慢性阻塞性肺疾病个体化治疗与药物基因组学研究_West China Medical Journal

Authors：

李兴明 ,  王宪刚

Corresponding author：

王宪刚, Email: wxg21cd@163.com

Keywords：

慢性阻塞性肺疾病; 个体化用药; 药物基因组学; 遗传多态性

Video：

Export PDF Favorites Scan Get Citation

Abstract Full text Figures/Tables Video References Cited by

随着分子生物学、分子遗传学与分子药理学，特别是药物基因组学的发展，人们逐渐认识到，不同个体对同一药物的不同反应，大多源于基因的差异。由此，在遗传药理学的基础上，发展形成了药物基因组学这一新学科，以分子和基因水平上的研究揭示个体对药物不同反应的机制，为科学合理用药开拓了新的思路和途径。现就慢性阻塞性肺疾病患者常用药物的药物基因组学与个体化治疗进行综述。

Citation： 李兴明,王宪刚. 慢性阻塞性肺疾病个体化治疗与药物基因组学研究. 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.	何权瀛. 中国慢性阻塞性肺疾病患者现状研究主要结果[J]. 中国医学论坛报, 2007, 9(33): 5.
3.	刘旭, 李明春, 纪松岗, 等. 基因多态性与临床合理用药[J]. 中国医药指南, 2012, 10(4): 75-77.
4.	成碟, 徐为人, 刘昌孝. 细胞色素P450(CYP450)遗传多态性研究进展[J]. 中国药理学通报, 2006, 22(12): 1409-1414.
5.	陈杰, 陈孝. 细胞色素P450基因多态性对药物疗效和安全性的影响[J]. 药品评价, 2010, 7(4): 58-62.
6.	王黎青, 陈小平, 胡哲益, 等. 中国人CYP1A2基因多态性与茶碱清除率的相关性研究[C]//第八次全国药物与化学异物代谢学术会议论文摘要. 大连: 中国药理学会药物代谢专业委员会, 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, 杨国平, 等. CYP2C19基因型与CYP3A4抑制药红霉素对伏立康唑药动学的影响[C]//中国药理学会第九次全国会员代表大会暨全国药理学术会议论文集. 北京: 中国药理学会, 2007: 135.
10.	娄小娥, 章辉, 吴美珍. 药物基因组学与个体化用药[J]. 中国医院药学杂志, 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.	赵峰, 蔡累, 遆新宇, 等. 糖皮质激素受体基因R477H多态性与激素抵抗型哮喘的相关性[J]. 临床肺科杂志, 2009, 14(5): 597-599.
23.	赵峰, 刘颖格, 遆新宇, 等. 糖皮质激素受体基因D641V多态性与激素抵抗型哮喘的相关性[C]//中国生理学会第23届全国会员代表大会暨生理学学术大会论文摘要文集. 北京: 中国生理学会, 2010, 284.
24.	赵峰, 遆新宇, 蔡累, 等. 糖皮质激素受体基因G679S多态性与激素抵抗型哮喘的相关性[J]. 第四军医大学学报, 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肾上腺素受体基因多态性对福莫特罗支气管扩张反应的影响[D]. 昆明: 昆明医学院, 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. 　何权瀛. 中国慢性阻塞性肺疾病患者现状研究主要结果[J]. 中国医学论坛报, 2007, 9(33): 5.
3. 　刘旭, 李明春, 纪松岗, 等. 基因多态性与临床合理用药[J]. 中国医药指南, 2012, 10(4): 75-77.
4. 　成碟, 徐为人, 刘昌孝. 细胞色素P450(CYP450)遗传多态性研究进展[J]. 中国药理学通报, 2006, 22(12): 1409-1414.
5. 　陈杰, 陈孝. 细胞色素P450基因多态性对药物疗效和安全性的影响[J]. 药品评价, 2010, 7(4): 58-62.
6. 　王黎青, 陈小平, 胡哲益, 等. 中国人CYP1A2基因多态性与茶碱清除率的相关性研究[C]//第八次全国药物与化学异物代谢学术会议论文摘要. 大连: 中国药理学会药物代谢专业委员会, 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, 杨国平, 等. CYP2C19基因型与CYP3A4抑制药红霉素对伏立康唑药动学的影响[C]//中国药理学会第九次全国会员代表大会暨全国药理学术会议论文集. 北京: 中国药理学会, 2007: 135.
10. 　娄小娥, 章辉, 吴美珍. 药物基因组学与个体化用药[J]. 中国医院药学杂志, 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. 　赵峰, 蔡累, 遆新宇, 等. 糖皮质激素受体基因R477H多态性与激素抵抗型哮喘的相关性[J]. 临床肺科杂志, 2009, 14(5): 597-599.
23. 　赵峰, 刘颖格, 遆新宇, 等. 糖皮质激素受体基因D641V多态性与激素抵抗型哮喘的相关性[C]//中国生理学会第23届全国会员代表大会暨生理学学术大会论文摘要文集. 北京: 中国生理学会, 2010, 284.
24. 　赵峰, 遆新宇, 蔡累, 等. 糖皮质激素受体基因G679S多态性与激素抵抗型哮喘的相关性[J]. 第四军医大学学报, 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肾上腺素受体基因多态性对福莫特罗支气管扩张反应的影响[D]. 昆明: 昆明医学院, 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

慢性阻塞性肺疾病个体化治疗与药物基因组学研究

Abstract Full text Figures/Tables Video References Cited by

Format

Content