中国防痨杂志 ›› 2018, Vol. 40 ›› Issue (9): 993-998.doi: 10.3969/j.issn.1000-6621.2018.09.017
收稿日期:
2018-07-04
出版日期:
2018-09-10
发布日期:
2018-10-17
通信作者:
申阿东
E-mail:shenad16@hotmail.com
基金资助:
Received:
2018-07-04
Online:
2018-09-10
Published:
2018-10-17
Contact:
A-dong SHEN
E-mail:shenad16@hotmail.com
摘要:
结核病是由结核分枝杆菌感染引起的传染性疾病,主要依靠化学药物进行治疗。抗结核药物基因组学主要关注药物基因组学在抗结核治疗中的应用。抗结核药物基因组学领域研究的深入开展有助于为结核病的个体化治疗铺平道路。本综述主要介绍了目前国内外在抗结核药物基因组学领域包括人类基因组学的研究方法、药物基因组学与抗结核药物代谢、药物基因组学与抗结核药物致肝损伤,以及药物基因组学与结核分枝杆菌耐药的研究进展,并对抗结核药物基因组学面临的挑战进行了探讨。
申晨,申阿东. 抗结核药物基因组学研究进展[J]. 中国防痨杂志, 2018, 40(9): 993-998. doi: 10.3969/j.issn.1000-6621.2018.09.017
Chen SHEN,A-dong SHEN. Research progress on pharmacogenomics of anti-tuberculosis drugs[J]. Chinese Journal of Antituberculosis, 2018, 40(9): 993-998. doi: 10.3969/j.issn.1000-6621.2018.09.017
[1] | World Health Organization. Global tuberculosis report 2017. Geneva:World Health Organization, 2017. |
[2] |
Thorn CF, Klein TE, Altman RB . Pharmacogenomics and bioinformatics: PharmGKB. Pharmacogenomics, 2010,11(4):501-505.
doi: 10.2217/pgs.10.15 URL pmid: 3098752 |
[3] |
Devaleenal Daniel B, Ramachandran G, Swaminathan S . The challenges of pharmacokinetic variability of first-line anti-TB drugs. Expert Rev Clin Pharmacol, 2017,10(1):47-58.
doi: 10.1080/17512433.2017.1246179 URL pmid: 27724114 |
[4] |
Weiner M, Peloquin C, Burman W , et al. Effects of tuberculosis, race, and human gene SLCO1B1 polymorphisms on rifampin concentrations. Antimicrob Agents Chemother, 2010,54(10):4192-4200.
doi: 10.1128/AAC.00353-10 URL |
[5] |
Chigutsa E, Visser ME, Swart EC , et al. The SLCO1B1 rs4149032 polymorphism is highly prevalent in South Africans and is associated with reduced rifampin concentrations: dosing implications. Antimicrob Agents Chemother, 2011,55(9):4122-4127.
doi: 10.1128/AAC.01833-10 URL |
[6] |
WHO Guidelines Approved by the Guidelines Review Committee. WHO treatment guidelines for drug-resistant tuberculosis, 2016 update. Geneva: World Health Organization, 2016.
URL pmid: 27748093 |
[7] |
Kita T, Tanigawara Y, Chikazawa S , et al. N-Acetyltransferase2 genotype correlated with isoniazid acetylation in Japanese tuberculous patients. Biol Pharm Bull, 2001,24(5):544-549.
doi: 10.1248/bpb.24.544 URL |
[8] | Teixeira RL, Silva FP Jr, Silveira AR , et al. Sequence analysis of NAT2 gene in Brazilians: identification of undescribed single nucleotide polymorphisms and molecular modeling of the N-acetyltransferase 2 protein structure. Mutat Res, 2010,683(1/2):43-49. |
[9] |
Singla N, Gupta D, Birbian N , et al. Association of NAT2, GST and CYP2E1 polymorphisms and anti-tuberculosis drug-induced hepatotoxicity. Tuberculosis (Edinb), 2014,94(3):293-298.
doi: 10.1016/j.tube.2014.02.003 URL |
[10] |
Toure A, Cabral M, Niang A , et al. Prevention of isoniazid toxicity by NAT2 genotyping in Senegalese tuberculosis patients. Toxicol Rep, 2016,3:826-831.
doi: 10.1016/j.toxrep.2016.10.004 URL pmid: 28959610 |
[11] |
Shen C, Qi H, Sun L , et al. A 3’UTR polymorphism of IL-6R is associated with Chinese pediatric tuberculosis. Biomed Res Int, 2014,2014:483759.
doi: 10.1155/2014/483759 URL pmid: 3977562 |
[12] |
Aminkeng F, Ross CJ, Rassekh SR , et al. Higher frequency of genetic variants conferring increased risk for ADRs for commonly used drugs treating cancer, AIDS and tuberculosis in persons of African descent. Pharmacogenomics J, 2014,14(2):160-170.
doi: 10.1038/tpj.2013.13 URL |
[13] |
Petros Z, Lee MM, Takahashi A , et al. Genome-wide association and replication study of anti-tuberculosis drugs-induced liver toxicity. BMC Genomics, 2016,17(1):755.
doi: 10.1186/s12864-016-3078-3 URL pmid: 3222227671213 |
[14] |
Mokrousov I, Chernyaeva E, Vyazovaya A , et al. Next-Generation Sequencing of Mycobacterium tuberculosis. Emerg Infect Dis, 2016,22(6):1127-1129.
doi: 10.3201/eid2206.152051 URL pmid: 27191040 |
[15] |
Karczewski KJ, Daneshjou R, Altman RB . Chapter 7: pharmacogenomics. PLoS Comput Biol, 2012,8(12):e1002817.
doi: 10.1371/journal.pcbi.1002817 URL |
[16] |
Golka K, Selinski S . NAT2 Genotype and Isoniazid Medication in Children. EBioMedicine, 2016,11:11-12.
doi: 10.1016/j.ebiom.2016.08.040 URL pmid: 27591833 |
[17] |
Parkin DP, Vandenplas S, Botha FJ , et al. Trimodality of isoniazid elimination: phenotype and genotype in patients with tuberculosis. Am J Respir Crit Care Med, 1997,155(5):1717-1722.
doi: 10.1164/ajrccm.155.5.9154882 URL pmid: 9154882 |
[18] |
Kita T, Tanigawara Y, Chikazawa S , et al. N-Acetyltransferase2 genotype correlated with isoniazid acetylation in Japanese tuberculosis patients. Biol Pharm Bull, 2001,24(5):544-549.
doi: 10.1248/bpb.24.544 URL |
[19] |
Verhagen LM, Coenen M, López D ,et al. Full-gene sequencing analysis of NAT2 and its relationship with isoniazid pharmacokinetics in Venezuelan children with tuberculosis. Pharmacogenomics, 2014,15(3):285-296.
doi: 10.2217/pgs.13.230 URL |
[20] |
Hemanth Kumar AK, Ramesh K, Kannan T , et al. NAT2 gene polymorphisms and plasma isoniazid concentrations in tuberculosis patients in south India. Indian J Med Res, 2017,145(1):118-123.
doi: 10.4103/ijmr.IJMR_2013_15 URL |
[21] | Jung JA, Kim TE, Lee H , et al. A proposal for an individuali-zed pharmacogenetic-guided isoniazid dosage regimen for patients with tuberculosis. Drug Des Devel Ther, 2015,9:5433-5438. |
[22] |
Ji B, Truffot-Pernot C, Lacroix C , et al. Effectiveness of rifampin, rifabutin and rifapentine for preventive therapy of tuberculosis in mice. Am Rev Respir Dis, 1993,148(6 pt 1):1541-1546.
doi: 10.1164/ajrccm/148.6_Pt_1.1541 URL |
[23] |
Jayaram R, Gaonkar S, Kaur P , et al. Pharmacokinetics and pharmacodynamics of rifampin in an aerosol infection model of tuberculosis. Antimicrob Agents Chemother, 2003,47(7):2118-2124.
doi: 10.1128/AAC.47.7.2118-2124.2003 URL pmid: 161844 |
[24] |
Jeremiah K, Denti P, Chigutsa E , et al. Nutritional supplementation increases rifampin exposure among tuberculosis patients coinfected with HIV. Antimicrob Agents Chemother, 2014,58(6):3468-3474.
doi: 10.1128/AAC.02307-13 URL |
[25] |
Ramesh K, Hemanth Kumar AK, Kannan T , et al. SLCO1B1 gene polymorphisms do not influence plasma rifampicin concentrations in a south Indian population. Int J Tuberc Lung Dis, 2016,20(9):1231-1235.
doi: 10.5588/ijtld.15.1007 URL |
[26] |
Song SH, Chang HE, Jun SH , et al. Relationship between CES2 genetic variations and rifampicin metabolism. J Antimicrob Chemother, 2013,68(6):1281-1284.
doi: 10.1093/jac/dkt036 URL pmid: 3222223471941 |
[27] |
Fatiguso G, Allegra S, Calcagno A , et al. Ethambutol plasma and intracellular pharmacokinetics: A pharmacogenetic study. Int J Pharm, 2016,497(1/2):287-292.
doi: 10.1016/j.ijpharm.2015.11.044 URL pmid: 26642947 |
[28] |
Naidoo A, Ramsuran V, Chirehwa M , et al. Effect of genetic variation in UGT1A and ABCB1 on moxifloxacin pharmacokinetics in South African patients with tuberculosis. Pharmacogenomics, 2018,19(1):17-29.
doi: 10.2217/pgs-2017-0144 URL |
[29] |
Weiner M, Burman W, Luo CC , et al. Effects of rifampin and multidrug resistance gene polymorphism on concentrations of moxifloxacin. Antimicrob Agents Chemother, 2007,51(8):2861-2866.
doi: 10.1128/AAC.01621-06 URL pmid: 1932492 |
[30] | Weiner M, Gelfond J, Johnson-Pais TL , et al. Elevated plasma moxifloxacin concentrations and SLCO1B1 g.-11187G>A polymorphism in adults with pulmonary tuberculosis. Antimicrob Agents Chemother, 2018, 62(5). pii:e01802-17. |
[31] | Zilber LA, Bajdakova, Gardasjan AN . The prevention and treatment of isoniazid toxicity in the therapy of pulmonary tuberculosis 2. An assessment of the prophylactic effect of pyridoxine in low dosage. Bull World Health Organ, 1963,29:457-481. |
[32] |
Roy PD, Majumder M, Roy B . Pharmacogenomics of anti-TB drugs-related hepatotoxicity. Pharmacogenomics, 2008,9(3):311-321.
doi: 10.2217/14622416.9.3.311 URL pmid: 3222218303967 |
[33] | Lee SW, Chung LS, Huang HH , et al. NAT2 and CYP2E1 polymorphisms and susceptibility to first-line anti-tuberculosis drug-induced hepatitis. Int J Tuberc Lung Dis, 2010,14(5):622-626. |
[34] |
Cho HJ, Koh WJ, Ryu YJ , et al. Genetic polymorphisms of NAT2 and CYP2E1 associated with antituberculosis drug-induced hepatotoxicity in Korean patients with pulmonary tuberculosis. Tuberculosis, 2007,87(6):551-556.
doi: 10.1016/j.tube.2007.05.012 URL |
[35] | Stettner M, Steinberger D, Hartmann CJ , et al. Isoniazid-induced polyneuropathy in a tuberculosis patient implication for individual risk stratification with genotyping? Brain Behav, 2015,5:e00326. |
[36] |
Azuma J, Ohno M, Kubota R , et al. NAT2 genotype guided regimen reduces isoniazid-induced liver injury and early treatment failure in the 6-month four-drug standard treatment of tuberculosis: a randomized controlled trial for pharmaco-genetics-based therapy. Eur J Clin Pharmacol, 2013,69(5):1091-1101.
doi: 10.1007/s00228-012-1429-9 URL |
[37] |
Kubota R, Ohno M, Hasunuma T , et al. Dose-escalation study of isoniazid in healthy volunteers with the rapid acetylator genotype of arylamine N-acetyl transferase 2. Eur J Clin Pharmacol, 2007,63(10):927-933.
doi: 10.1007/s00228-007-0333-1 URL |
[38] |
Wang PY, Xie SY, Hao Q , et al. NAT2 polymorphisms and susceptibility to anti-tuberculosis drug-induced liver injury: a meta-analysis. Int J Tuberc Lung Dis, 2012,16(5):589-595.
doi: 10.5588/ijtld.11.0377 URL |
[39] | 张金玲, 朱学彬, 李世明 , 等. SLCO1B1/ABCB1基因多态性与抗结核药物性肝损伤的相关性分析. 中华疾病控制杂志, 2013,17(6):469-472. |
[40] | 向阳, 孙凤, 詹思延 . 抗结核药物致肝损害与CYP2E1基因多态性. 中国公共卫生, 2011,21(7):910-913. |
[41] |
武鑫, 刘春亮, 薛刚 , 等. 中国人细胞色素P450 2E1基因多态性与抗结核药物性肝损害关系的Meta分析. 中华临床医师杂志(电子版), 2017,11(7):1147-1152.
doi: 10.3877/cma.j.issn.1674-0785.2017.07.019 URL |
[42] |
Li C, Long J, Hu X , et al. GSTM1 and GSTT1 genetic polymorphisms and risk of anti-tuberculosis drug-induced hepatotoxicity: an updated meta-analysis. Eur J Clin Microbiol Infect Dis, 2013,32(7):859-868.
doi: 10.1007/s10096-013-1831-y URL |
[43] | 朱冬林, 席云, 吴雪琼 . GSTM1和GSTT1基因多态性与抗结核药物性肝损害的关系. 中国抗生素杂志, 2011,36(11):864-866. |
[44] |
Liu F, Jiao AX, Wu XR , et al. Impact of glutathione S-transferase M1 and T1 on anti-tuberculosis drug-induced hepatoto-xicity in Chinese pediatric patients, PLoS One, 2014,9(12):e115410.
doi: 10.1371/journal.pone.0115410 URL |
[45] | 祖丽娅·沙塔尔, 顾佳怡, 马晨晨 , 等. GSTM1、GSTT1基因多态性与抗结核药物所致肝损害的相关性分析. 新疆医科大学学报, 2017,40(6):762-766. |
[46] |
Zhang W, He YJ, Gan Z , et al. OATP1B1 polymorphism is a major determinant of serum bilirubin level but not associated with rifampicin-mediated bilirubin elevation. Clin Exp Pharmacol Physiol, 2007,34(12):1240-1244.
doi: 10.1111/cep.2007.34.issue-12 URL |
[47] |
Li LM, Chen L, Deng GH , et al. SLCO1B1*15 haplotype is associated with rifampin-induced liver injury. Mol Med Rep, 2012,6(1):75-82.
doi: 10.3892/mmr.2012.900 URL pmid: 22562052 |
[48] |
马艳, 尹韶华, 杜建 , 等. 383例耐药肺结核患者的相关危险因素分析, 结核病与肺部健康杂志, 2018,7(2):128-134.
doi: 10.3969/j.issn.2095-3755.2016.02.015 URL |
[49] |
Pasipanodya JG, Srivastava S, Gumbo T . Meta-analysis of clinical studies supports the pharmacokinetic variability hypothesis for acquired drug resistance and failure of antituberculosis therapy. Clin Infect Dis, 2012,55(2):169-177.
doi: 10.1093/cid/cis353 URL |
[50] |
Pontual Y, Pacheco VSS, Monteiro SP , et al. ABCB1 gene polymorphism associated with clinical factors can predict drug-resistant tuberculosis. Clin Sci (Lond), 2017,131(15):1831-1840.
doi: 10.1042/CS20170277 URL |
[51] |
Rodríguez-Castillo JA, Arce-Mendoza AY, Quintanilla-Siller A , et al. Possible association of rare polymorphism in the ABCB1 gene with rifampin and ethambutol drug-resistant tuberculosis. Tuberculosis (Edinb), 2015,95(5):532-537.
doi: 10.1016/j.tube.2015.04.004 URL |
[52] |
Mushiroda T, Yanai H, Yoshiyama T , et al. Development of a prediction system for anti-tuberculosis drug-induced liver injury in Japanese patients. Hum Genome Var, 2016,3:16014.
doi: 10.1038/hgv.2016.14 URL |
[53] |
Karczewski KJ, Daneshjou R, Altman RB . Chapter 7: pharmacogenomics. PLoS Comput Biol, 2012,8(12):e1002817.
doi: 10.1371/journal.pcbi.1002817 URL |
[54] |
Wasserman S, Meintjes G, Maartens G . Linezolid in the treatment of drug-resistant tuberculosis: the challenge of its narrow therapeutic index. Expert Rev Anti Infect Ther, 2016,14(10):901-915.
doi: 10.1080/14787210.2016.1225498 URL |
[55] | Bardien S, Human H, Harris T , et al. A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness. BMC Med Genet, 2009,10:2. |
[56] | 邓体瑛 . 抗结核药物研究进展. 中国新药与临床杂志, 2017,36(11):629-634. |
[1] | 孙晴, 黄海荣, 王桂荣. 贝达喹啉、氯法齐明和德拉马尼对常见致病性非结核分枝杆菌体外抑菌活性及耐药机制的研究进展[J]. 中国防痨杂志, 2020, 42(8): 880-884. |
[2] | 付亮, 邓国防. 实验室检测技术在肺结核活动性判断中的应用进展[J]. 中国防痨杂志, 2020, 42(6): 626-629. |
[3] | 向海滨,梁求真,李新霞,宋兴华. 巨噬细胞的抗结核纳米递药系统的应用进展[J]. 中国防痨杂志, 2020, 42(4): 398-403. |
[4] | 王雪迪,江锋,代倩兰,王京,王冬梅. 中西医联合与单纯西医治疗结核病所致药物性肝损伤的对比分析(2000—2019年文献复习)[J]. 中国防痨杂志, 2020, 42(2): 126-132. |
[5] | 宋艳华,高孟秋,李琦. 结核分枝杆菌对乙硫异烟胺/丙硫异烟胺耐药的机制及其增敏剂研究进展[J]. 中国防痨杂志, 2020, 42(2): 173-177. |
[6] | 唐亮, 鲍玉成, 张文龙. 抗结核药品对肠道菌群的改变及其对机体的影响[J]. 中国防痨杂志, 2020, 42(12): 1333-1338. |
[7] | 汤玉婷, 桑莹莹, 夏超. 中医适宜技术在结核病治疗中临床应用效果的研究进展[J]. 中国防痨杂志, 2020, 42(12): 1339-1342. |
[8] | 麦麦提艾力·阿卜杜热西提, 买尔旦·买买提. 化脓性脊柱炎的临床特征、鉴别诊断及治疗进展[J]. 中国防痨杂志, 2020, 42(12): 1343-1348. |
[9] | 刘原园, 初平, 韩书婧, 杨慧, 鲁洁. 结核分枝杆菌对德拉马尼的耐药机制研究进展[J]. 中国防痨杂志, 2020, 42(11): 1237-1242. |
[10] | 梁正敏, 王元智, 刘一朵, 周向梅. 抗原85复合物的致病机制及其在结核病疫苗研制中的应用进展[J]. 中国防痨杂志, 2020, 42(11): 1243-1249. |
[11] | 李婷婷, 刘欢庆, 杜巧盈. 中药治疗肺结核的用药规律及作用机制预测[J]. 中国防痨杂志, 2020, 42(10): 1115-1120. |
[12] | 李智,周惠,陈晓军,张丽杰,王森路,张慧,刘小秋. 基于数字技术的结核病患者管理方法研究进展[J]. 中国防痨杂志, 2019, 41(9): 1015-1020. |
[13] | 任哲雯,成君,徐彩红,张慧. 肺结核患者密切接触者潜伏性结核感染预防性治疗研究进展[J]. 中国防痨杂志, 2019, 41(9): 1021-1024. |
[14] | 陈晓凤,王秀华,聂菲菲. 肺结核患者关怀与支持干预研究进展[J]. 中国防痨杂志, 2019, 41(7): 775-778. |
[15] | 赵皎洁,陆宇. 抗结核药物药代动力学/药效学的研究及进展[J]. 中国防痨杂志, 2019, 41(6): 700-704. |
阅读次数 | ||||||
全文 |
|
|||||
摘要 |
|
|||||