It is much less common than the other type, called essential hypertension affecting only 5% of hypertensive patients. It has many different causes including kidney diseases and tumours. It also can be a side effect of many medication.


ACE gene is known to be involved in hypertension as analysed by gene cards data base. This gene is important in activating the Angiotensin by converting inactive angiotensin 1 to active angiotensin 2. This angiotensin two plays a major role in controlling blood pressure by its vasopressor activity.

In order to control the hypertension condition certain inhibitors of ACE are used that can inhibit the       vasocompression and regulate the blood flow.


The current work was undertaken to analyse the effect of mutations on the onset of Hypertension. For this several blood samples were collected and the known SNP region was targeted and the Primers were developed. The targeted region was amplified using PCR and the amplicons were sent for sequencing using ABI sequencer. The results of the sequencing were represented as chromatograms which were converted to sequence file format and the sequences were compared using CLUSTAL W software from SDSC biology workbench. The results indicated that out of the total 7 diseased samples collected and tested 3 showed the change in the amino acids from A to G. However there was no effect in any other region on the sequence. Regarding the normal samples all the 3 sequences were normal without showing any SNP. Thus the study can be concluded that the onset of hypertension may be either due to genetic cause or other environmental factors as all the diseased samples did not show the SNP.



  1. Aburto NJ, Ziolkovska A, Hooper L, Elliott P, Cappuccio FP, Meerpohl JJ (2013). “Effect of lower sodium intake on health: systematic review and meta-analyses.”. BMJ. 346: f1326. doi:1136/bmj.f1326PMC4816261 PMID 23558163.


  1. Addison WL (March 1928). “The Use of Sodium Chloride, Potassium Chloride, Sodium Bromide, and Potassium Bromide in Cases of Arterial Hypertension which are Amenable to Potassium Chloride”.Can Med Assoc J. 18 (3): 281–85. PMC 1710082PMID 20316740.


  1. Arsenic Author: Frances M Dyro, MD, Chief of the Neuromuscular Section, Associate Professor, Department of Neurology, New York Medical College, Westchester Medical Center


  1. atsdr-medical management guidelines for arsenic trioxide


  1. James, PA.; Oparil, S.; Carter, BL.; Cushman, WC.; Dennison-Himmelfarb, C.; Handler, J.; Lackland, DT.; Lefevre, ML.; et al. (Dec 2013). “2014 Evidence-Based Guideline for the Management of High Blood Pressure in Adults: Report From the Panel Members Appointed to the Eighth Joint National Committee (JNC 8)”. JAMA. 311(5): 507–20. doi:10.1001/jama.2013.284427. PMID 24352797)


  1. Semlitsch, T; Jeitler, K; Berghold, A; Horvath, K; Posch, N; Poggenburg, S; Siebenhofer, A (2 March 2016). “Long-term effects of weight-reducing diets in people with hypertension.”. The Cochrane database of systematic reviews. 3: CD008274. doi:1002/14651858.CD008274.pub3PMID26934541. Retrieved 9 March 2016.


7. Silverberg DS, Iaina A, Oksenberg A (January 2002). “Treating Obstructive Sleep Apnea Improves Essential Hypertension and Quality of Life”. American Family          Physician. 65 (2): 229–36. PMID 11820487.


  1. Williams B et al.; British Hypertension Society; Michael Sutters, MD (2006). “Secondary Hypertension”. Hypertension Etiology & Classification – Secondary Hypertension. Armenian Medical Network. Retrieved 2007-12-02.


  1. Yokoyama, Yoko; Nishimura, Kunihiro; Barnard, Neal D.; Takegami, Misa; Watanabe, Makoto; Sekikawa, Akira; Okamura, Tomonori; Miyamoto, Yoshihiro (2014). “Vegetarian Diets and Blood Pressure”. JAMA Internal Medicine. 174(4): 577–87. doi:10.1001/jamainternmed.2013.14547ISSN2168-6106PMID 24566947.


15 total views, 0 views today

About the author: dev