Analysis of Angiotensin Converting Enzyme, Endothelial Nitric Oxide Synthase & Serotonin Gene Polymorphisms among Atrial Septal Defect Subjects with and without Pulmonary Arterial Hypertension
by
Nur Ilyana Jaafar 1, Ramachandran Vasudevan 2,*, Patimah Ismail 1,*, Ahmad Fazli Abdul Aziz 3, Nur Afiqah Mohamad 2
, Geetha Kandavello 4, Raja Nurzatul Effah Raja Adnan 2 and Vinod Balasubramaniam 5
Nur Ilyana Jaafar 1, Ramachandran Vasudevan 2,*, Patimah Ismail 1,*, Ahmad Fazli Abdul Aziz 3, Nur Afiqah Mohamad 2, Geetha Kandavello 4, Raja Nurzatul Effah Raja Adnan 2 and Vinod Balasubramaniam 5
1
Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang 43400, Malaysia
2
Malaysian Research Institute on Ageing, Universiti Putra Malaysia, Serdang 43400, Malaysia
3
Department of Medicine, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang 43400, Malaysia
4
Department of Pediatric Clinic, National Heart Institute, Jalan Tun Razak, Kuala Lumpur 50400, Malaysia
5
Jeffrey Cheah School of Medicine and Health Sciences, Monash University Malaysia, Bandar Sunway 47500, Malaysia
*
Authors to whom correspondence should be addressed.
J. Cardiovasc. Dev. Dis. 2018, 5(3), 48; https://doi.org/10.3390/jcdd5030048
Received: 10 July 2018 / Revised: 14 September 2018 / Accepted: 17 September 2018 / Published: 18 September 2018
Genetic polymorphisms are variations in DNA sequences which can influence either disease susceptibility, severity, or prognosis. Pulmonary arterial hypertension (PAH) is one of the complications that occurs in certain patients who have atrial septal defect (ASD). This study seeks to determine the association of gene polymorphisms with the pathogenesis of PAH in ASD patients. This study was conducted on 30 ASD patients with PAH, and 50 ASD patients who were not diagnosed with PAH. All respondents were Malay. Patients were selected based on stringent inclusion and exclusion criteria. Molecular analyses were done to detect the genetic polymorphisms of angiotensin converting enzyme (ACE I/D), serotonin transporter (5-HTTLPR), endothelial nitric oxide synthase (eNOS) G894T, and eNOS 4b/4a. The genotypes of these genetic polymorphisms were determined using conventional PCR and PCR-RFLP methods. The PCR products were analysed using agarose gel electrophoresis. Statistical analysis was done using SPSS Version 22. Clinical characteristics, such as the diameter of ASD, mean arterial pressure (MAP), and mean pulmonary artery pressure (mPAP) differed significantly (p < 0.05). Based on the statistical analysis, ACE I/D, eNOS G894T, and eNOS 4b/4a do not contribute to the progression of PAH amongst ASD patients (p > 0.05). However, the L allele of the 5-HTTLPR gene polymorphism may have an affect on the development of PAH in ASD patients (p < 0.05).
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MDPI and ACS Style
Jaafar, N.I.; Vasudevan, R.; Ismail, P.; Abdul Aziz, A.F.; Mohamad, N.A.; Kandavello, G.; Raja Adnan, R.N.E.; Balasubramaniam, V. Analysis of Angiotensin Converting Enzyme, Endothelial Nitric Oxide Synthase & Serotonin Gene Polymorphisms among Atrial Septal Defect Subjects with and without Pulmonary Arterial Hypertension. J. Cardiovasc. Dev. Dis. 2018, 5, 48.
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