Prevalence of NAT2 polymorphisms and phenotypes associated with the rate of isoniazid biotransformation among Yakutian and Russian tuberculosis patients
To assess the risk of insufficient response or adverse reactions to standard doses of anti-TB drugs, it was proposed to use pharmacogenetic testing of genes of enzymes that metabolize these drugs. Since the frequency of genotypes varies depending on patients’ ethnicity, it is necessary to conduct st...
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| Format: | Article in Journal/Newspaper |
| Language: | Russian |
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LLC "Izdatelstvo OKI"
2020
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| Online Access: | https://www.pharmacogenetics-pharmacogenomics.ru/jour/article/view/146 https://doi.org/10.24411/2588-0527-2019-10040 |
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ftjpharmacogenet:oai:oai.phgenomics.elpub.ru:article/146 |
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Pharmacogenetics and Pharmacogenomics (E-Journal) |
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Russian |
| topic |
русские isoniazid pharmacogenetics NAT2 yakutians russians изониазид фармакогенетика якуты |
| spellingShingle |
русские isoniazid pharmacogenetics NAT2 yakutians russians изониазид фармакогенетика якуты O. A. Suvorova A. F. Kravchenko N. S. Val N. M. Krasnova Ya. V. Chertovskikh Z. A. Rudykh E. A. Alekseeva O. L. Vasileva N. E. Evdokimova D. V. Ivashchenko D. A. Sychev О. А. Суворова А. Ф. Кравченко Н. С. Валь Н. М. Краснова Я. В. Чертовских З. А. Рудых Е. А. Алексеева О. Л. Васильева Н. Е. Евдокимова Д. В. Иващенко Д. А. Сычёв Prevalence of NAT2 polymorphisms and phenotypes associated with the rate of isoniazid biotransformation among Yakutian and Russian tuberculosis patients |
| topic_facet |
русские isoniazid pharmacogenetics NAT2 yakutians russians изониазид фармакогенетика якуты |
| description |
To assess the risk of insufficient response or adverse reactions to standard doses of anti-TB drugs, it was proposed to use pharmacogenetic testing of genes of enzymes that metabolize these drugs. Since the frequency of genotypes varies depending on patients’ ethnicity, it is necessary to conduct studies among ethnic groups. The aim of this study was to identify the types of N-acetyltransferase 2 (NAT2) polymorphisms and phenotypes and their prevalence among Yakutian tuberculosis patients, as well as to conduct a comparative analysis with Russian patients. In total 158 patients were examined using real-time PCR: 50 – Yakutians, 41 – Russians (Yakutia), 67 – Russians (Moscow region). Six NAT2 polymorphisms were identified (*5, *6, *7, *11, *12, *13). Significant differences in the distribution of NAT2*5, *11, *12 between Yakutians and Russians were found: these polymorphisms prevail among Russian patients. The frequency of rapid phenotype among Yakutians is higher compared to Russians. The data obtained can contribute to the improvement of the antituberculosis therapy effectiveness in Yakutian patients. Для выявления пациентов с риском неэффективности или нежелательных реакций на стандартные дозы противотуберкулёзных препаратов было предложено использование фармакогенетические исследования генов ферментов, метаболизирующих данные лекарственные средства. Так как частота генотипов варьируется в зависимости от этнической принадлежности пациентов, необходимо проведение исследований среди различных этнических групп. Целью данного исследования было выявить типы и распространённость полиморфизмов и фенотипов изониазид-метаболизирующего фермента NAT2 среди якутов, болеющих туберкулёзом, а также провести сравнительный анализ с русскими пациентами. Всего было прогенотипировано 158 пациентов: 50 были якутами, 41 – русскими, проживающими на территории Якутии, 67 – русскими, проживающими на территории Московской области. Было идентифицировано 6 полиморфизмов NAT2 (*5, *6, *7, *11, *12, *13). Обнаружены значимые отличия в ... |
| format |
Article in Journal/Newspaper |
| author |
O. A. Suvorova A. F. Kravchenko N. S. Val N. M. Krasnova Ya. V. Chertovskikh Z. A. Rudykh E. A. Alekseeva O. L. Vasileva N. E. Evdokimova D. V. Ivashchenko D. A. Sychev О. А. Суворова А. Ф. Кравченко Н. С. Валь Н. М. Краснова Я. В. Чертовских З. А. Рудых Е. А. Алексеева О. Л. Васильева Н. Е. Евдокимова Д. В. Иващенко Д. А. Сычёв |
| author_facet |
O. A. Suvorova A. F. Kravchenko N. S. Val N. M. Krasnova Ya. V. Chertovskikh Z. A. Rudykh E. A. Alekseeva O. L. Vasileva N. E. Evdokimova D. V. Ivashchenko D. A. Sychev О. А. Суворова А. Ф. Кравченко Н. С. Валь Н. М. Краснова Я. В. Чертовских З. А. Рудых Е. А. Алексеева О. Л. Васильева Н. Е. Евдокимова Д. В. Иващенко Д. А. Сычёв |
| author_sort |
O. A. Suvorova |
| title |
Prevalence of NAT2 polymorphisms and phenotypes associated with the rate of isoniazid biotransformation among Yakutian and Russian tuberculosis patients |
| title_short |
Prevalence of NAT2 polymorphisms and phenotypes associated with the rate of isoniazid biotransformation among Yakutian and Russian tuberculosis patients |
| title_full |
Prevalence of NAT2 polymorphisms and phenotypes associated with the rate of isoniazid biotransformation among Yakutian and Russian tuberculosis patients |
| title_fullStr |
Prevalence of NAT2 polymorphisms and phenotypes associated with the rate of isoniazid biotransformation among Yakutian and Russian tuberculosis patients |
| title_full_unstemmed |
Prevalence of NAT2 polymorphisms and phenotypes associated with the rate of isoniazid biotransformation among Yakutian and Russian tuberculosis patients |
| title_sort |
prevalence of nat2 polymorphisms and phenotypes associated with the rate of isoniazid biotransformation among yakutian and russian tuberculosis patients |
| publisher |
LLC "Izdatelstvo OKI" |
| publishDate |
2020 |
| url |
https://www.pharmacogenetics-pharmacogenomics.ru/jour/article/view/146 https://doi.org/10.24411/2588-0527-2019-10040 |
| genre |
Yakutia Якути* |
| genre_facet |
Yakutia Якути* |
| op_source |
Pharmacogenetics and Pharmacogenomics; № 1 (2019); 35-40 Фармакогенетика и фармакогеномика; № 1 (2019); 35-40 2588-0527 2686-8849 |
| op_relation |
https://www.pharmacogenetics-pharmacogenomics.ru/jour/article/view/146/146 Global tuberculosis report 2018. Geneva: World Health Organization; 2018. Licence: CC BY-NC-SA 3.0 IGO. Treatment of tuberculosis. World Heal. Organ. 2010. Matsumoto T, Ohno M, Azuma J. Future of pharmacogenetics-based therapy for tuberculosis. Pharmacogenomics. 2014;15:601–607. DOI:10.2217/pgs.14.38 Wang P, Pradhan K, Zhong X, Ma X. Isoniazid metabolism and hepatotoxicity. Acta Pharm. Sin. B. 2016;6(5):384-392. Cai Y, Yi JY, Zhou CH, Shen XZ. Pharmacogenetic Study of DrugMetabolising Enzyme Polymorphisms on the Risk of Anti-Tuberculosis Drug-Induced Liver Injury: A Meta-Analysis. PLoS One. 2012;7(10):1–8. Zhang M, et al. The association between the NAT2 genetic polymorphisms and risk of DILI during anti-TB treatment: a systematic review and meta-analysis. Br. J. Clin. Pharmacol. 2018;84(12):2747–2760. Mahto H, et al. Pharmacogenetic association between NAT2 gene polymorphisms and isoniazid induced hepatotoxicity: trial sequence metaanalysis as evidence. Biosci. Rep. 2018;39(1): BSR20180845. Wang PY, Xie SY, Hao Q, et al. Jiang. NAT2 polymorphisms and susceptibility to anti-tuberculosis drug-induced liver injury: A meta-analysis. Int. J. Tuberc. Lung Dis. 2012;16(5):589–595. Shi J, Xie M, Wang J, et al. Susceptibility of N-acetyltransferase 2 slow acetylators to antituberculosis drug-induced liver injury: a meta-analysis. Pharmacogenomics. 2015;16:2083–2097. Donald PR, et al. The Influence of Human N-Acetyltransferase Genotype on the Early Bactericidal Activity of Isoniazid. Clin. Infect. Dis. Publushed by Oxford Univ. Press. 2004;39(10): 1425–1430. Weiner M, et al. Low Isoniazid Concentrations and Outcome of Tuberculosis Treatment with Once-Weekly Isoniazid and Rifapentine. Am. J. Respir. Crit. Care Med. 2003;167:1341–1347. Kinzig-schippers M, et al. Should We Use N-Acetyltransferase Type 2 Genotyping To Personalize Isoniazid Doses? Society. 2005;49(5):1733–1738. Hasunuma T, Azuma J, Ohno M, et al. Dose-escalation study of isoniazid in healthy volunteers with the rapid acetylator genotype of arylamine N-acetyltransferase 2. Eur. J. Clin. Pharmacol. 2007;63(10):927–933. Azuma J, Ohno M, Kubota R. 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 pharmacogenetics-based therapy. Pharmacogenetics. 2013; 1091–1101. Zhu R, et al. The Pharmacogenetics of NAT2 Enzyme Maturation in Perinatally HIV Exposed Infants Receiving Isoniazid. J Clin Pharmacol. 2009;6(11):1249–1254. Jagodziński J, et al. Correlation of N-Acetyltransferase 2 Genotype with Isoniazid Acetylation in Polish Tuberculosis Patients. Biomed Res. Int. 2013;2013(Figure 1):1–5. Министерство здравоохранения Республики Саха (Якутия) ГБУ «Республиканский детский туберкулезный санаторий имени Т.П. Дмитриевой». Статистический отчет за 2018 год. Diallo I, Vangenot C, Sanchez-mazas A, et al. Variation in NAT2 acetylation phenotypes is associated with differences in food-producing subsistence modes and ecoregions in Africa. BMC Evol. Biol. 2015;1–20. Toure A, et al. Prevention of isoniazid toxicity by NAT2 genotyping in Senegalese tuberculosis patients. Toxicol. Reports. 2016;3:826–831. Mortensen HM, et al. Characterization of genetic variation and natural selection at the arylamine N-acetyltransferase genes in global human populations. Pharmacogenomics. 2015;12(11):1545–1558. Tang H, et al. Genetic Structure , Self-Identified Race. Ethnicity, and Confounding in Case-Control Association Studies. 2005;268–275. Sabbagh A, Darlu P, Crouau-roy B, Poloni ES. Arylamine N-Acetyltransferase 2 (NAT2) Genetic Diversity and Traditional Subsistence: A Worldwide Population Survey. PLoS One. 2011; 6(4):e18507. DOI:10.1371/journal.pone.0018507 Hein DW. N-acetyltransferase 2 genetic polymorphism : effects of carcinogen and haplotype on urinary bladder cancer risk. Oncogene. 2006;2:1649–1658. Kurose K, Sugiyama E, Saito Y. Population Differences in Major Functional Polymorphisms of Pharmacokinetics / pharmacodynamics-related Genes in Eastern Asians and Europeans : Implications in the Clinical Trials for Novel Drug Development. Drug metabolism and pharmacokinetics. 2012;27(1):1–18. Gra O, et al. Microarray-Based Detection of CYP1A1, CYP2C9, CYP2C19, CYP2D6, GSTT1, GSTM1, MTHFR, MTRR, NQO1, NAT2, HLA-DQA1, and AB0 Allele Frequencies in Native Russians. Genet. Test. Mol. Biomarkers. 2010;14(3):329–342. https://www.pharmacogenetics-pharmacogenomics.ru/jour/article/view/146 doi:10.24411/2588-0527-2019-10040 |
| op_rights |
Authors who publish with this journal agree to the following terms:Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access). Авторы, публикующие в данном журнале, соглашаются со следующим:Авторы сохраняют за собой авторские права на работу и предоставляют журналу право первой публикации работы на условиях лицензии Creative Commons Attribution License, которая позволяет другим распространять данную работу с обязательным сохранением ссылок на авторов оригинальной работы и оригинальную публикацию в этом журнале.Авторы сохраняют право заключать отдельные контрактные договорённости, касающиеся не-эксклюзивного распространения версии работы в опубликованном здесь виде (например, размещение ее в институтском хранилище, публикацию в книге), со ссылкой на ее оригинальную публикацию в этом журнале.Авторы имеют право размещать их работу в сети Интернет (например в институтском хранилище или персональном сайте) до и во время процесса рассмотрения ее данным журналом, так как это может привести к продуктивному обсуждению и большему количеству ссылок на данную работу (См. The Effect of Open Access). |
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CC-BY |
| op_doi |
https://doi.org/10.24411/2588-0527-2019-10040 https://doi.org/10.2217/pgs.14.38 https://doi.org/10.1371/journal.pone.0018507 |
| _version_ |
1766236107275501568 |
| spelling |
ftjpharmacogenet:oai:oai.phgenomics.elpub.ru:article/146 2023-05-15T18:45:08+02:00 Prevalence of NAT2 polymorphisms and phenotypes associated with the rate of isoniazid biotransformation among Yakutian and Russian tuberculosis patients Распространённость полиморфизмов гена NAT2, ассоциированных с изменением скорости биотрансформации изониазида, среди якутских и русских пациентов с туберкулёзом O. A. Suvorova A. F. Kravchenko N. S. Val N. M. Krasnova Ya. V. Chertovskikh Z. A. Rudykh E. A. Alekseeva O. L. Vasileva N. E. Evdokimova D. V. Ivashchenko D. A. Sychev О. А. Суворова А. Ф. Кравченко Н. С. Валь Н. М. Краснова Я. В. Чертовских З. А. Рудых Е. А. Алексеева О. Л. Васильева Н. Е. Евдокимова Д. В. Иващенко Д. А. Сычёв 2020-03-23 application/pdf https://www.pharmacogenetics-pharmacogenomics.ru/jour/article/view/146 https://doi.org/10.24411/2588-0527-2019-10040 rus rus LLC "Izdatelstvo OKI" https://www.pharmacogenetics-pharmacogenomics.ru/jour/article/view/146/146 Global tuberculosis report 2018. Geneva: World Health Organization; 2018. Licence: CC BY-NC-SA 3.0 IGO. Treatment of tuberculosis. World Heal. Organ. 2010. Matsumoto T, Ohno M, Azuma J. Future of pharmacogenetics-based therapy for tuberculosis. Pharmacogenomics. 2014;15:601–607. DOI:10.2217/pgs.14.38 Wang P, Pradhan K, Zhong X, Ma X. Isoniazid metabolism and hepatotoxicity. Acta Pharm. Sin. B. 2016;6(5):384-392. Cai Y, Yi JY, Zhou CH, Shen XZ. Pharmacogenetic Study of DrugMetabolising Enzyme Polymorphisms on the Risk of Anti-Tuberculosis Drug-Induced Liver Injury: A Meta-Analysis. PLoS One. 2012;7(10):1–8. Zhang M, et al. The association between the NAT2 genetic polymorphisms and risk of DILI during anti-TB treatment: a systematic review and meta-analysis. Br. J. Clin. Pharmacol. 2018;84(12):2747–2760. Mahto H, et al. Pharmacogenetic association between NAT2 gene polymorphisms and isoniazid induced hepatotoxicity: trial sequence metaanalysis as evidence. Biosci. Rep. 2018;39(1): BSR20180845. Wang PY, Xie SY, Hao Q, et al. Jiang. NAT2 polymorphisms and susceptibility to anti-tuberculosis drug-induced liver injury: A meta-analysis. Int. J. Tuberc. Lung Dis. 2012;16(5):589–595. Shi J, Xie M, Wang J, et al. Susceptibility of N-acetyltransferase 2 slow acetylators to antituberculosis drug-induced liver injury: a meta-analysis. Pharmacogenomics. 2015;16:2083–2097. Donald PR, et al. The Influence of Human N-Acetyltransferase Genotype on the Early Bactericidal Activity of Isoniazid. Clin. Infect. Dis. Publushed by Oxford Univ. Press. 2004;39(10): 1425–1430. Weiner M, et al. Low Isoniazid Concentrations and Outcome of Tuberculosis Treatment with Once-Weekly Isoniazid and Rifapentine. Am. J. Respir. Crit. Care Med. 2003;167:1341–1347. Kinzig-schippers M, et al. Should We Use N-Acetyltransferase Type 2 Genotyping To Personalize Isoniazid Doses? Society. 2005;49(5):1733–1738. Hasunuma T, Azuma J, Ohno M, et al. Dose-escalation study of isoniazid in healthy volunteers with the rapid acetylator genotype of arylamine N-acetyltransferase 2. Eur. J. Clin. Pharmacol. 2007;63(10):927–933. Azuma J, Ohno M, Kubota R. 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 pharmacogenetics-based therapy. Pharmacogenetics. 2013; 1091–1101. Zhu R, et al. The Pharmacogenetics of NAT2 Enzyme Maturation in Perinatally HIV Exposed Infants Receiving Isoniazid. J Clin Pharmacol. 2009;6(11):1249–1254. Jagodziński J, et al. Correlation of N-Acetyltransferase 2 Genotype with Isoniazid Acetylation in Polish Tuberculosis Patients. Biomed Res. Int. 2013;2013(Figure 1):1–5. Министерство здравоохранения Республики Саха (Якутия) ГБУ «Республиканский детский туберкулезный санаторий имени Т.П. Дмитриевой». Статистический отчет за 2018 год. Diallo I, Vangenot C, Sanchez-mazas A, et al. Variation in NAT2 acetylation phenotypes is associated with differences in food-producing subsistence modes and ecoregions in Africa. BMC Evol. Biol. 2015;1–20. Toure A, et al. Prevention of isoniazid toxicity by NAT2 genotyping in Senegalese tuberculosis patients. Toxicol. Reports. 2016;3:826–831. Mortensen HM, et al. Characterization of genetic variation and natural selection at the arylamine N-acetyltransferase genes in global human populations. Pharmacogenomics. 2015;12(11):1545–1558. Tang H, et al. Genetic Structure , Self-Identified Race. Ethnicity, and Confounding in Case-Control Association Studies. 2005;268–275. Sabbagh A, Darlu P, Crouau-roy B, Poloni ES. Arylamine N-Acetyltransferase 2 (NAT2) Genetic Diversity and Traditional Subsistence: A Worldwide Population Survey. PLoS One. 2011; 6(4):e18507. DOI:10.1371/journal.pone.0018507 Hein DW. N-acetyltransferase 2 genetic polymorphism : effects of carcinogen and haplotype on urinary bladder cancer risk. Oncogene. 2006;2:1649–1658. Kurose K, Sugiyama E, Saito Y. Population Differences in Major Functional Polymorphisms of Pharmacokinetics / pharmacodynamics-related Genes in Eastern Asians and Europeans : Implications in the Clinical Trials for Novel Drug Development. Drug metabolism and pharmacokinetics. 2012;27(1):1–18. Gra O, et al. Microarray-Based Detection of CYP1A1, CYP2C9, CYP2C19, CYP2D6, GSTT1, GSTM1, MTHFR, MTRR, NQO1, NAT2, HLA-DQA1, and AB0 Allele Frequencies in Native Russians. Genet. Test. Mol. Biomarkers. 2010;14(3):329–342. https://www.pharmacogenetics-pharmacogenomics.ru/jour/article/view/146 doi:10.24411/2588-0527-2019-10040 Authors who publish with this journal agree to the following terms:Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access). Авторы, публикующие в данном журнале, соглашаются со следующим:Авторы сохраняют за собой авторские права на работу и предоставляют журналу право первой публикации работы на условиях лицензии Creative Commons Attribution License, которая позволяет другим распространять данную работу с обязательным сохранением ссылок на авторов оригинальной работы и оригинальную публикацию в этом журнале.Авторы сохраняют право заключать отдельные контрактные договорённости, касающиеся не-эксклюзивного распространения версии работы в опубликованном здесь виде (например, размещение ее в институтском хранилище, публикацию в книге), со ссылкой на ее оригинальную публикацию в этом журнале.Авторы имеют право размещать их работу в сети Интернет (например в институтском хранилище или персональном сайте) до и во время процесса рассмотрения ее данным журналом, так как это может привести к продуктивному обсуждению и большему количеству ссылок на данную работу (См. The Effect of Open Access). CC-BY Pharmacogenetics and Pharmacogenomics; № 1 (2019); 35-40 Фармакогенетика и фармакогеномика; № 1 (2019); 35-40 2588-0527 2686-8849 русские isoniazid pharmacogenetics NAT2 yakutians russians изониазид фармакогенетика якуты info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion 2020 ftjpharmacogenet https://doi.org/10.24411/2588-0527-2019-10040 https://doi.org/10.2217/pgs.14.38 https://doi.org/10.1371/journal.pone.0018507 2022-09-13T09:43:45Z To assess the risk of insufficient response or adverse reactions to standard doses of anti-TB drugs, it was proposed to use pharmacogenetic testing of genes of enzymes that metabolize these drugs. Since the frequency of genotypes varies depending on patients’ ethnicity, it is necessary to conduct studies among ethnic groups. The aim of this study was to identify the types of N-acetyltransferase 2 (NAT2) polymorphisms and phenotypes and their prevalence among Yakutian tuberculosis patients, as well as to conduct a comparative analysis with Russian patients. In total 158 patients were examined using real-time PCR: 50 – Yakutians, 41 – Russians (Yakutia), 67 – Russians (Moscow region). Six NAT2 polymorphisms were identified (*5, *6, *7, *11, *12, *13). Significant differences in the distribution of NAT2*5, *11, *12 between Yakutians and Russians were found: these polymorphisms prevail among Russian patients. The frequency of rapid phenotype among Yakutians is higher compared to Russians. The data obtained can contribute to the improvement of the antituberculosis therapy effectiveness in Yakutian patients. Для выявления пациентов с риском неэффективности или нежелательных реакций на стандартные дозы противотуберкулёзных препаратов было предложено использование фармакогенетические исследования генов ферментов, метаболизирующих данные лекарственные средства. Так как частота генотипов варьируется в зависимости от этнической принадлежности пациентов, необходимо проведение исследований среди различных этнических групп. Целью данного исследования было выявить типы и распространённость полиморфизмов и фенотипов изониазид-метаболизирующего фермента NAT2 среди якутов, болеющих туберкулёзом, а также провести сравнительный анализ с русскими пациентами. Всего было прогенотипировано 158 пациентов: 50 были якутами, 41 – русскими, проживающими на территории Якутии, 67 – русскими, проживающими на территории Московской области. Было идентифицировано 6 полиморфизмов NAT2 (*5, *6, *7, *11, *12, *13). Обнаружены значимые отличия в ... Article in Journal/Newspaper Yakutia Якути* Pharmacogenetics and Pharmacogenomics (E-Journal) |