Neurobiology of Aging
Volume 31, Issue 4 , Pages 647-653 , April 2010

The R219K polymorphism in the ATP-binding cassette transporter 1 gene has a protective effect on atherothrombotic cerebral infarction in Chinese Han ethnic population

  • Ning Wang

      Affiliations

    • Department of Neurology and Institute of Neurology, First Affiliated Hospital, Center of Neuroscience, Fujian Medical University, 20 Chazhong Road, Fuzhou 350005, China
    • ,
  • Xie-Hua Xue

      Affiliations

    • Department of Neurology and Institute of Neurology, First Affiliated Hospital, Center of Neuroscience, Fujian Medical University, 20 Chazhong Road, Fuzhou 350005, China
    • ,
  • Yi Lin

      Affiliations

    • Department of Neurology and Institute of Neurology, First Affiliated Hospital, Center of Neuroscience, Fujian Medical University, 20 Chazhong Road, Fuzhou 350005, China
    • ,
  • Ling Fang

      Affiliations

    • Department of Neurology and Institute of Neurology, First Affiliated Hospital, Center of Neuroscience, Fujian Medical University, 20 Chazhong Road, Fuzhou 350005, China
    • ,
  • Shenxing Murong

      Affiliations

    • Department of Neurology and Institute of Neurology, First Affiliated Hospital, Center of Neuroscience, Fujian Medical University, 20 Chazhong Road, Fuzhou 350005, China
    • ,
  • Zhi-Ying Wu

      Affiliations

    • Department of Neurology and Institute of Neurology, First Affiliated Hospital, Center of Neuroscience, Fujian Medical University, 20 Chazhong Road, Fuzhou 350005, China
    • Department of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, 12 Wulumuqi Middle Road, Shanghai 200040, China
    • Corresponding Author InformationCorresponding author at: Department of Neurology and Institute of Neurology, Huashan Hospital, Institutes of Brain Science and State Key Laboratory of Medical Neurobiology, Shanghai Medical College, Fudan University, 12 Wulumuqi Middle Road, Shanghai 200040, China. Tel.: +86 21 62483421; fax: +86 21 62483421.

Received 30 November 2007 ,Revised 29 April 2008 ,Accepted 28 May 2008.

References 

  1. Andrikovics H, Pongrácz E, Kalina Á, Szilvási A, Aslanidis C, Schmitz G, et al. Decreased frequencies of ABCA1 polymorphisms R219K and V771M in Hungarian patients with cerebrovascular and cardiovascular diseases. Cerebrovasc. Dis. 2006;21:254–259
  2. Bertolini S, Pisciotta L, Di Scala L, Langheim S, Bellocchio A, Masturzo P, et al. Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia. Atherosclerosis. 2004;174:57–65
  3. Bodzioch M, Orso E, Klucken J, Langmann T, Bottcher A, Diederich W, et al. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nat. Genet. 1999;22:347–351
  4. Brooks-Wilson A, Marcil M, Clee SM, Zhang LH, Roomp K, van Dam M, et al. Mutations in ABCA1 in Tangier disease and familial high-density lipoprotein deficiency. Nat. Genet. 1999;22:336–345
  5. Brousseau ME, Bodzioch M, Schaefer EJ, Goldkamp AL, Kielar D, Probst M, et al. Common variants in the gene encoding ATP-binding cassette transporter 1 in men with low HDL cholesterol levels and coronary heart disease. Atherosclerosis. 2001;154:607–611
  6. Cenarro A, Artieda M, Castillo S, Mozas P, Reyes G, Tejedor D, et al. A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia. J. Med. Genet. 2003;40:163–168
  7. Clee SM, Zwinderman AH, Engert JC, Zwarts KY, Molhuizen HO, Roomp K, et al. Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. Circulation. 2001;103:1198–1205
  8. Evans D, Beil FU. The association of the R219K polymorphism in the ATP-binding cassette transporter 1 (ABCA1) gene with coronary artery disease and hyperlipidemia. J. Mol. Med. 2003;81:264–270
  9. Frikke-Schmidt R, Nordestgaard BG, Jensen GB, Tybjaerg-Hansen A. Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population. J. Clin. Invest. 2004;114:1343–1353
  10. Hayden MR, Clee SM, Brooks-Wilson A, Genest J, Attie A, Kastelein JJ. Cholesterol efflux regulatory protein, Tangier disease and familial high-density lipoprotein deficiency. Curr. Opin. Lipidol. 2000;11:117–122
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  12. Koren-Morag N, Tanne D, Graff E, Goldbourt U. Low- and high-density lipoprotein cholesterol and ischemic cerebrovascular disease: the bezafibrate infarction prevention registry. Arch. Intern. Med. 2002;162:993–999
  13. Pasdar A, Yadegarfar G, Cumming A, Whalley L, Clair DS, MacLeod MJ. The effect of ABCA1 gene polymorphisms on ischaemic stroke risk and relationship with lipid profile. BMC Med. Genet. 2007;8:30
  14. Rust S, Rosier M, Funke H, Real J, Amoura Z, Piette J, et al. Tangier disease is caused by mutation in the gene encoding ATP-binding cassette transporter 1. Nat. Genet. 1999;22:352–355
  15. Sacco RL, Benson RT, Kargman DE, Boden-Albala B, Tuck C, Lin IF, et al. High-density lipoprotein cholesterol and ischemic stroke in the elderly: the Northern Manhattan Stroke Study. JAMA. 2001;285:2729–2735
  16. Singaraja RR, Brunham LR, Visscher H, Kastelein JJ, Hayden MR. Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene. Arterioscler. Thromb. Vasc. Biol. 2003;23:1322–1332
  17. Special report from the National Institute of Neurological Disorders and Stroke, 1990. Classification of cerebrovascular diseases III. Stroke, 21, 637–676.
  18. Stockton MC, McMahon SD, Jason LA. Gender and smoking behavior in a worksite smoking cessation program. Addict. Behav. 2000;25:347–360
  19. Takagi S, Iwai N, Miyazaki S, Nonogi H, Goto Y. Relationship between ABCA1 genetic variation and HDL cholesterol level in subjects with ischemic heart diseases in Japanese. Thromb. Haemost. 2002;88:369–370
  20. Tan HHJ, Low PS, Tan YS, Tong MC, Saha N, Yang H, et al. ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore. Hum. Genet. 2003;113:106–117
  21. Zhang Shuan. Meta-analysis on the ischemic stroke with smoking and alcohol consumption in China. Chin. Prev. Med. 2005;6:503–505(in Chinese)

PII: S0197-4580(08)00179-6

doi: 10.1016/j.neurobiolaging.2008.05.032

Neurobiology of Aging
Volume 31, Issue 4 , Pages 647-653 , April 2010

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