Association of ABCB1 C3435T Polymorphism with Echocardiographic Index Among Patients with Atherosclerotic Ischemic Stroke and Transient Ischemic Attack


Emerging evidence has suggested that patients with ischemic stroke (IS) and/or transient ischemic attack (TIA) are more likely to exhibit myocardial disorders, which can be reflected by transthoracic echocardiography (TTE). ATP binding cassette transporter 1 (ABCB1) plays an important role in the development and progression of atherosclerotic pathology. The objective of the current study was to investigate the associations of ABCB1 C3435T polymorphism with echocardiographic performances among patients with acute ischemic stroke. Patients with IS or TIA, who were hospitalized and received TTE between October 2016 to March 2019, were enrolled in this study. Demographic data and echocardiographic parameters of each participant were recorded. We included 122 patients, with the respective distribution of 12.30%, 48.36%, and 39.34% in CC, CT, and TT genotypes. There were significant differences among the three ABCB1 types, with respect to RV (P = 0.036). The presence of the TT genotype was associated with increased MVE (OR = 0.13, P = 0.02) but correlated with decreased RV (OR = −1.46, P = 0.02). Our study indicated that ABCB1 C3435T polymorphism is associated with echocardiographic parameters among patients with acute ischemic stroke. The presence of the TT genotype is associated with diastolic function and cardiac hypertrophy.

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


  1. Akijian L, Ní Chróinín D, Callaly E, Hannon N, Marnane M, Merwick A, Sheehan Ó, Hayden D, Horgan G, Duggan J, Kyne L, O’Rourke K, Murphy S, Dolan E, Williams D, Kelly PJ (2017) Why do transient ischemic attack patients have higher early stroke recurrence risk than those with ischemic stroke? Influence of patient behavior and other risk factors in the North Dublin Population Stroke Study. Int J Stroke 12:96–104

    Article  Google Scholar 

  2. Becker ML, Visser LE, van Schaik RH, Hofman A, Uitterlinden AG, Stricker BH (2009) Common genetic variation in the ABCB1 gene is associated with the cholesterol-lowering effect of simvastatin in males. Pharmacogenomics 10:1743–1751

    CAS  Article  Google Scholar 

  3. Berte B, Jost CA, Maurer D, Fah-Gunz A, Pillois X, Naegeli B, Pfyffer M, Sutsch G, Scharf C (2017) Long-term follow-up after left atrial appendage occlusion with comparison of transesophageal echocardiography versus computed tomography to guide medical therapy and data about postclosure cardioversion. J Cardiovasc Electrophysiol 28:1140–1150

    Article  Google Scholar 

  4. Blum A, Reisner S, Farbstein Y (2004) Transesophageal echocardiography (TEE) vs. transthoracic echocardiography (TTE) in assessing cardio-vascular sources of emboli in patients with acute ischemic stroke. Med Sci Monit 10:CR521–CR523

    PubMed  Google Scholar 

  5. Canevari FR, Martines F, Sorrentino R, Nicolotti M, Sireci F (2017) Pseudoaneurysm of superior thyroid artery following a transesophageal echocardiography: a case presentation. Euromed Biomed J 12:10–12

    Google Scholar 

  6. de Bruijn SF, Agema WR, Lammers GJ, van der Wall EE, Wolterbeek R, Holman ER, Bollen EL, Bax JJ (2006) Transesophageal echocardiography is superior to transthoracic echocardiography in management of patients of any age with transient ischemic attack or stroke. Stroke 37:2531–2534

    Article  Google Scholar 

  7. de Groote P, Gressin V, Hachulla E, Carpentier P, Guillevin L, Kahan A, Cabane J, Frances C, Lamblin N, Diot E, Patat F, Sibilia J, Petit H, Cracowski JL, Clerson P, Humbert M (2008) Evaluation of cardiac abnormalities by Doppler echocardiography in a large nationwide multicentric cohort of patients with systemic sclerosis. Ann Rheum Dis 67:31–36

    Article  Google Scholar 

  8. Dhamoon MS, Sciacca RR, Rundek T, Sacco RL, Elkind MS (2006) Recurrent stroke and cardiac risks after first ischemic stroke: the Northern Manhattan Study. Neurology 66:641–646

    CAS  Article  Google Scholar 

  9. Ding X, Yang Q, Su L, Huang X, Zhou Z (2019) Correlation between C3435T locus of ABCB1 gene and poststroke depression in China. DNA Cell Biol 38:808–813

    CAS  Article  Google Scholar 

  10. Dutheil F, Beaune P, Tzourio C, Loriot MA, Elbaz A (2010) Interaction between ABCB1 and professional exposure to organochlorine insecticides in Parkinson disease. Arch Neurol 67:739–745

    Article  Google Scholar 

  11. Gupta VA, Nanda NC, Sorrell VL (2017) Role of echocardiography in the diagnostic assessment and etiology of heart failure in older adults: opacify, quantify, and rectify. Heart Fail Clin 13:445–466

    Article  Google Scholar 

  12. Harloff A, Handke M, Reinhard M, Geibel A, Hetzel A (2006) Therapeutic strategies after examination by transesophageal echocardiography in 503 patients with ischemic stroke. Stroke 37:859–864

    Article  Google Scholar 

  13. Hoffmeyer S, Burk O, von Richter O, Arnold HP, Brockmoller J, Johne A, Cascorbi I, Gerloff T, Roots I, Eichelbaum M, Brinkmann U (2000) Functional polymorphisms of the human multidrug-resistance gene: multiple sequence variations and correlation of one allele with P-glycoprotein expression and activity in vivo. Proc Natl Acad Sci U S A 97:3473–3478

    CAS  Article  Google Scholar 

  14. Ieiri I, Takane H, Otsubo K (2004) The MDR1 (ABCB1) gene polymorphism and its clinical implications. Clin Pharmacokinet 43:553–576

    CAS  Article  Google Scholar 

  15. Kimchi-Sarfaty C, Oh JM, Kim IW, Sauna ZE, Calcagno AM, Ambudkar SV, Gottesman MM (2007) A “silent” polymorphism in the MDR1 gene changes substrate specificity. Science 315:525–528

    CAS  Article  Google Scholar 

  16. Kjaergaard J, Snyder EM, Hassager C, Oh JK, Johnson BD (2006) Impact of preload and afterload on global and regional right ventricular function and pressure: a quantitative echocardiography study. J Am Soc Echocardiogr 19:515–521

    Article  Google Scholar 

  17. Lal S, Wong ZW, Sandanaraj E, Xiang X, Ang PC, Lee EJ, Chowbay B (2008) Influence of ABCB1 and ABCG2 polymorphisms on doxorubicin disposition in Asian breast cancer patients. Cancer Sci 99:816–823

    CAS  Article  Google Scholar 

  18. Le May C, Berger JM, Lespine A, Pillot B, Prieur X, Letessier E, Hussain MM, Collet X, Cariou B, Costet P (2013) Transintestinal cholesterol excretion is an active metabolic process modulated by PCSK9 and statin involving ABCB1. Arterioscler Thromb Vasc Biol 33:1484–1493

    Article  Google Scholar 

  19. Mickley LA, Lee JS, Weng Z, Zhan Z, Alvarez M, Wilson W, Bates SE, Fojo T (1998) Genetic polymorphism in MDR-1: a tool for examining allelic expression in normal cells, unselected and drug-selected cell lines, and human tumors. Blood 91:1749–1756

    CAS  Article  Google Scholar 

  20. Nandigama K, Lusvarghi S, Shukla S, Ambudkar SV (2019) Large-scale purification of functional human P-glycoprotein (ABCB1). Protein Expr Purif 159:60–68

    CAS  Article  Google Scholar 

  21. Paciaroni M, Agnelli G, Falocci N, Caso V, Becattini C, Marcheselli S, Rueckert C, Pezzini A, Poli L, Padovani A, Csiba L, Szabo L, Sohn SI, Tassinari T, Abdul-Rahim AH, Michel P, Cordier M, Vanacker P, Remillard S, Alberti A, Venti M, Acciarresi M, D'Amore C, Mosconi MG, Scoditti U, Denti L, Orlandi G, Chiti A, Gialdini G, Bovi P, Carletti M, Rigatelli A, Putaala J, Tatlisumak T, Masotti L, Lorenzini G, Tassi R, Guideri F, Martini G, Tsivgoulis G, Vadikolias K, Liantinioti C, Corea F, Del SM, Ageno W, De Lodovici ML, Bono G, Baldi A, D'Anna S, Sacco S, Carolei A, Tiseo C, Imberti D, Zabzuni D, Doronin B, Volodina V, Consoli D, Galati F, Pieroni A, Toni D, Monaco S, Baronello MM, Barlinn K, Pallesen LP, Kepplinger J, Bodechtel U, Gerber J, Deleu D, Melikyan G, Ibrahim F, Akhtar N, Lees KR (2016) Prognostic value of trans-thoracic echocardiography in patients with acute stroke and atrial fibrillation: findings from the RAF study. J Neurol 263:231–237

    Article  Google Scholar 

  22. Pan Y, Chen W, Wang Y, Li H, Johnston SC, Simon T, Zhao X, Liu L, Wang D, Meng X, Wang Y, For TCIH (2019) Association between ABCB1 polymorphisms and outcomes of clopidogrel treatment in patients with minor stroke or transient ischemic attack: secondary analysis of a randomized clinical trial. JAMA Neurol 76:552–560

    Article  Google Scholar 

  23. Rigat B, Hubert C, Corvol P, Soubrier F (1992) PCR detection of the insertion/deletion polymorphism of the human angiotensin converting enzyme gene (DCP1) (dipeptidyl carboxypeptidase 1). Nucleic Acids Res 20:1433

    CAS  Article  Google Scholar 

  24. Strandberg M, Marttila RJ, Helenius H, Hartiala J (2002) Transoesophageal echocardiography in selecting patients for anticoagulation after ischaemic stroke or transient ischaemic attack. J Neurol Neurosurg Psychiatry 73:29–33

    CAS  Article  Google Scholar 

  25. Su J, Xu J, Li X, Zhang H, Hu J, Fang R, Chen X (2012) ABCB1 C3435T polymorphism and response to clopidogrel treatment in coronary artery disease (CAD) patients: a meta-analysis. PLoS One 7:e46366

    CAS  Article  Google Scholar 

  26. Wang ZY, Wang Y, Sui AH, Dong Y (2016) Association of ABCB1 gene polymorphisms with aspirin resistance in patients with ischemic stroke. Zhonghua Yi Xue Za Zhi 96:3819–3824

    CAS  PubMed  Google Scholar 

  27. Zhang L, Lv H, Zhang Q, Wang D, Kang X, Zhang G, Li X (2019) Association of SLCO1B1 and ABCB1 genetic variants with atorvastatin-induced myopathy in patients with acute ischemic stroke. Curr Pharm Des 25:1663–1670

    CAS  Article  Google Scholar 

Download references


The authors appreciate all the participants in this study.

Author information



Corresponding author

Correspondence to Long Wang.

Ethics declarations

Conflict of Interest

The authors declare that they no conflict of interest.

Ethics Statement

The Ethics Committtee of Yijishan Hospital approved the study protocol.

Additional information

Publisher’s Note

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

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Wang, L., Yang, L., Zhang, J. et al. Association of ABCB1 C3435T Polymorphism with Echocardiographic Index Among Patients with Atherosclerotic Ischemic Stroke and Transient Ischemic Attack. J Mol Neurosci (2020).

Download citation


  • ABCB1
  • Polymorphism
  • Echocardiography
  • Association
  • Stroke