icon fsr

雑誌詳細

文献概要

今月の主題 ファーマコゲノミクス 各論

循環器領域における個別化医療と薬剤感受性

著者: 南畝晋平1 東純一2

所属機関: 1兵庫医療大学薬学部薬物動態学 2兵庫医療大学薬学部臨床ゲノム薬理学

ページ範囲:P.1143 - P.1149

 近年,循環器疾患の個別化医療を目指した研究は,目覚ましい発展を遂げている.先天性QT延長症候群は,そのタイプにより治療方針が異なるが,タイプ分けのための遺伝子診断が2008年4月から本邦で保険適用されている.また,ブシンドロールは,心不全への有効性は否定されていたが,遺伝子多型で被験者を層別化することにより有効性が確認でき,遺伝子多型判定をセットにした承認が,米食品医薬品局(FDA)に申請されている.今後,さらなる研究の発展が期待される.

参考文献

1) Klein TE, Altman RB, Eriksson N, et al:Estimation of the warfarin dose with clinical and pharmacogenetic data. N Engl J Med 360:753-764,2009
2) Mega JL, Close SL, Wiviott SD, et al:Cytochrome p450 polymorphisms and response to clopidogrel. N Engl J Med 360:354-362,2009
3) Link E, Parish S, Armitage J, et al:SLCO1B1 variants and statin-induced myopathy--a genomewide study. N Engl J Med 359:789-799,2008
4) Hedley PL, Jorgensen P, Schlamowitz S, et al:The genetic basis of long QT and short QT syndromes:a mutation update. Hum Mutat 30:1486-1511,2009
5) Lu JT, Kass RS. Recent progress in congenital long QT syndrome. Curr Opin Cardiol,2010
6) Moss AJ, Zareba W, Kaufman ES, et al:Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation 105:794-799,2002
7) Moss AJ, Shimizu W, Wilde AA, et al:Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation 115:2481-2489,2007
8) Rathz DA, Brown KM, Kramer LA, et al:Amino acid 49 polymorphisms of the human beta1-adrenergic receptor affect agonist-promoted trafficking. J Cardiovasc Pharmacol 39:155-160,2002
9) Levin MC, Marullo S, Muntaner O, et al:The myocardium-protective Gly-49 variant of the beta 1-adrenergic receptor exhibits constitutive activity and increased desensitization and down-regulation. J Biol Chem 277:30429-30435,2002
10) Mason DA, Moore JD, Green SA, et al:A gain-of-function polymorphism in a G-protein coupling domain of the human beta1-adrenergic receptor. J Biol Chem 274:12670-12674,1999
11) Mialet Perez J, Rathz DA, Petrashevskaya NN, et al:Beta 1-adrenergic receptor polymorphisms confer differential function and predisposition to heart failure. Nat Med 9:1300-1305,2003
12) Borjesson M, Magnusson Y, Hjalmarson A, et al:A novel polymorphism in the gene coding for the beta(1)-adrenergic receptor associated with survival in patients with heart failure. Eur Heart J 21:1853-1858,2000
13) Magnusson Y, Levin MC, Eggertsen R, et al:Ser49Gly of beta1-adrenergic receptor is associated with effective beta-blocker dose in dilated cardiomyopathy. Clin Pharmacol Ther 78:221-231,2005
14) White HL, de Boer RA, Maqbool A, et al:An evaluation of the beta-1 adrenergic receptor Arg389Gly polymorphism in individuals with heart failure:a MERIT-HF sub-study. Eur J Heart Fail 5:463-468,2003
15) Terra SG, Hamilton KK, Pauly DF, et al:Beta1-adrenergic receptor polymorphisms and left ventricular remodeling changes in response to beta-blocker therapy. Pharmacogenet Genomics 15:227-234,2005
16) de Groote P, Helbecque N, Lamblin N, et al:Association between beta-1 and beta-2 adrenergic receptor gene polymorphisms and the response to beta-blockade in patients with stable congestive heart failure. Pharmacogenet Genomics 15:137-142,2005
17) Sehnert AJ, Daniels SE, Elashoff M, et al:Lack of association between adrenergic receptor genotypes and survival in heart failure patients treated with carvedilol or metoprolol. J Am Coll Cardiol 52:644-651,2008
18) Chen L, Meyers D, Javorsky G, et al:Arg389Gly-beta1-adrenergic receptors determine improvement in left ventricular systolic function in nonischemic cardiomyopathy patients with heart failure after chronic treatment with carvedilol. Pharmacogenet Genomics 17:941-949,2007
19) Liggett SB, Mialet-Perez J, Thaneemit-Chen S, et al:A polymorphism within a conserved beta(1)-adrenergic receptor motif alters cardiac function and beta-blocker response in human heart failure. Proc Natl Acad Sci USA 103:11288-11293,2006
20) Kaye DM, Smirk B, Williams C, et al:Beta-adrenoceptor genotype influences the response to carvedilol in patients with congestive heart failure. Pharmacogenetics 13:379-382,2003
21) Lobmeyer MT, Gong Y, Terra SG, et al:Synergistic polymorphisms of beta1 and alpha2C-adrenergic receptors and the influence on left ventricular ejection fraction response to beta-blocker therapy in heart failure. Pharmacogenet Genomics 17:277-282,2007
22) Liggett SB, Cresci S, Kelly RJ, et al:A GRK5 polymorphism that inhibits beta-adrenergic receptor signaling is protective in heart failure. Nat Med 14:510-517,2008
23) Nonen S, Okamoto H, Fujio Y, et al:Polymorphisms of norepinephrine transporter and adrenergic receptor alpha1D are associated with the response to beta-blockers in dilated cardiomyopathy. Pharmacogenomics J 8:78-84,2008
24) McNamara DM, Holubkov R, Janosko K, et al:Pharmacogenetic interactions between beta-blocker therapy and the angiotensin-converting enzyme deletion polymorphism in patients with congestive heart failure. Circulation 103:1644-1648,2001
25) de Groote P, Helbecque N, Lamblin N, et al:Beta-adrenergic receptor blockade and the angiotensin-converting enzyme deletion polymorphism in patients with chronic heart failure. Eur J Heart Fail 6:17-21,2004
26) Investigators. B-BEoST. A trial of the beta-blocker bucindolol in patients with advanced chronic heart failure. N Engl J Med 344:1659-1667,2001

掲載雑誌情報

出版社:株式会社医学書院

電子版ISSN:1882-1367

印刷版ISSN:0485-1420

雑誌購入ページに移動
icon up
あなたは医療従事者ですか?