Lack of association between PstI polymorphism in the 3’ flanking region of the apolipoprotein AI gene and serum lipids levels in an Iranian population

authors:

avatar Abbas Pakdel , avatar Ahmad Reza Bandegi , *

Koomesh: Vol.19, issue 3; 619-625
published online: July 02, 2017
article type: Research Article
received: November 02, 2016
accepted: April 02, 2017

how to cite: Pakdel A, Bandegi A R. Lack of association between PstI polymorphism in the 3’ flanking region of the apolipoprotein AI gene and serum lipids levels in an Iranian population. koomesh. 2017;19(3):e152908. 

Abstract

Introduction: ApoAI, is the main protein of HDL and its gene is a member of apoAI-CIII-AIV gene cluster on chromosome 11q23-q24. In some studies, association of PstI polymorphism with dyslipidemia has been reported. This study was designed to investigate the frequency of rare allele (P2) of apoAI gene PstI polymorphism and its association with serum lipids levels in an Iranian population (Semnan city). Materials and Methods: In a case-control study genomic DNA was extracted from whole blood of 76 Iranian hyperlipidemic patients [total cholesterol (TC) > 200 mg/dL, triglyceride (TG) > 150 mg/dL] and 75 healthy control subjects (TC < 200 mg/dL and  TG < 150 mg/dL) The PstI polymorphism was analyzed by PCR-RFLP. Results: The frequencies of the PstI polymorphism minor allele (P2) were 22.14 and 14.7 in the case and control groups respectively (P>0.05). In the case group, patients with P2P2 genotype had lower serum HDL-c and apoAI, compared those with P1P1and P1P2 genotypes (P> 0.05). Conclusion: Considerably, the presence of the rare P2 allele was not associated with lipid levels in the studied population. The association between the polymorphisms and dyslipidemia is quite complicated. We propose evaluation of PstI polymorphism with other polymorphic sites in the apoAI-CIII-AIV gene cluster

References

  • 1.

    Cai G, Zhang B, Shi G, Weng W, Yang L, Xue S. Endothelial lipase genetic polymorphisms and the lipid-lowering response in patients with coronary artery disease on rosuvastatin. Lipids Health Dis 2016; 15: 148.

  • 2.

    Hanh NT, Nhung BT, Dao DT, Tuyet LT, Hop LT, Binh TQ, Thuc VT. Association of apolipoprotein E polymorphism with plasma lipid disorders, independent of obesity-related traits in Vietnamese children. 2016 [updated Oct 10; cited 15 1]; 176]. Available from: http://www.ncbi.nlm.nih.gov/pubmed/27724906##http://download.springer.com/static/pdf/176/art%253A10.1186%252Fs12944-016-0349-6.pdf?originUrl=http%3A%2F%2Flipidworld.biomedcentral.com%2Farticle%2F10.1186%2Fs12944-016-0349-6&token2=exp=1479274848~acl=%2Fstatic%2Fpdf%2F176%2Fart%25253A10.1186%25252Fs12944-016-0349-6.pdf*~hmac=5d19751002d3d77624ffdffa638d574d1a8d5ccc189bf4755304571c598f1a8c.

  • 3.

    Al-Bustan SA, Al-Serri AE, Annice BG, Alnaqeeb MA, Ebrahim GA. Re-sequencing of the APOAI promoter region and the genetic association of the -75G > A polymorphism with increased cholesterol and low density lipoprotein levels among a sample of the Kuwaiti population. Bmc Med Genet 2013; 14: 90.

  • 4.

    Ebrahimi H, Emamian MH, Hashemi H, Fotouhi A. Dyslipidemia and its risk factors among urban middle-aged Iranians: A population-based study. Diabetes Metab Syndr 2016; 10: 149-156.

  • 5.

    Sediri Y, Kallel A, Feki M, Mourali S, Elasmi M, Abdessalem S, et al. Association of a DNA polymorphism of the apolipoprotein AI-CIII-AIV gene cluster with myocardial infarction in a Tunisian population. Eur J Int Med 2011; 22: 407-411.

  • 6.

    Bandegi AR, Firoozrai M, Akbari Eidgahi MR, Kokhaei P. SstI polymorphism of the apolipoprotein CIII gene in Iranian hyperlipidemic patients: a study in Semnan province. Iran J Basic Med Sci 2011; 14: 506-513.

  • 7.

    Bandegi AR, Ehsani Zenouz A, Akbari Eidgahi MR, Shabani AA, Malek M. Study of XmnI polymorphism in 5 region of the apo AI gene in Iranian hyperlipidemic subjects. J Semnan Univ Med Sci 2004; 6: 63-72. (Persian).

  • 8.

    Cohen T, Karathanasis SK, Kazazian HH, Antonarakis SE. DNA polymorphic sites in the human ApoAI-CIII-AIV cluster: Taq I and Ava I. Nucleic Acids Res 1986; 14: 1924.

  • 9.

    Daneshpour MS, Faam B, Mansournia MA, Hedayati M, Halalkhor S, Mesbah-Namin SA, et al. Haplotype analysis of Apo AI-CIII-AIV gene cluster and lipids level: Tehran lipid and glucose study. Endocrine 2012; 41: 103-110.

  • 10.

    Feng DW, Ma RL, Guo H, He J, Yan YZ, Muratbek, et al. Association of APOA1 gene polymorphisms (rs670, rs5069, and rs2070665) with dyslipidemia in the Kazakhs of Xinjiang. Genet Mol Res 2016; 15.

  • 11.

    Groenendijk M, Cantor RM, de Bruin TW, Dallinga-Thie GM. The apoAI-CIII-AIV gene cluster. Atherosclerosis 2001; 157: 1-11.

  • 12.

    Liu B, Yang Q, Wang H, Zeng Y, Hu Z, Ma M, Zhang L. [Association of ApoAI gene rs12721026 polymorphism with cerebral hemorrhage in Changsha Han population and its effect on plasma lipid levels]. Zhong Nan Da Xue Xue Bao Yi Xue Ban 2013; 38: 991-996.

  • 13.

    Kee F, Amouyel P, Fumeron F, Arveiler D, Cambou JP, Evans A, et al. Lack of association between genetic variations of apo A-I-C-III-A-IV gene cluster and myocardial infarction in a sample of European male: ECTIM study. Atherosclerosis 1999; 145: 187-195.

  • 14.

    Ma YQ, Thomas GN, Ng MC, Critchley JA, Cockram CS, Chan JC, Tomlinson B. Association of two apolipoprotein A-I gene MspI polymorphisms with high density lipoprotein (HDL)-cholesterol levels and indices of obesity in selected healthy Chinese subjects and in patients with early-onset type 2 diabetes. Clin Endocrinol 2003; 59: 442-449.

  • 15.

    Marcil M, Boucher B, Gagne E, Davignon J, Hayden M, Genest J, Jr. Lack of association of the apolipoprotein A-I-C-III-A-IV gene XmnI and SstI polymorphisms and of the lipoprotein lipase gene mutations in familial combined hyperlipoproteinemia in French Canadian subjects. J Lipid Res 1996; 37: 309-319.

  • 16.

    Wijsman EM, Brunzell JD, Jarvik GP, Austin MA, Motulsky AG, Deeb SS. Evidence against linkage of familial combined hyperlipidemia to the apolipoprotein AI-CIII-AIV gene complex. Arterioscler Thromb Vasc Biol 1998; 18: 215-226.

  • 17.

    Ordovas JM, Schaefer EJ, Salem D, Ward RH, Glueck CJ, Vergani C, et al. Apolipoprotein A-I gene polymorphism associated with premature coronary artery disease and familial hypoalphalipoproteinemia. N Engl J Med 1986; 314: 671-677.

  • 18.

    Ordovas JM, Civeira F, Genest J Jr, Craig S, Robbins AH, Meade T, et al. Restriction fragment length polymorphisms of the apolipoprotein A-I, C-III, A-IV gene locus. Relationships with lipids, apolipoproteins, and premature coronary artery disease. Atherosclerosis 1991; 87: 75-86.

  • 19.

    Paulweber B, Friedl W, Krempler F, Humphries SE, Sandhofer F. Genetic variation in the apolipoprotein AI-CIII-AIV gene cluster and coronary heart disease. Atherosclerosis 1988; 73: 125-133.

  • 20.

    Hayden MR, Kirk H, Clark C, Frohlich J, Rabkin S, McLeod R, Hewitt J. DNA polymorphisms in and around the Apo-A1-CIII genes and genetic hyperlipidemias. Am J Hum Genet 1987; 40: 421-430.

  • 21.

    Kessling AM, Horsthemke B, Humphries SE. A study of DNA polymorphisms around the human apolipoprotein AI gene in hyperlipidaemic and normal individuals. Clin Genet 1985; 28: 296-306.

  • 22.

    Song J, Park JW, Park H, Kim JQ. Linkage disequilibrium of the Apo AI-CIII-AIV gene cluster and their relationship to plasma triglyceride, apolipoprotein AI and CIII levels in Koreans. Mol Cells 1998; 8: 12-18.

  • 23.

    Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215.

  • 24.

    Juvonen T, Savolainen MJ, Kairaluoma MI, Lajunen LH, Humphries SE, Kesaniemi YA. Polymorphisms at the apoB, apoA-I, and cholesteryl ester transfer protein gene loci in patients with gallbladder disease. J Lipid Res 1995; 36: 804-812.

  • 25.

    Roma P, Gregg RE, Bishop C, Ronan R, Zech LA, Meng MV, et al. Apolipoprotein A-I metabolism in subjects with a PstI restriction fragment length polymorphism of the apoA-I gene and familial hypoalphalipoproteinemia. J Lipid Res 1990; 31: 1753-1760.

  • 26.

    Ahn YI, Valdez R, Reddy AP, Cole SA, Weiss KM, Ferrell RE. DNA polymorphisms of the apolipoprotein AI/CIII/AIV gene cluster influence plasma cholesterol and triglyceride levels in the Mayans of the Yucatan Peninsula, Mexico. Hum Hered 1991; 41: 281-289.

  • 27.

    Peacock RE, Hamsten A, Johansson J, Nilsson-Ehle P, Humphries SE. Associations of genotypes at the apolipoprotein AI-CIII-AIV, apolipoprotein B and lipoprotein lipase gene loci with coronary atherosclerosis and high density lipoprotein subclasses. Clin Genet 1994; 46: 273-282.

  • 28.

    Tybjaerg-Hansen A, Nordestgaard BG, Gerdes LU, Faergeman O, Humphries SE. Genetic markers in the apo AI-CIII-AIV gene cluster for combined hyperlipidemia, hypertriglyceridemia, and predisposition to atherosclerosis. Atherosclerosis 1993; 100: 157-169.

  • 29.

    Singh P, Singh M, Kaur TP, Grewal SS. A novel haplotype in ApoAI-CIII-AIV gene region is detrimental to Northwest Indians with coronary heart disease. Int J Cardiol 2008; 130: E93-E95##.