SpringerLink
Log in

ACE Gene I/D Polymorphism and Cardiometabolic Risk Factors: A Cross Sectional Study of Rural Population

  • Original Article
  • Published:
Biochemical Genetics Aims and scope Submit manuscript

Abstract

The D allele has been identified as being linked to cardiovascular disease since the discovery of an insertion/deletion (I/D) polymorphism in the ACE gene, this polymorphism has been found to have significant associations with a variety of cardiovascular risk factors. Recent findings indicate a rising prevalence of metabolic disorders among rural populations in develo** nations. Research on health matters has been predominantly focused on urban populations, with relatively less attention given to their rural counterparts Hence, the present study attempts to estimate the prevalence of ACE gene I/D polymorphism and explore its association with various cardiovascular risk factors among Rural Yadav population from India. In the present study, 207 (Male 47, Female 160) members of the Yadav community participated in the cross-sectional study. All the socio-demographic factors, somatometric (anthropometric) variables, and the intravenous blood was collected and Physiological (blood pressure), and biochemical (fasting glucose and lipid profile) parameters were measured as recommended by the American Heart Association, allele-specific PCR of the ACE gene I/D polymorphism was carried out, the PCR products were genotyped on 2% agarose gel Electrophoresis and ACE gene polymorphism was analysed for its association with various cardiovascular risk factors. Among the analysed individuals, 34 (16.4%) were found to have the II genotype, 58 (28.0%) had the ID genotype, and 115 (55.6%) had the DD genotype. The allele frequency of the I allele was found to be 0.31, and the frequency of the D allele was 0.69. The frequency of the DD genotype was found to be significantly higher among individuals with high TC, high TG, and low non-HDL levels (p value < 0.05). When considered collectively, the findings of this study are consistent with the hypothesis that the DD genotype of ACE polymorphism represents a correlation with cardiovascular disease risk factors in this population.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Subscribe and save

Springer+ Basic
EUR 32.99 /Month
  • Get 10 units per month
  • Download Article/Chapter or Ebook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Price includes VAT (Spain)

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  • Abbas S, Raza ST, Chandra A, Rizvi S, Ahmed F, Eba A, Mahdi F (2015) Association of ACE, FABP2 and GST genes polymorphism with essential hypertension risk among a North Indian population. Ann Hum Biol 42(5):461–469

    Article  PubMed  Google Scholar 

  • Al-Harbi EM, Farid EM, Gumaa KA, Singh J (2012) Genotypes and allele frequencies of angiotensin-converting enzyme (ACE) insertion/deletion polymorphism among Bahraini population with type 2 diabetes mellitus and related diseases. Mol Cell Biochem 362:219–223

    Article  CAS  PubMed  Google Scholar 

  • Barbalić M, karić-Jurić T, Cambien F, Barbaux S, Poirier O, Turek S et al (2006) Gene polymorphisms of the renin-angiotensin system and early development of hypertension. Am J Hypertens 19(8):837–842. https://doi.org/10.1016/j.amjhyper.2006.01.004

    Article  Google Scholar 

  • Barley J, Blackwood A, Carter ND, Crews DE, Cruickshank JK, Jeffery S et al (1994) Angiotensin converting enzyme insertion/deletion polymorphism: association with ethnic origin. J Hypertens 12(8):995

    Article  Google Scholar 

  • Cambien F, Costerousse O, Tiret L, Poirier O, Lecerf L, Gonzales MF, Evans A, Arveiler D, Cambou JP, Luc G (1994) Plasma level and gene polymorphism of angiotensin-converting enzyme in relation to myocardial infarction. Circulation 90(2):669–676

    Article  CAS  PubMed  Google Scholar 

  • Chiang FT, Lai ZP, Chern TH, Tseng CD, Hsu KL, Lo HM, Tseng YZ (1997) Lack of association of the angiotensin converting enzyme gene polymorphism with essential hypertension in a Chinese population. Am J Hypertens 10(2):197–201

    Article  CAS  PubMed  Google Scholar 

  • Choudhury I, Jothimalar R, Patra AK (2012) Angiotensin converting enzyme gene polymorphism and its association with hypertension in South Indian population. Indian J Clin Biochem 27(3):265–269

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Dokainish H, Teo K, Zhu J, Roy A, AlHabib KF, ElSayed A, Palileo-Villaneuva L, Lopez-Jaramillo P, Karaye K, Yusoff K, Orlandini A (2017) Global mortality variations in patients with heart failure: results from the International Congestive Heart Failure (INTER-CHF) prospective cohort study. Lancet Glob Health 5(7):e665–e672

    Article  PubMed  Google Scholar 

  • Duru K, Farrow S, Wang JM, Lockette W, Kurtz T (1994) Frequency of a deletion polymorphism in the gene for angiotensin converting enzyme is increased in African-Americans with hypertension. Am J Hypertens 7(8):759–762

    Article  CAS  PubMed  Google Scholar 

  • Friedwald WT, Levy RI, Fredrickson DS (1972) Estimation of the concentration of low density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge. Clin Chem 18:419–503

    Google Scholar 

  • Gaurav M, Vibhanshu G, Shahzad FH, Anwer SK (2011) Effect of angiotensin converting enzyme gene I/D polymorphism in patients with metabolic syndrome in North Indian population. Chin Med J 124(01):45–48

    Google Scholar 

  • Grundy SM, Cleeman JI, Daniels SR, Donato KA, Eckel RH, Franklin BA et al (2005) Diagnosis and management of the metabolic syndrome: an American Heart Association/National Heart, Lung, and Blood Institute Scientific Statement. Circulation 112:2735–2752

    Article  PubMed  Google Scholar 

  • Gupta R (2004) Trends in hypertension epidemiology in India. J Hum Hypertens 18(2):73–78

    Article  CAS  PubMed  Google Scholar 

  • Harrap SB, Davidson HR, Connor JM, Soubrier F, Corvol P, Fraser R et al (1993) The angiotensin I converting enzyme gene and predisposition to high blood pressure. Hypertension 21(4):455–460

    Article  CAS  PubMed  Google Scholar 

  • Hubert C, Houot A-M, Corvol P et al (1991) Structure of the angiotensin I-converting enzyme gene. Two alternate promoters correspond to evolutionary steps of a duplicated gene. J Biol Chem 266:15377–15383

    Article  CAS  PubMed  Google Scholar 

  • Husain MJ, Datta BK, Kostova D, Joseph KT, Asma S, Richter P, Jaffe MG, Kishore SP (2020) Access to cardiovascular disease and hypertension medicines in develo** countries: an analysis of essential medicine lists, price, availability, and affordability. J Am Heart Assoc 9(9):e015302

    Article  PubMed  PubMed Central  Google Scholar 

  • Hussain M, Awan FR, Gujjar A, Hafeez S, Islam M (2018) A case control association study of ACE gene polymorphism (I/D) with hypertension in Punjabi population from Faisalabad. Pak Clin Exp Hypertens 40(2):186–191

    Article  CAS  Google Scholar 

  • Irvin MR, Lynch AI, Kabagambe EK, Tiwari HK, Barzilay JI, Eckfeldt JH, Boerwinkle E, Davis BR, Ford CE, Arnett DK (2010) Pharmacogenetic association of hypertension candidate genes with fasting glucose in the GenHAT Study. J Hypertens 28(10):2076

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ismail M, Akhtar N, Nasir M, Firasat S, Ayub Q, Khaliq S (2004) Association between the angiotensin-converting enzyme gene insertion/deletion polymorphism and essential hypertension in young Pakistani patients. BMB Rep 37(5):552–555

    Article  CAS  Google Scholar 

  • Joshi SR, Anjana RM, Deepa M, Pradeepa R, Bhansali A, Dhandania VK, Joshi PP, Unnikrishnan R, Nirmal E, Subashini R, Madhu SV (2014) Prevalence of dyslipidemia in urban and rural India: the ICMR–INDIAB study. PLoS ONE 9(5):e96808

    Article  PubMed  PubMed Central  Google Scholar 

  • Kandpal V, Sachdeva MP, Saraswathy KN (2016) An assessment study of CVD related risk factors in a tribal population of India. BMC Public Health 16(1):1–8

    Article  Google Scholar 

  • Kumar AS, Sinha N (2020) Cardiovascular disease in India: a 360 degree overview. Med J Armed Forces India 76(1):1–3

    Article  Google Scholar 

  • Kumari S, Sharma N, Thakur S, Mondal PR, Saraswathy KN (2016) Beneficial role of D allele in controlling ACE levels: a study among Brahmins of north India. J Genet 95(2):291–295

    Article  PubMed  Google Scholar 

  • Lackland DT, Weber MA (2015) Global burden of cardiovascular disease and stroke: hypertension at the core. Can J Cardiol 31(5):569–571

    Article  PubMed  Google Scholar 

  • Lindpainter K, Pfeffer MA, Kreutz R, Stampfer MJ, Grodstein F, La Motte F, Buring J, Hennekens CH (1995) A prospective evaluation of an angiotensinconverting-enzyme gene polymorphism and the risk of ischemic heart disease. N Engl J Med 332(11):706–711

    Article  Google Scholar 

  • Miller SA, Dykes DD, Polesky HFRN (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucl Acids Res 16(3):1215

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Morris BJ, Zee RY, Ying LH, Griffiths LR (1993) Independent, marked associations of alleles of the insulin receptor and. dipeptidyl carboxypeptidase-1 genes with essential hypertension. Clin Sci 85:189

    Article  CAS  Google Scholar 

  • Nakano Y, Oshima T, Hiraga H, Matsuura H, Kajiyama G, Kambe M (1998) DD genotype of the angiotensin I-converting enzyme gene is a risk factor for early onset of essential hypertension in Japanese patients. J Lab Clin Med 131(6):502–506

    Article  CAS  PubMed  Google Scholar 

  • Pan YH, Wang M, Huang YM, Wang YH, Chen YL, Geng LJ, Zhao HL (2016) ACE gene I/D polymorphism and obesity in 1,574 patients with type 2 diabetes mellitus. Dis Markers. https://doi.org/10.1155/2016/7420540

    Article  PubMed  PubMed Central  Google Scholar 

  • Pasha MQ, Khan AP, Kumar R, Ram RB, Grover SK, Srivastava KK et al (2002) Variations in angiotensin-converting enzyme gene insertion/deletion polymorphism in Indian populations of different ethnic origins. J Biosci 27:67–70

    Article  PubMed  Google Scholar 

  • Pickering TG, Hall JE, Appel LJ, Falkner BE, Graves J, Hill MN et al (2005) Recommendations for blood pressure measurement in humans and experimental animals: part 1: blood pressure measurement in humans: a statement for professionals from the Subcommittee of Professional and Public Education of the American Heart Association Council on High Blood Pressure Research. Hypertension 45(1):142–161

    Article  CAS  PubMed  Google Scholar 

  • Rana G, Yadav S, Joshi S, Saraswathy KN (2018) Association of DD genotype of angiotensin-converting enzyme gene (I/D) polymorphism with hypertension among a North Indian population. J Community Genet 9:51–55

    Article  PubMed  Google Scholar 

  • Rigat B, Hubert C, Alhenc-Gelas F, Cambien F, Corvol P, Soubrier F (1990) An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels. J Clin Investig 86(4):1343–1346

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Saeed K, Muhammad N, Haris M, Hussain S, Hussain SI, Gul S et al (2019) ACE gene polymorphism in hypertension patients from District Kohat. J Bio-Molecular Sci 6(1):17–22

    Google Scholar 

  • Saini S, Rajkumari S, Gupta U, Saraswath KN (2016) Angiotensin converting enzyme gene insertion/deletion polymorphism among the tribal and non-tribal populations of Rajasthan. Voice Intellect Man 6(1):69–76

    Google Scholar 

  • Sayed-Tabatabaei FA, Oostra BA, Isaacs A, Van Duijn CM, Witteman JC (2006) ACE polymorphisms. Circ Res 98(9):1123–1133

    Article  CAS  PubMed  Google Scholar 

  • Shanmugam V, Sell KW, Saha BK (1993) Misty** ACE heterozygotes. PCR Methods Appl 3(2):120–121

    Article  CAS  PubMed  Google Scholar 

  • Singh PP, Naz I, Gilmour A, Singh M, Mastana S (2006) Association of APOE (Hha1) and ACE (I/D) gene polymorphisms with type 2 diabetes mellitus in North West India. Diabetes Res Clin Pract 74(1):95–102

    Article  CAS  PubMed  Google Scholar 

  • Staessen JA, Wang JG, Ginocchio G, Petrov V, Saavedra AP, Soubrier F, Vlietinck R, Fagard R (1997) The deletion/insertion polymorphism of the angiotensin converting enzyme gene and cardiovascular-renal risk. J Hypertens 15(12):1579–1592

    Article  CAS  PubMed  Google Scholar 

  • Strazzullo P, Galletti F, Barba G (2003) Altered renal handling of sodium in human hypertension: short review of the evidence. Hypertension 41(5):1000–1005

    Article  CAS  PubMed  Google Scholar 

  • Thomas H, Diamond J, Vieco A, Chaudhuri S, Shinnar E, Cromer S, Perel P, Mensah GA, Narula J, Johnson CO, Roth GA (2018) Global atlas of cardiovascular disease. Glob Heart 13(3):143–163

    Article  PubMed  Google Scholar 

  • Uemura K, Nakura J, Kohara K, Miki T (2000) Association of ACE I/D polymorphism with cardiovascular risk factors. Hum Genet 107:239–242

    Article  CAS  PubMed  Google Scholar 

  • Ulu A, Elsobky E, Elsayed M, Yıldız Z, Tekin M, Akar N (2006) Frequency of five thrombophilic polymorphisms in the Egyptian population. Turk J Hematol 23(2):100–103

    CAS  Google Scholar 

  • Vallejo M, Martinez-Palomino G, Ines-Real S, Perez-Hernandez N, Juarez-Rojas JG, Vargas-Alarcon G (2009) Relationship between the angiotensin I–converting enzyme insertion/deletion (I/D) polymorphism and cardiovascular risk factors in healthy young Mexican women. Genet Test Mol Biomarkers 13(2):237–242

    Article  CAS  PubMed  Google Scholar 

  • Woetzel J, Remes J, Law J (2016) Urban world: Meeting the demographic challenge. McKinsey Global Institute

    Google Scholar 

  • ** B, Ruiter R, Chen J, Pan H, Wang Y, Mi J (2012) The ACE insertion/deletion polymorphism and its association with metabolic syndrome. Metabolism 61(6):891–897

    Article  CAS  PubMed  Google Scholar 

  • Zarouk WA, Hussein IR, Esmaeil NN, Raslan HM, Reheim HA, Moguib O et al (2012) Association of angiotensin converting enzyme gene (I/D) polymorphism with hypertension and type 2 diabetes. Bratisl Lek Listy 113(1):14–18

    CAS  PubMed  Google Scholar 

  • Zmorzynski S, Szudy-Szczyrek A, Popek-Marciniec S, Korszen-Pilecka I, Wojcierowska-Litwin M, Luterek M et al (2019) ACE insertion/deletion polymorphism (rs4646994) is associated with the increased risk of multiple myeloma. Front Oncol 9:44

    Article  PubMed  PubMed Central  Google Scholar 

Download references

Acknowledgements

Authors are thankful to the participants voluntarily supported and provided data for this study.

Funding

This work was supported by Department of Anthropology, University of Delhi and a Grant for the project from the Institution of Eminence (Minor Project), from University of Delhi, New Delhi India-11007 (Grant No:- IOE/2021/12/FRP).

Author information

Authors and Affiliations

  1. Department of Anthropology, University of Delhi, Delhi, 110007, India

    Neha Kumari, Rajeev Ahirwar, Amarjeet Yadav & Prakash Ranjan Mondal

  2. Cardiac Biochemistry, All India Institute of Medical Sciences, New Delhi, 110029, India

    Lakshmy Ramakrishnan

  3. Department of Zoology, Swami Shraddhanand College, University of Delhi, Delhi, 110036, India

    Surender Kumar Sagar

Authors
  1. Neha Kumari
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Rajeev Ahirwar
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Amarjeet Yadav
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Lakshmy Ramakrishnan
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Surender Kumar Sagar
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Prakash Ranjan Mondal
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

Design study—PRM, RA. Practical performance—NK, AY. Data analysis—NK, RA, AY, PRM. Preparation manuscript—NK, RA, PRM. Critical review manuscript—PRM, LR, SKS,

Corresponding author

Correspondence to Prakash Ranjan Mondal.

Ethics declarations

Conflict of interest

The author declares no conflict of interest regarding the manuscript.

Informed Consent

Informed consent was obtained from all individual participants included in the study.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Kumari, N., Ahirwar, R., Yadav, A. et al. ACE Gene I/D Polymorphism and Cardiometabolic Risk Factors: A Cross Sectional Study of Rural Population. Biochem Genet 62, 1008–1020 (2024). https://doi.org/10.1007/s10528-023-10462-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10528-023-10462-1

Keywords

Search

Navigation