Martha Sosa-Macías, Ingrid Fricke-Galindo, Humberto Fariñas, Lucero Monterde, Eugenia Dolores Ruiz-Cruz, Juan Molina-Guarneros, Eduardo Tarazona-Santos, Fernanda Rodrigues-Soares, Carlos Galaviz-Hernández, Eva Peñas-Lledó, Graciela Moya, Julio Lara-Riegos, Enrique Terán, Isabel Hernández, Ronald Ramírez-Roa, Catalina Altamirano-Tinoco, Marisol López-López, José Elías García-Ortiz, Adrián LLerena
The Ibero-American Network of Pharmacogenetics and Pharmacogenomics (RIBEF) studies Latin American populations to benefit from the implementation of personalized medicine. Since 2006, it has studied ethnicity to apply pharmacogenetics knowledge in autochthonous populations of Latin America, considering ancestral medicine. The meeting 'Pharmacogenetics: ethnicity, Treatment and Health in Latin American Populations' was held in Mexico City, Mexico, and presented the relevance of RIBEF collaboration with Latin American researchers and the governments of Mexico, Spain and the Autonomous Community of Extremadura. The results of 17 years of uninterrupted work by RIBEF, the Declaration of Mérida/T'Hó and the call for the Dr José María Cantú Award for studies focused on the pharmacogenetics of native populations in Latin America were presented.
{"title":"Pharmacogenetics: ethnicity, treatment and health in Latin American populations.","authors":"Martha Sosa-Macías, Ingrid Fricke-Galindo, Humberto Fariñas, Lucero Monterde, Eugenia Dolores Ruiz-Cruz, Juan Molina-Guarneros, Eduardo Tarazona-Santos, Fernanda Rodrigues-Soares, Carlos Galaviz-Hernández, Eva Peñas-Lledó, Graciela Moya, Julio Lara-Riegos, Enrique Terán, Isabel Hernández, Ronald Ramírez-Roa, Catalina Altamirano-Tinoco, Marisol López-López, José Elías García-Ortiz, Adrián LLerena","doi":"10.2217/pgs-2023-0098","DOIUrl":"https://doi.org/10.2217/pgs-2023-0098","url":null,"abstract":"<p><p>The Ibero-American Network of Pharmacogenetics and Pharmacogenomics (RIBEF) studies Latin American populations to benefit from the implementation of personalized medicine. Since 2006, it has studied ethnicity to apply pharmacogenetics knowledge in autochthonous populations of Latin America, considering ancestral medicine. The meeting 'Pharmacogenetics: ethnicity, Treatment and Health in Latin American Populations' was held in Mexico City, Mexico, and presented the relevance of RIBEF collaboration with Latin American researchers and the governments of Mexico, Spain and the Autonomous Community of Extremadura. The results of 17 years of uninterrupted work by RIBEF, the Declaration of Mérida/T'Hó and the call for the Dr José María Cantú Award for studies focused on the pharmacogenetics of native populations in Latin America were presented.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10011905","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The role of phenoconversion in the pharmacogenetics of psychiatric medication.","authors":"Martina Hahn, Sibylle C Roll","doi":"10.2217/pgs-2023-0100","DOIUrl":"https://doi.org/10.2217/pgs-2023-0100","url":null,"abstract":"","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10386185","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Pain is a common cause of hospitalization in sickle cell disease (SCD) patients. Failure to effectively control pain remains a challenge in patient care. Materials & methods: The authors conducted a cross-sectional study to determine the effect of CYP2D6 and UGT2B7 polymorphisms on pain management in 106 Zimbabwean SCD patients. Participant information was collected on a questionnaire. Genotyping was conducted using the GenoPharm® pharmacogenomics open array panel containing CYP2D6 and UGT genetic variants implicated in opioid response. Results: The reduced function alleles CYP2D6*17 and *29 had high frequencies of 15.9% and 12.9%, respectively. UGT2B7 rs73823859 showed a statistically significant correlation with pain levels (p = 0.0454). Conclusion: This study demonstrated the role of UGT2B7 polymorphism in SCD patient pain management.
{"title":"Pharmacogenetics of pain management in Zimbabwean patients with sickle cell disease.","authors":"Nyasha Lorraine Mapira, Roslyn Stella Thelingwani, Zedias Chikwambi, Patience Kuona, Collen Masimirembwa","doi":"10.2217/pgs-2023-0045","DOIUrl":"10.2217/pgs-2023-0045","url":null,"abstract":"<p><p><b>Background:</b> Pain is a common cause of hospitalization in sickle cell disease (SCD) patients. Failure to effectively control pain remains a challenge in patient care. <b>Materials & methods:</b> The authors conducted a cross-sectional study to determine the effect of <i>CYP2D6</i> and <i>UGT2B7</i> polymorphisms on pain management in 106 Zimbabwean SCD patients. Participant information was collected on a questionnaire. Genotyping was conducted using the GenoPharm<sup>®</sup> pharmacogenomics open array panel containing <i>CYP2D6</i> and <i>UGT</i> genetic variants implicated in opioid response. <b>Results:</b> The reduced function alleles <i>CYP2D6*17</i> and <i>*29</i> had high frequencies of 15.9% and 12.9%, respectively. <i>UGT2B7</i> rs73823859 showed a statistically significant correlation with pain levels (p = 0.0454). <b>Conclusion:</b> This study demonstrated the role of <i>UGT2B7</i> polymorphism in SCD patient pain management.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10318569/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9744856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abdullah Alsulaiman, Hoyin Chu, Mohammed Al-Jumaan, Mohammed Alyahya, Yousef Al Marzooq, Fatmah Almulhim, Chittibabu Vatte, Areej Alnimer, Afnan Almuhanna, Amein Al-Ali, Saud H AlDubayan
Aim: The indigenous Arab population is underrepresented in genomic studies and the landscape of actionable pharmacogenomic variants among Arab breast cancer patients remains unclear. Materials & methods: Exome sequencing was performed on 220 unselected Arab female breast cancer patients and germline variants in CYP2D6 and DPYD were profiled using a deep learning method. Results: In total, 13 (5.9%) patients had clinically actionable results and 56 (25.5%) carried an allele in DYPD or CYP2D6 with unknown impact on drug metabolism. In addition, four unique novel missense variants were discovered, including one in CYP2D6 (p.Arg64Leu) with high predicted pathogenicity. Conclusion: A nontrivial subset of Arab breast cancer patients can potentially benefit from pretreatment molecular profiling, and further study is needed to improve characterization of the pharmacogenomic landscape.
{"title":"Profiling of pharmacogenomic variants in <i>CYP2D6</i> and <i>DPYD</i> in indigenous Arab breast cancer patients.","authors":"Abdullah Alsulaiman, Hoyin Chu, Mohammed Al-Jumaan, Mohammed Alyahya, Yousef Al Marzooq, Fatmah Almulhim, Chittibabu Vatte, Areej Alnimer, Afnan Almuhanna, Amein Al-Ali, Saud H AlDubayan","doi":"10.2217/pgs-2023-0029","DOIUrl":"https://doi.org/10.2217/pgs-2023-0029","url":null,"abstract":"<p><p><b>Aim:</b> The indigenous Arab population is underrepresented in genomic studies and the landscape of actionable pharmacogenomic variants among Arab breast cancer patients remains unclear. <b>Materials & methods:</b> Exome sequencing was performed on 220 unselected Arab female breast cancer patients and germline variants in <i>CYP2D6</i> and <i>DPYD</i> were profiled using a deep learning method. <b>Results:</b> In total, 13 (5.9%) patients had clinically actionable results and 56 (25.5%) carried an allele in <i>DYPD</i> or <i>CYP2D6</i> with unknown impact on drug metabolism. In addition, four unique novel missense variants were discovered, including one in <i>CYP2D6</i> (p.Arg64Leu) with high predicted pathogenicity. <b>Conclusion:</b> A nontrivial subset of Arab breast cancer patients can potentially benefit from pretreatment molecular profiling, and further study is needed to improve characterization of the pharmacogenomic landscape.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9628709","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Aim: To assess the role of genetic polymorphisms in postoperative imatinib concentrations and edema in patients with gastrointestinal stromal tumor. Methods: The relationships between genetic polymorphisms, imatinib concentrations and edema were explored. Results: Carriers of the rs683369 G-allele and rs2231142 T-allele had significantly higher imatinib concentrations. Grade ≥2 periorbital edemas were related to the carriership of two C-alleles in rs2072454 with an adjusted odds ratio of 2.85, two T-alleles in rs1867351 with an adjusted odds ratio of 3.42 and two A-alleles in rs11636419 with an adjusted odds ratio of 3.15. Conclusion: rs683369 and rs2231142 affect the metabolism of imatinib; rs2072454, rs1867351 and rs11636419 are related to grade ≥2 periorbital edemas.
{"title":"Gene polymorphisms affect postoperative imatinib plasma levels and edema in adults with gastrointestinal stromal tumor.","authors":"Xuehui Jiang, Qun Fu, Ying Kong, Hong Liu, Kaisaner Rexiti, Hongwei Peng, Pin Xiao, Xiaohua Wei","doi":"10.2217/pgs-2022-0171","DOIUrl":"https://doi.org/10.2217/pgs-2022-0171","url":null,"abstract":"<p><p><b>Aim:</b> To assess the role of genetic polymorphisms in postoperative imatinib concentrations and edema in patients with gastrointestinal stromal tumor. <b>Methods:</b> The relationships between genetic polymorphisms, imatinib concentrations and edema were explored. <b>Results:</b> Carriers of the rs683369 G-allele and rs2231142 T-allele had significantly higher imatinib concentrations. Grade ≥2 periorbital edemas were related to the carriership of two C-alleles in rs2072454 with an adjusted odds ratio of 2.85, two T-alleles in rs1867351 with an adjusted odds ratio of 3.42 and two A-alleles in rs11636419 with an adjusted odds ratio of 3.15. <b>Conclusion:</b> rs683369 and rs2231142 affect the metabolism of imatinib; rs2072454, rs1867351 and rs11636419 are related to grade ≥2 periorbital edemas.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9640878","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-05-01Epub Date: 2023-05-24DOI: 10.2217/pgs-2023-0043
Khalifa Alrajeh, Ola AlAzzeh, Youssef Roman
Aim: The frequencies of SLCO1B1*5 and CYP2C9*2 and *3 in specific Asian, Native Hawaiian and Pacific Islander (NHPI) subgroups are unknown. Patients & methods: Repository DNA samples from 1064 women self-identifying as Filipino, Korean, Japanese, Native Hawaiian, Marshallese or Samoan and aged 18 years or older were used for targeted sequencing of three genetic variants (rs4149056, rs1799853 and rs1057910). Results:SLCO1B1*5 was significantly less frequent in NHPI women (0.5-6%) than in Europeans (16%). Except for Koreans, CYP2C9*2 (0-1.4%) and *3 (0.5-3%) were significantly less frequent in all subgroups than in Europeans (8 and 12.7%, respectively). Prior reports showed that Asian and NHPI individuals have significantly higher ABCG2 Q141K allele frequency (13-46%) than Europeans (9.4%). Combined phenotype rates for rosuvastatin and fluvastatin revealed that Filipinos and Koreans had the highest frequencies of statin-associated myopathy symptoms risk alleles. Conclusion: Differences in ABCG2, SLCO1B1 and CYP2C9 allele frequencies among different racial and ethnic subgroups highlight the need for increased diversity in pharmacogenetic research. Risk alleles for statin-associated myopathy symptoms are more prevalent in Filipinos, underscoring the importance of genotype-based statin dosing.
{"title":"The frequency of major <i>ABCG2</i>, <i>SLCO1B1</i> and <i>CYP2C9</i> variants in Asian, Native Hawaiian and Pacific Islander women subgroups: implications for personalized statins dosing.","authors":"Khalifa Alrajeh, Ola AlAzzeh, Youssef Roman","doi":"10.2217/pgs-2023-0043","DOIUrl":"10.2217/pgs-2023-0043","url":null,"abstract":"<p><p><b>Aim:</b> The frequencies of <i>SLCO1B1*5</i> and <i>CYP2C9*2</i> and <i>*3</i> in specific Asian, Native Hawaiian and Pacific Islander (NHPI) subgroups are unknown. <b>Patients & methods:</b> Repository DNA samples from 1064 women self-identifying as Filipino, Korean, Japanese, Native Hawaiian, Marshallese or Samoan and aged 18 years or older were used for targeted sequencing of three genetic variants (rs4149056, rs1799853 and rs1057910). <b>Results:</b> <i>SLCO1B1*5</i> was significantly less frequent in NHPI women (0.5-6%) than in Europeans (16%). Except for Koreans, <i>CYP2C9*2</i> (0-1.4%) and <i>*3</i> (0.5-3%) were significantly less frequent in all subgroups than in Europeans (8 and 12.7%, respectively). Prior reports showed that Asian and NHPI individuals have significantly higher <i>ABCG2</i> Q141K allele frequency (13-46%) than Europeans (9.4%). Combined phenotype rates for rosuvastatin and fluvastatin revealed that Filipinos and Koreans had the highest frequencies of statin-associated myopathy symptoms risk alleles. <b>Conclusion:</b> Differences in <i>ABCG2</i>, <i>SLCO1B1</i> and <i>CYP2C9</i> allele frequencies among different racial and ethnic subgroups highlight the need for increased diversity in pharmacogenetic research. Risk alleles for statin-associated myopathy symptoms are more prevalent in Filipinos, underscoring the importance of genotype-based statin dosing.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10242434/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9636991","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-05-01Epub Date: 2023-05-26DOI: 10.2217/pgs-2023-0056
Amanda Massmann, Joel Van Heukelom, Robert C Green, Catherine Hajek, Madison R Hickingbotham, Eric A Larson, Christine Y Lu, Ann Chen Wu, Emilie S Zoltick, Kurt D Christensen, April Schultz
Background:SLCO1B1 variants are known to be a strong predictor of statin-associated muscle symptoms (SAMS) risk with simvastatin. Methods: The authors conducted a retrospective chart review on 20,341 patients who had SLCO1B1 genotyping to quantify the uptake of clinical decision support (CDS) for genetic variants known to impact SAMS risk. Results: A total of 182 patients had 417 CDS alerts generated, and 150 of these patients (82.4%) received pharmacotherapy that did not increase risks for SAMS. Providers were more likely to cancel simvastatin orders in response to CDS alerts if genotyping had been done prior to the first simvastatin prescription than after (94.1% vs 28.5%, respectively; p < 0.001). Conclusion: CDS significantly reduces simvastatin prescribing at doses associated with SAMS.
{"title":"<i>SLCO1B1</i> gene-based clinical decision support reduces statin-associated muscle symptoms risk with simvastatin.","authors":"Amanda Massmann, Joel Van Heukelom, Robert C Green, Catherine Hajek, Madison R Hickingbotham, Eric A Larson, Christine Y Lu, Ann Chen Wu, Emilie S Zoltick, Kurt D Christensen, April Schultz","doi":"10.2217/pgs-2023-0056","DOIUrl":"10.2217/pgs-2023-0056","url":null,"abstract":"<p><p><b>Background:</b> <i>SLCO1B1</i> variants are known to be a strong predictor of statin-associated muscle symptoms (SAMS) risk with simvastatin. <b>Methods:</b> The authors conducted a retrospective chart review on 20,341 patients who had <i>SLCO1B1</i> genotyping to quantify the uptake of clinical decision support (CDS) for genetic variants known to impact SAMS risk. <b>Results:</b> A total of 182 patients had 417 CDS alerts generated, and 150 of these patients (82.4%) received pharmacotherapy that did not increase risks for SAMS. Providers were more likely to cancel simvastatin orders in response to CDS alerts if genotyping had been done prior to the first simvastatin prescription than after (94.1% vs 28.5%, respectively; p < 0.001). <b>Conclusion:</b> CDS significantly reduces simvastatin prescribing at doses associated with SAMS.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10242433/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9635084","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Clinical pharmacogenomics implementation in Thailand: a dream come true.","authors":"Chonlaphat Sukasem, Mohitosh Biswas, Palita Lungchukiet, Montinee Sangtian","doi":"10.2217/pgs-2023-0071","DOIUrl":"https://doi.org/10.2217/pgs-2023-0071","url":null,"abstract":"","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9915819","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Aims: To analyze the methylation level in the promoter region of SLC19A1 in adult acute lymphoblastic leukemia (ALL) patients, and explore the relationship between methotrexate (MTX) drug metabolism and SLC19A1 methylation. Methods: The methylation levels of the SLC19A1 promoter region in 52 adult ALL patients who received high-dose MTX chemotherapy were retrospectively analyzed in combination with clinical indicators and plasma MTX concentration. Results: Methylation levels of 17 CpG units were differently correlated with clinical parameters of ALL patients including gender, age, immunophenotype and Philadelphia chromosome status. Patients with delayed MTX drug excretion had higher methylation levels in the SLC19A1 promoter region. Conclusion: The methylation may affect the MTX plasma level and adverse reactions, which may predict patients at risk of adverse reactions after high-dose MTX therapy.
{"title":"Correlation between methylation level of the <i>SLC19A1</i> promoter region and methotrexate metabolism in adult acute lymphoblastic leukemia.","authors":"Xianqi Huang, Qishan Hao, Qiuyun Fang, Ping Zhang, Hui Wei, Ying Wang, Jianxiang Wang, Yingchang Mi","doi":"10.2217/pgs-2022-0169","DOIUrl":"https://doi.org/10.2217/pgs-2022-0169","url":null,"abstract":"<p><p><b>Aims:</b> To analyze the methylation level in the promoter region of <i>SLC19A1</i> in adult acute lymphoblastic leukemia (ALL) patients, and explore the relationship between methotrexate (MTX) drug metabolism and <i>SLC19A1</i> methylation. <b>Methods:</b> The methylation levels of the <i>SLC19A1</i> promoter region in 52 adult ALL patients who received high-dose MTX chemotherapy were retrospectively analyzed in combination with clinical indicators and plasma MTX concentration. <b>Results:</b> Methylation levels of 17 CpG units were differently correlated with clinical parameters of ALL patients including gender, age, immunophenotype and Philadelphia chromosome status. Patients with delayed MTX drug excretion had higher methylation levels in the <i>SLC19A1</i> promoter region. <b>Conclusion:</b> The methylation may affect the MTX plasma level and adverse reactions, which may predict patients at risk of adverse reactions after high-dose MTX therapy.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9441590","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-04-01Epub Date: 2023-03-31DOI: 10.2217/pgs-2022-0192
Joelle BouSaba, Kia Vosoughi, Saam Dilmaghani, Larry J Prokop, Michael Camilleri
Aim: To analyze roles of single nucleotide variants (SNVs) on weight loss with US FDA-approved medications. Materials & methods: We searched the literature up until November 2022. Preferred Reporting Items for Systematic reviews and Meta-Analyses guidelines were followed. Results: 14 studies were included in qualitative analysis and seven in meta-analysis. SNVs in CNR1, GLP-1R, MC4R, TCF7L2, CTRB1/2, ADIPOQ, SORCS1 and ANKK1 were evaluated relative to weight loss with glucagon-like peptide-1 agonists (13 studies) or naltrexone-bupropion (one study). CNR1 gene (rs1049353), GLP-1R gene (rs6923761, rs10305420), TCF7L2 gene (rs7903146) were associated with weight loss in at least one study involving glucagon-like peptide-1 agonist(s). The meta-analysis did not identify any consistent effect of SNVs. Conclusion: Pharmacogenetic interactions for exenatide, liraglutide, naltrexone-bupropion and weight loss were identified, but the directionality was inconsistent.
目的:分析单核苷酸变异(SNV)对美国 FDA 批准的减肥药物的作用。材料与方法:我们检索了截至 2022 年 11 月的文献。我们遵循了《系统综述和元分析首选报告项目》(Preferred Reporting Items for Systematic Review and Meta-Analyses)指南。结果14项研究被纳入定性分析,7项研究被纳入荟萃分析。评估了 CNR1、GLP-1R、MC4R、TCF7L2、CTRB1/2、ADIPOQ、SORCS1 和 ANKK1 中的 SNV 与胰高血糖素样肽-1 激动剂(13 项研究)或纳曲酮-安非他酮(1 项研究)治疗体重减轻的关系。在至少一项涉及胰高血糖素样肽-1 激动剂的研究中,CNR1 基因(rs1049353)、GLP-1R 基因(rs6923761、rs10305420)、TCF7L2 基因(rs7903146)与体重减轻有关。荟萃分析未发现 SNV 有任何一致的影响。结论发现了艾塞那肽、利拉鲁肽、纳曲酮-安非他酮与体重减轻的药物遗传学相互作用,但其方向性并不一致。
{"title":"Pharmacogenetic interactions of medications administered for weight loss in adults: a systematic review and meta-analysis.","authors":"Joelle BouSaba, Kia Vosoughi, Saam Dilmaghani, Larry J Prokop, Michael Camilleri","doi":"10.2217/pgs-2022-0192","DOIUrl":"10.2217/pgs-2022-0192","url":null,"abstract":"<p><p><b>Aim:</b> To analyze roles of single nucleotide variants (SNVs) on weight loss with US FDA-approved medications. <b>Materials & methods:</b> We searched the literature up until November 2022. Preferred Reporting Items for Systematic reviews and Meta-Analyses guidelines were followed. <b>Results:</b> 14 studies were included in qualitative analysis and seven in meta-analysis. SNVs in <i>CNR1</i>, <i>GLP-1R</i>, <i>MC4R</i>, <i>TCF7L2</i>, <i>CTRB1/2</i>, <i>ADIPOQ</i>, <i>SORCS1</i> and <i>ANKK1</i> were evaluated relative to weight loss with glucagon-like peptide-1 agonists (13 studies) or naltrexone-bupropion (one study). <i>CNR1</i> gene (rs1049353), <i>GLP-1R</i> gene (rs6923761, rs10305420), <i>TCF7L2</i> gene (rs7903146) were associated with weight loss in at least one study involving glucagon-like peptide-1 agonist(s). The meta-analysis did not identify any consistent effect of SNVs. <b>Conclusion:</b> Pharmacogenetic interactions for exenatide, liraglutide, naltrexone-bupropion and weight loss were identified, but the directionality was inconsistent.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10152409/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9441595","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}