慢性阻塞性肺疾病個體化治療與藥物基因組學研究_West China Medical Journal

Authors：

李興明 ,  王憲剛

Corresponding?author：

王憲剛, Email: wxg21cd@163.com

Keywords：

慢性阻塞性肺疾病; 個體化用藥; 藥物基因組學; 遺傳多態性

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隨著分子生物學、分子遺傳學與分子藥理學，特別是藥物基因組學的發展，人們逐漸認識到，不同個體對同一藥物的不同反應，大多源于基因的差異。由此，在遺傳藥理學的基礎上，發展形成了藥物基因組學這一新學科，以分子和基因水平上的研究揭示個體對藥物不同反應的機制，為科學合理用藥開拓了新的思路和途徑。現就慢性阻塞性肺疾病患者常用藥物的藥物基因組學與個體化治療進行綜述。

Citation： 李興明,王憲剛. 慢性阻塞性肺疾病個體化治療與藥物基因組學研究. West China Medical Journal, 2012, 27(7): 985-987. doi: Copy

1.	Viegi G, Scognamiglio A, Baldacci S, et al. Epidemiology of chronic obstructive pulmonary disease (COPD)[J]. Respiration, 2001, 68(1): 419.
2.	何權瀛. 中國慢性阻塞性肺疾病患者現狀研究主要結果[J]. 中國醫學論壇報, 2007, 9(33): 5.
3.	劉旭, 李明春, 紀松崗, 等. 基因多態性與臨床合理用藥[J]. 中國醫藥指南, 2012, 10(4): 75-77.
4.	成碟, 徐為人, 劉昌孝. 細胞色素P450(CYP450)遺傳多態性研究進展[J]. 中國藥理學通報, 2006, 22(12): 1409-1414.
5.	陳杰, 陳孝. 細胞色素P450基因多態性對藥物療效和安全性的影響[J]. 藥品評價, 2010, 7(4): 58-62.
6.	王黎青, 陳小平, 胡哲益, 等. 中國人CYP1A2基因多態性與茶堿清除率的相關性研究[C]//第八次全國藥物與化學異物代謝學術會議論文摘要. 大連: 中國藥理學會藥物代謝專業委員會, 2006: 40.
7.	Hustert E, Zibat A, Presecan-Siedel E, et al. Natural protein variants of pregnane X receptor with altered transactivation activity toward CYP3A4[J]. Drug Metab Dispos, 2001, 29(11): 1454-1459.
8.	Gregg C. Drug interactions and anti-infective therapies[J]. Am J Med, 1999, 106(2): 227-237.
9.	史卉妍, 屈霞, 楊國平, 等. CYP2C19基因型與CYP3A4抑制藥紅霉素對伏立康唑藥動學的影響[C]//中國藥理學會第九次全國會員代表大會暨全國藥理學術會議論文集. 北京: 中國藥理學會, 2007: 135.
10.	婁小娥, 章輝, 吳美珍. 藥物基因組學與個體化用藥[J]. 中國醫院藥學雜志, 2002, 22(5): 304-305.
11.	Nuclear Receptors Committee. A unified nomenclature system for the nuclear recept or super family[J]. Cell, 1999, 97: 161-163.
12.	Ito K, Chung KF, Adcock IM. Update on glucocorticoid action and resistance[J]. J Allergy Clin Immunol, 2006, 117(3): 522-543.
13.	Charmandari E, Kino T, Ichijo T, et al. Functional characterization of the natural human glucocorticoid receptor (hGR) mutants hGRalphaR477H and hGRalphaG679S associated with generalized glucocorticoid resistance[J]. J Clin Endocrinol Metab, 2006, 91(4): 1535-1543.
14.	Charmandari E, Kino T, Chrousos GP. Familial/sporadic glucocorticoid resistance: clinical phenotype and molecular mechanisms[J]. Ann N Y Acad Sci, 2004, 1024: 168-181.
15.	Hurley DM, Accili D, Stratakis CA, et al. Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance[J]. J Clin Invest, 1991, 87(2): 680-686.
16.	Karl M, Lamberts SW, Detera-Wadleigh SD, et al. Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor gene[J]. J Clin Endocrinol Metab, 1993, 76(3): 683-689.
17.	Malchoff DM, Brufsky A, Reardon G, et al. A mutation of the glucocorticoid receptor in primary cortisol resistance[J]. J Clin Invest, 1993, 91(5): 1918-1925.
18.	Vottero A, Kino T, Combe H, et al. A novel, C-terminal dominant negative mutation of the GR causes familial glucocorticoid resistance through abnormal interactions with p160 steroid receptor coactivators[J]. Clin Endocrinol Metab, 2002, 87(6): 2658-2667.
19.	Ruiz M, Lind U, Gåfvels M, et al. Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance[J]. Clin Endocrinol (Oxf), 2001, 55(3): 363-371.
20.	Karl M, Lamberts SW, Koper JW, et al. Cushing’s disease preceded by generalized glucocorticoid resistance: clinical consequences of a novel, dominant-negative glucocorticoid receptor mutation[J]. Proc Assoc Am Physicians, 1996, 108(4): 296-307.
21.	Kino T, Stauber RH, Resau JH, et al. Pathologic human GR mutant has a transdominant negative effect on the wild-type GR by inhibiting its translocation into the nucleus: importance of the ligand-binding domain for intracellular GR trafficking[J]. J Clin Endocrinol Metab, 2001, 86(11): 5600-5608.
22.	趙峰, 蔡累, 遆新宇, 等. 糖皮質激素受體基因R477H多態性與激素抵抗型哮喘的相關性[J]. 臨床肺科雜志, 2009, 14(5): 597-599.
23.	趙峰, 劉穎格, 遆新宇, 等. 糖皮質激素受體基因D641V多態性與激素抵抗型哮喘的相關性[C]//中國生理學會第23屆全國會員代表大會暨生理學學術大會論文摘要文集. 北京: 中國生理學會, 2010, 284.
24.	趙峰, 遆新宇, 蔡累, 等. 糖皮質激素受體基因G679S多態性與激素抵抗型哮喘的相關性[J]. 第四軍醫大學學報, 2009, 30(6): 541-544.
25.	Lee DK, Currie GP, Hall IP, et al. The arginine-16 beta2-adrenoceptor polymorphism predisposes to bronchoprotective subsensitivity in patients treated with formoterol and salmeterol[J]. Br J Clin Pharmacol, 2004, 57(1): 68-75.
26.	Israel E, Chinchilli VM, Ford JG, et al. Use of regularly scheduled albuterol treatment in asthma: genotype-stratified, randomised, placebo-controlled cross-over trial[J]. Lancet, 2004, 364(9444): 1505-1512.
27.	王雪峰. COPD患者β2腎上腺素受體基因多態性對福莫特羅支氣管擴張反應的影響[D]. 昆明: 昆明醫學院, 2008: 1-49.
28.	Sampson AP, Siddiqui S, Buchanan D, et al. Variant LTC(4) synthase allele modifies cysteinyl leukotriene synthesis in eosinophils and predicts clinical response to zafirlukast[J]. Thorax, 2000, 55 (Suppl 2): S28-S31.
29.	Fenech AG, Ebejer MJ, Felice AE, et al. Mutation screening of the muscarinic M(2) and M(3) receptor genes in normal and asthmatic subjects[J]. Br J Pharmacol, 2001, 133(1): 43-48.
30.	Kwatra D, Vadlapatla RK, Vadlapudi AD, et al. Interaction of gatifloxacin with efflux transporters: a possible mechanism for drug resistance[J]. Int J Pharm, 2010, 395(1-2): 114-121.

1. 　Viegi G, Scognamiglio A, Baldacci S, et al. Epidemiology of chronic obstructive pulmonary disease (COPD)[J]. Respiration, 2001, 68(1): 419.
2. 　何權瀛. 中國慢性阻塞性肺疾病患者現狀研究主要結果[J]. 中國醫學論壇報, 2007, 9(33): 5.
3. 　劉旭, 李明春, 紀松崗, 等. 基因多態性與臨床合理用藥[J]. 中國醫藥指南, 2012, 10(4): 75-77.
4. 　成碟, 徐為人, 劉昌孝. 細胞色素P450(CYP450)遺傳多態性研究進展[J]. 中國藥理學通報, 2006, 22(12): 1409-1414.
5. 　陳杰, 陳孝. 細胞色素P450基因多態性對藥物療效和安全性的影響[J]. 藥品評價, 2010, 7(4): 58-62.
6. 　王黎青, 陳小平, 胡哲益, 等. 中國人CYP1A2基因多態性與茶堿清除率的相關性研究[C]//第八次全國藥物與化學異物代謝學術會議論文摘要. 大連: 中國藥理學會藥物代謝專業委員會, 2006: 40.
7. 　Hustert E, Zibat A, Presecan-Siedel E, et al. Natural protein variants of pregnane X receptor with altered transactivation activity toward CYP3A4[J]. Drug Metab Dispos, 2001, 29(11): 1454-1459.
8. 　Gregg C. Drug interactions and anti-infective therapies[J]. Am J Med, 1999, 106(2): 227-237.
9. 　史卉妍, 屈霞, 楊國平, 等. CYP2C19基因型與CYP3A4抑制藥紅霉素對伏立康唑藥動學的影響[C]//中國藥理學會第九次全國會員代表大會暨全國藥理學術會議論文集. 北京: 中國藥理學會, 2007: 135.
10. 　婁小娥, 章輝, 吳美珍. 藥物基因組學與個體化用藥[J]. 中國醫院藥學雜志, 2002, 22(5): 304-305.
11. 　Nuclear Receptors Committee. A unified nomenclature system for the nuclear recept or super family[J]. Cell, 1999, 97: 161-163.
12. 　Ito K, Chung KF, Adcock IM. Update on glucocorticoid action and resistance[J]. J Allergy Clin Immunol, 2006, 117(3): 522-543.
13. 　Charmandari E, Kino T, Ichijo T, et al. Functional characterization of the natural human glucocorticoid receptor (hGR) mutants hGRalphaR477H and hGRalphaG679S associated with generalized glucocorticoid resistance[J]. J Clin Endocrinol Metab, 2006, 91(4): 1535-1543.
14. 　Charmandari E, Kino T, Chrousos GP. Familial/sporadic glucocorticoid resistance: clinical phenotype and molecular mechanisms[J]. Ann N Y Acad Sci, 2004, 1024: 168-181.
15. 　Hurley DM, Accili D, Stratakis CA, et al. Point mutation causing a single amino acid substitution in the hormone binding domain of the glucocorticoid receptor in familial glucocorticoid resistance[J]. J Clin Invest, 1991, 87(2): 680-686.
16. 　Karl M, Lamberts SW, Detera-Wadleigh SD, et al. Familial glucocorticoid resistance caused by a splice site deletion in the human glucocorticoid receptor gene[J]. J Clin Endocrinol Metab, 1993, 76(3): 683-689.
17. 　Malchoff DM, Brufsky A, Reardon G, et al. A mutation of the glucocorticoid receptor in primary cortisol resistance[J]. J Clin Invest, 1993, 91(5): 1918-1925.
18. 　Vottero A, Kino T, Combe H, et al. A novel, C-terminal dominant negative mutation of the GR causes familial glucocorticoid resistance through abnormal interactions with p160 steroid receptor coactivators[J]. Clin Endocrinol Metab, 2002, 87(6): 2658-2667.
19. 　Ruiz M, Lind U, Gåfvels M, et al. Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance[J]. Clin Endocrinol (Oxf), 2001, 55(3): 363-371.
20. 　Karl M, Lamberts SW, Koper JW, et al. Cushing’s disease preceded by generalized glucocorticoid resistance: clinical consequences of a novel, dominant-negative glucocorticoid receptor mutation[J]. Proc Assoc Am Physicians, 1996, 108(4): 296-307.
21. 　Kino T, Stauber RH, Resau JH, et al. Pathologic human GR mutant has a transdominant negative effect on the wild-type GR by inhibiting its translocation into the nucleus: importance of the ligand-binding domain for intracellular GR trafficking[J]. J Clin Endocrinol Metab, 2001, 86(11): 5600-5608.
22. 　趙峰, 蔡累, 遆新宇, 等. 糖皮質激素受體基因R477H多態性與激素抵抗型哮喘的相關性[J]. 臨床肺科雜志, 2009, 14(5): 597-599.
23. 　趙峰, 劉穎格, 遆新宇, 等. 糖皮質激素受體基因D641V多態性與激素抵抗型哮喘的相關性[C]//中國生理學會第23屆全國會員代表大會暨生理學學術大會論文摘要文集. 北京: 中國生理學會, 2010, 284.
24. 　趙峰, 遆新宇, 蔡累, 等. 糖皮質激素受體基因G679S多態性與激素抵抗型哮喘的相關性[J]. 第四軍醫大學學報, 2009, 30(6): 541-544.
25. 　Lee DK, Currie GP, Hall IP, et al. The arginine-16 beta2-adrenoceptor polymorphism predisposes to bronchoprotective subsensitivity in patients treated with formoterol and salmeterol[J]. Br J Clin Pharmacol, 2004, 57(1): 68-75.
26. 　Israel E, Chinchilli VM, Ford JG, et al. Use of regularly scheduled albuterol treatment in asthma: genotype-stratified, randomised, placebo-controlled cross-over trial[J]. Lancet, 2004, 364(9444): 1505-1512.
27. 　王雪峰. COPD患者β2腎上腺素受體基因多態性對福莫特羅支氣管擴張反應的影響[D]. 昆明: 昆明醫學院, 2008: 1-49.
28. 　Sampson AP, Siddiqui S, Buchanan D, et al. Variant LTC(4) synthase allele modifies cysteinyl leukotriene synthesis in eosinophils and predicts clinical response to zafirlukast[J]. Thorax, 2000, 55 (Suppl 2): S28-S31.
29. 　Fenech AG, Ebejer MJ, Felice AE, et al. Mutation screening of the muscarinic M(2) and M(3) receptor genes in normal and asthmatic subjects[J]. Br J Pharmacol, 2001, 133(1): 43-48.
30. 　Kwatra D, Vadlapatla RK, Vadlapudi AD, et al. Interaction of gatifloxacin with efflux transporters: a possible mechanism for drug resistance[J]. Int J Pharm, 2010, 395(1-2): 114-121.

West China Medical Journal

慢性阻塞性肺疾病個體化治療與藥物基因組學研究

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