American Journal of Medical and Biological Research
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American Journal of Medical and Biological Research. 2016, 4(1), 5-9
DOI: 10.12691/ajmbr-4-1-2
Open AccessArticle

Frequency of Estrogen Receptor-1 (ESR-1) Gene Polymorphism (PvuII and XbaI) in Patients with Coronary Artery Disease

Reham A. Mariah1, 2, Hussam Baghdadi1, Kamal El-din Ahmed3, Naglaa Mostafa4, Mongi Mohamed Ahmed Ayat1, 5, Tayseer Nansour6, 7, Manal Mohamed Helmy Nabo8, Salah Mohamed El Sayed1, 9, and Nassar Ayoub Abdellatif Omar10

1Department of Clinical Biochemistry and Molecular Medicine, Taibah Faculty of Medicine, Taibah University, Al-Madinah Al-Munawwarah, Saudi Arabia

2Department of Medical Biochemistry, Tanta Faculty of medicine, Tanta University, Egypt

3Department of Cardiology, Tanta Faculty of medicine, Tanta University, Egypt

4Department of Clinical and Chemical Pathology, National Cancer Institute, Cairo University, Egypt

5Department of Clinical Pathology, Faculty of Medicine, 6th October University, Cairo, Egypt

6Department of Medical Education, Suez Canal Faculty of Medicine, Suez Canal University, Egypt

7Department of Medical Education, Taibah Faculty of Medicine, Taibah University, Al-Madinah Al-Munawwarah, Saudi Arabia

8Division of Pediatric cardiology, Department of Pediatrics, Maternity and Children Hospital, King Abdullah Medical City, Al-Madinah Al-Munawwarah, Kingdom of Saudi Arabia

9Department of Medical Biochemistry, Sohag Faculty of Medicine, Sohag University, Egypt

10Department of Anatomy, Faculty of Medicine, Sohag University, Egypt

Pub. Date: March 26, 2016

Cite this paper:
Reham A. Mariah, Hussam Baghdadi, Kamal El-din Ahmed, Naglaa Mostafa, Mongi Mohamed Ahmed Ayat, Tayseer Nansour, Manal Mohamed Helmy Nabo, Salah Mohamed El Sayed and Nassar Ayoub Abdellatif Omar. Frequency of Estrogen Receptor-1 (ESR-1) Gene Polymorphism (PvuII and XbaI) in Patients with Coronary Artery Disease. American Journal of Medical and Biological Research. 2016; 4(1):5-9. doi: 10.12691/ajmbr-4-1-2

Abstract

Sex hormones might be viewed as biomarkers for cardiovascular health status, as well as protective agents against heart diseases. Coronary artery disease (CAD) is the most common disease in humans and has a complex etiology. In this study, we aimed to investigate the association of CAD with ESR1 PvuII and XbaI gene mutation frequencies and to see if it's important as a genetic risk factor and the susceptibility for CAD in Tanta region, Egypt. By polymerase chain reaction with restriction fragment length polymorphism (PCR- RFLP), we determined the frequency of the ESR1 gene polymorphisms in 110 healthy and 100 CAD sample. Results revealed that there were no significant differences between CAD patients and the control group as regard the frequency AA, AG and GG of XbaI genotype. PvuII genotype frequencies were TT, TC and CC with no significant value. Regarding allele frequencies of PvuII and XbaI polymorphism, they were not statistically important. There was no significant difference among all studied subjects regarding sex, age, menopausal status, cardiac complications and lipid profile, but there was highly significant differences regarding the body mass index. In conclusion, estrogen receptor alpha gene polymorphism Pvu II and XbaI site are not associated with the coronary artery disease.

Keywords:
coronary artery disease estrogen receptor-1 gene allele frequency PCR-RFLP

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References:

[1]  M. Ezzati, M., Lopez, A.D., Rodgers, A., Vander, S. H., Murray, C.J. Comparative Risk Assessment Collaborating Group. Selected major risk factors and global and regional burden of disease. Lancet; 360: 1347-60, 2002.
 
[2]  Gupta, R., Joshi, P., Mohan, V., Reddy, S.K., and Yusuf. S. Global burden of cardiovascular disease. Epidemiology and causation of coronary heart disease and stroke in India. Heart; 94: 16-26, 2008.
 
[3]  Deschamps, A.M. & Murphy, E. (2009). Activation of a novel estrogen receptor, GPER, is cardioprotective in male and female rats. American Journal of Physiology. Heart and Circulatory Physiology. Vol. 297, No. 5 pp. 1806-1813. Deschamps, A.M., Murphy, E. & Sun, J. (2010). Estrogen receptor activation and cardioprotection in ischemia reperfusion injury. Trends in Cardiovascular Medicine, Vol. 20, No. 3, pp. 73-78.
 
[4]  Malkin CJ, Channer KS & Jones TH. (2010). Testosterone and heart failure. Current Opinion in Endocrinology, diabetes, and obesity, Vol. 17, No. 3, pp. 262-268.
 
[5]  Karadağ B, Guven M, Hacıoğlu Y, Oz E, Batar B, Domanic N et al. Relationship bet w een two estrogen receptor-α gene polymorphisms and angiographic coronary artery disease. Anadolu Kardiyol Derg 2009; 9: 267-72.
 
[6]  Tschugguel W, Schneeberger C, et al. Production and actions of estrogens. N Engl J Med. 2002;346:340-352. 5. Mendelsohn ME. Genomic and nongenomic effects of estrogen in the vasculature. Am J Cardiol. 2002; 90:3F-6F.
 
[7]  Hodgin JB, Krege JH, Reddick RL, et al. Estrogen receptor alpha is a major mediator of 17beta-estradiol’s atheroprotective effects on lesion size in Apoe-/- mice. J Clin Invest. 2001;107:333-340.
 
[8]  Sasaki M, Tanaka Y, Sakuragi N, Dahiya R. Six polymorphisms on estrogen receptor 1 gene in Japanese, American and Germanpopulations. Eur J Clin Pharmacol 2003; 59: 389-93.
 
[9]  Mansur ADP, Nogueira CCM, Strunz CMC, Aldrighi JM, Ramires JAF. Genetic polymorphisms of estrogen receptors in patients with premature coronary artery disease. Arch Med Res 2005; 36: 511-7.
 
[10]  Jian WX, Yang YJ, Long JR, Li YN, Deng FY, Jiang DK et al. Estrogen receptor α gene relationship with peak bone mass and body mass index in Chinese nuclear families. J Hum Genet 2005; 50: 477-82.
 
[11]  Senti M et al. Qualitative assessment of previous evidence and an updated meta-analysis confi rms lack of association betweenthe ESR1 rs2234693 (PvuII) variant and coronary heart diseasein men and women. Atherosclerosis 2009; 207: 480-6.
 
[12]  Almeida S, Hutz MH. Estrogen receptor 1 gene polymorphisms and coronary artery disease in the Brazilian population. Braz J Med Biol Res 2009; 39: 447-54.
 
[13]  Rokach A, Pollak A , Rosen L, Friedlander Y, Blumenfeld A, Reznik L et al. Estrogen receptor α gene polymorphisms are associated with the angiographic extent of coronary artery disease. J Clin Endocrinol Metab 2005; 90: 6556-60.
 
[14]  Alevizaki M, Saltiki K, Cimponeriu A, Kanakakis I, Xita N, Alevizaki CC et al. Severity of cardiovascular disease in postmenopausal women: associations with common estrogen receptor α polymorphic variants. Eur J Endocrinol 2007; 156: 489-96.
 
[15]  Lu H, Higashikata T, Inazu A, Nohara A, Yu WX, Shimizu M et al. Association of estrogen receptor-α gene polymorphismswith coronary artery disease in patients with familialhyper cholesterolemia. Arterioscler Th romb Vasc Biol 2002; 22:817-23.
 
[16]  Gensini GG. A more meaningful scoring system for determining the severity of the coronary heart disease. Am J Cardiol 1983; 51: 606.
 
[17]  Molvarec A, Széplaki G, Kovács M, et al. Estrogen receptor alpha (ESR1) PvuII and XbaI gene polymorphisms in ischemic stroke in a Hungarian population. Clin Chim Acta. 2007;382:100-105.
 
[18]  Liping Ding, Lihua Hu , Zhitao Jin , Taohong Hu, Huili Ma, et al. A meta-analysis of correlation of ER gene polymorphisms and risk in Chinese population with coronary heart disease. Life Science Journal 2013;10 (4).
 
[19]  Jin LZ, Chen YC, Ma YD.Association of estrogen receptor α gene Pvu II and XbaI polymorphisms with coronary artery disease. CHINESE JOURNAL OF BIOMEDICALENGINEERING 2010; 16: 136-9.
 
[20]  Abdussemet HAZAR, Fuat DİLMEÇ, Aydemir KOÇARSLAN, Mustafa GÖZ, et al. Th e ESR1 gene polymorphisms in patients with coronary artery disease in the southeastern Turkish population. Turk J Med Sci 2012; 42 (6): 1050-1057.
 
[21]  Xu HY, Hou XW, Wang NF, Hui B, Jin JF, Yun S et al. Gender-specific effect of estrogen receptor-1 gene polymorphisms in coronary artery disease and its angiographic severity in Chinese population. Clin Chim Acta 2008; 395: 130-3.
 
[22]  Boroumand M, Ghaedi M, Mohammadtaghvaei N, Pourgholi L, Anvari MS, Davoodi G et al. Lipid profi le and infl amatory markers associated with estrogen receptor α PvuII and XbaI gene polymorphisms. Transl Res 2009; 153: 288-95.
 
[23]  Lluis-Ganella C, Lucas G, Subirana I, Escurriol V, Tomas M, Senti M et al. Qualitative assessment of previous evidence and an updated meta-analysis confi rms lack of association between the ESR1 rs2234693 (PvuII) variant and coronary heart disease in men and women. Atherosclerosis 2009; 207: 480-6.
 
[24]  Alevizaki M, Saltiki K, Cimponeriu A, Kanakakis I, Xita N, Alevizaki CC et al. Severity of cardiovascular disease in postmenopausal women: associations with common estrogen receptor α polymorphic variants. Eur J Endocrinol 2007; 156: 489-96.
 
[25]  Karadağ B, Güven M, Hacıoğlu Y, Öz E, Batar B, Domaniç N et al. Relationship between two estrogen receptor-α gene polymorphisms and angiographic coronary artery disease. Anadolu Kardiyol Derg 2009; 9: 267-72.