http://informahealthcare.com/ahb ISSN: 0301-4460 (print), 1464-5033 (electronic) Ann Hum Biol, Early Online: 1–9 ! 2014 Informa UK Ltd. DOI: 10.3109/03014460.2014.968206 RESEARCH PAPER Association of ACE, FABP2 and GST genes polymorphism with essential hypertension risk among a North Indian population Shania Abbas, Syed Tasleem Raza, Anu Chandra, Saliha Rizvi, Faisal Ahmed, Ale Eba, and Farzana Mahdi Department of Biochemistry, Era’s Lucknow Medical College and Hospital, Lucknow, India Abstract Background: Hypertension has a multi-factorial background based on genetic and environ- mental interactive factors. ACE, FABP2 and GST genes have been suggested to be involved in the development of hypertension. However, the results have been inconsistent. Aim: The present study was carried out to investigate the association of ACE (rs4646994), FABP2 (rs1799883) and GST (GSTM1 null or positive genotype and GSTT1 null or positive genotype) genes polymorphism with essential HTN cases and controls. Subjects and methods: This study includes 138 essential hypertension (HTN) patients and 116 age-, sex- and ethnicity-matched control subjects. GST (GSTM1 null or positive genotype and GSTT1 null or positive genotype) genes polymorphisms were evaluated by multiplex PCR, ACE (rs4646994) gene polymorphisms by PCR and FABP2 (rs1799883) gene polymorphisms by PCR- RFLP method. Results: Significant differences were obtained in the frequencies of ACE DD, II genotype (p ¼ 0.006, 0.003), GSTT1 null, GSTM1 positive genotype (p ¼ 0.048, 0.010) and FABP2 Ala54/ Ala54 genotype (p ¼ 0.049) between essential HTN cases and controls. Conclusion: It is concluded that ACE (rs 4646994), FABP2 (rs1799883) and GST (GSTM1 null or positive genotype and GSTT1 null or positive genotype) genes polymorphism are associated with HTN. Further investigation with a larger sample size may be required to validate this study. Keywords Cardiovascular diseases, ethnicity, gene polymorphism, polymerase chain reaction History Received 7 March 2014 Revised 15 September 2014 Accepted 18 September 2014 Published online 30 October 2014 Introduction Hypertension (HTN) is the most common cardiovascular disease (CVD) and this has assumed epidemic proportions in developing countries (Gupta, 2006). It affects nearly 26% of the population worldwide (Kearney et al., 2005). Prevalence of HTN in India, for the last three decades, has increased 30-fold among urban residents and 10-fold among rural residents (Pradeepa & Mohan, 2008). Various risk factors have been implicated in the aetiology of HTN, including geographical, genetic, socio-economic, socio-cultural, dietary and nutritional factors. HTN has become a major concern due to its implied role in coronary heart disease, stroke and other vascular complications. It is a prevalent cardiovascular disorder, posing a major challenge to the public healthcare system. It is one of the major risk factors for cardiovascular mortality, accounting for 20–50% of all deaths (Park, 2005). Of the other likely factors implicated with HTN, Renin- Angiotensin System (RAS) has a central role in regulating blood pressure and sodium homeostasis. The Angiotensin Converting Enzyme (ACE) gene is a major component in the Renin–Angiotensin–Aldosterone System (RAAS) which has been extensively investigated as a genetic determinant of essential hypertension (Qu et al., 2001). ACE is a dipeptidyl carboxypeptidase that removes the C-terminal dipeptide from angiotensin I to produce the potent vasoconstrictor and growth-promoting substance angiotensin II. ACE gene (rs4646994) is mapped to chromosome 17q23 encoded by a 21 Kb fragment that consists of 26 exons and 25 introns (Hubert et al., 1991; Mattei et al., 1989). Presence or absence of a 287- bp element in the ACE gene leads to the insertion/ deletion (I/D) polymorphisms and the D/D, I/D and I/I genotypes (Rigat et al., 1990). A number of studies carried out around the world suggested a genetic pre-disposition of the ACE I/D polymorphism with several diseases, including coronary heart diseases, stroke, hypertension and diabetes mellitus (Gesang et al., 2002; Kennon et al., 1999; Obineche et al., 2001; Zee et al., 1999). However, conflicting results have been reported regarding the association between ACE polymorphism and disease (Moleda et al., 2007; Taal, 2000). Fatty acid-binding proteins (FABPs) are small intracellular polypeptides found in many tissues, they are involved in fatty acid transfer and metabolism (Hsu & Storch, 1996) and encoded by a family of different genes. FABP2 gene encodes intestinal FABP protein (IFABP) expressed only in the absorptive simple columnar epithelial cells of the intestine (enterocytes) (Weiss et al., 2002). The gene for FABP2 (rs1799883) is located in the long arm of chromosome 4. Correspondence: Syed Tasleem Raza, PhD, Department of Biochemistry, Era’s Lucknow Medical College and Hospital, Lucknow 226025, India. Tel: +91 522 2408122, 2408123. Fax: +91 5222407824. E-mail: tasleem24@gmail.com Ann Hum Biol Downloaded from informahealthcare.com by 14.140.243.102 on 11/09/14 For personal use only.