Pub Date : 2020-03-31DOI: 10.2174/1875692117666190925115852
Reni Widyastuti, M. Louisa, I. Rinaldi, Riki Nova, Instiaty Instiaty, R. Priambodo
Imatinib mesylate is the first tyrosine kinase inhibitor approved for chronic myeloid leukemia (CML) therapy. Imatinib is an effective drug. However, previous studies have shown that about 20-30% of patients eventually would develop resistance to imatinib. Approximately 40% of imatinib resistance is associated with BCRABL kinase domain mutation. One of the most common and serious variations account for imatinib response is T315I of ABL1 gene. The study aimed to examine the association of T315I mutation with the ABL1 gene and its relation to major molecular response (MMR) achievement in CML patients. This study also examined other mutations adjacent to T315I, i.e., F311I, F317L, and different possible variations in the ABL1 gene. This was a cross-sectional study on Indonesian CML patients in chronic phase. We analyzed 120 blood samples from patients in chronic phase who have received imatinib mesylate (IM) for ≥12 months. There were no T315I, F311I, and F317L mutations found in this study. However, we found another variation, which was 36 substitutions from A to G at position 163816 of ABL1 gene (according to NG_012034.1). We found no T315I, F311I, and F317L mutations in this study. Our findings suggest that there might be other factors that influenced the MMR achievement in our study patients. However, there were 36 substitutions from A to G at position 163.816 (according to NG_012034.1) that needed further examination to explore the significance of this mutation in clinical practice.
{"title":"Mutation Analysis of ABL1 Gene and its Relation to the Achievement of Major Molecular Response in Indonesian Chronic Myeloid Leukemia Patients","authors":"Reni Widyastuti, M. Louisa, I. Rinaldi, Riki Nova, Instiaty Instiaty, R. Priambodo","doi":"10.2174/1875692117666190925115852","DOIUrl":"https://doi.org/10.2174/1875692117666190925115852","url":null,"abstract":"\u0000\u0000Imatinib mesylate is the first tyrosine kinase inhibitor approved\u0000for chronic myeloid leukemia (CML) therapy. Imatinib is an effective drug. However,\u0000previous studies have shown that about 20-30% of patients eventually would develop resistance\u0000to imatinib. Approximately 40% of imatinib resistance is associated with BCRABL\u0000kinase domain mutation. One of the most common and serious variations account for\u0000imatinib response is T315I of ABL1 gene.\u0000\u0000\u0000\u0000The study aimed to examine the association of T315I mutation with the ABL1\u0000gene and its relation to major molecular response (MMR) achievement in CML patients.\u0000This study also examined other mutations adjacent to T315I, i.e., F311I, F317L, and different\u0000possible variations in the ABL1 gene.\u0000\u0000\u0000\u0000This was a cross-sectional study on Indonesian CML patients in chronic phase.\u0000We analyzed 120 blood samples from patients in chronic phase who have received\u0000imatinib mesylate (IM) for ≥12 months.\u0000\u0000\u0000\u0000There were no T315I, F311I, and F317L mutations found in this study. However,\u0000we found another variation, which was 36 substitutions from A to G at position 163816 of\u0000ABL1 gene (according to NG_012034.1).\u0000\u0000\u0000\u0000 We found no T315I, F311I, and F317L mutations in this study. Our findings\u0000suggest that there might be other factors that influenced the MMR achievement in our\u0000study patients. However, there were 36 substitutions from A to G at position 163.816 (according\u0000to NG_012034.1) that needed further examination to explore the significance of\u0000this mutation in clinical practice.\u0000","PeriodicalId":11056,"journal":{"name":"Current Pharmacogenomics and Personalized Medicine","volume":"4 1","pages":"48-54"},"PeriodicalIF":0.0,"publicationDate":"2020-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75963805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-03-31DOI: 10.2174/1875692118666191223155350
V. Kothari
{"title":"Validation of Traditional Medicinal Practices Through Modern Scientific Approach: A Case for Reconsideration","authors":"V. Kothari","doi":"10.2174/1875692118666191223155350","DOIUrl":"https://doi.org/10.2174/1875692118666191223155350","url":null,"abstract":"<jats:sec>\u0000\u0000<jats:p />\u0000</jats:sec>","PeriodicalId":11056,"journal":{"name":"Current Pharmacogenomics and Personalized Medicine","volume":"56 1","pages":"11-13"},"PeriodicalIF":0.0,"publicationDate":"2020-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80870523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The purpose of the study was to analyze the association of allelic polymorphism of IL1В gene C>T loci -31 and +3953 with atherosclerotic changes of artries in patients with Metabolic Syndrome (MS). The main group of the study included 30 consecutive patients (24 women and 6 men, mean age - 51.7±2.2 years), for examination and treatment in the therapeutic Department of the Republican clinical hospital named "G. YA. Remishevskaya" (Abakan) about arterial hypertension or suspicion of type 2 diabetes. The criteria for inclusion in the core group included: compliance with the MS criteria according to the IDF criteria (2006); and the presence of ultrasound markers of Atherosclerosis (AS) according to the study of brachiocephalic arteries (presence of Atherosclerotic Plaques (ASP) and stenosis ≥30%). The control group included persons who underwent a planned medical examination in the Republican clinical hospital name "G. YA. Remishevskaya" (Abakan). A total of 35 patients (26 women and 9 men, mean age 44.7±1.5 years) were selected. The study involved the Russian population (Caucasians) living in the territory of the Republic of Khakassia. All the necessary examination and data collection were conducted including anamnestic data, anthropometric examination (measurements of length and body mass, waist circumference) body mass index, laboratory examination of blood biochemical parameters (glucose and lipid) and instrumental examination (blood pressure measurement, conducting ECG and ultrasound the brachiocephalic arteries). Single-nucleotide polymorphisms (SNP) of the promoter region of the IL1B gene at position-31C/T (rs1143627) and polymorphism in the coding part of the gene in exon 5 +3953C/T (rs 1143634) were studied by restriction analysis of amplification products (RFLP analysis). The risk of development of AS in patients with MS may be higher in carriers of genotype TT (OR = 1,76; 95% CI: (0,96-3,24)) or T allele (OR = 1,44; 95% CI: (0,82- 2,53)) IL1В gene in the polymorphic locus of the T-31С and genotype CT (OR = 1,85; 95% CI: (0,92-3,37)) or T allele (OR = 1,35; 95% CI: (0,63-2,89)) IL1В gene in the polymorphic locus of C + 3953T. The most common combination of gene polymorphisms IL1В was haplotype (-31) ТC/(+3953)СС in both the groups surveyed (40.6% to 36.8%, respectively). Variant (-31)TT/(+3953)CT in the main group was found significantly more often (15.8%, at χ2= 4.92, at p=0.03) than in the control group (3.1 %). The value of the odds ratio in this case was 3.99 (95% CI: (1.08-14.79), which indicates the risk of AS development against the background of MS in carriers of combined genotype inheritance (-31)TT/(+3953) CT. The risk of development of AS in the background of MS is increased in carriers of combinations of SNPs (-31)TT/(+3953)CT IL1В gene responsible for hyperproduction of this cytokine. In this connection, further studies of the association of genes with MS and AS components should focus on intergenic interactions.
{"title":"Peculiaritie of Distribution of Polymorphic Variants of IL1Β Gene in Patients with Atherosclerosis and Metabolic Syndrome","authors":"Saranchina Yuliya Vladimirovna, Rossova N. Aleksandrovna, Khanarin Nikolaj Vladimirovich, Kilina Oksana Yurevna, Dutova Svetlana Vyacheslavovna, Kulakova Tatyana Sergeevna","doi":"10.2174/1875692117666190416150346","DOIUrl":"https://doi.org/10.2174/1875692117666190416150346","url":null,"abstract":"\u0000\u0000The purpose of the study was to analyze the association of allelic\u0000polymorphism of IL1В gene C>T loci -31 and +3953 with atherosclerotic changes of\u0000artries in patients with Metabolic Syndrome (MS).\u0000\u0000\u0000\u0000The main group of the study included 30 consecutive patients\u0000(24 women and 6 men, mean age - 51.7±2.2 years), for examination and treatment in the\u0000therapeutic Department of the Republican clinical hospital named \"G. YA. Remishevskaya\"\u0000(Abakan) about arterial hypertension or suspicion of type 2 diabetes. The criteria for inclusion\u0000in the core group included: compliance with the MS criteria according to the IDF criteria\u0000(2006); and the presence of ultrasound markers of Atherosclerosis (AS) according to\u0000the study of brachiocephalic arteries (presence of Atherosclerotic Plaques (ASP) and\u0000stenosis ≥30%). The control group included persons who underwent a planned medical\u0000examination in the Republican clinical hospital name \"G. YA. Remishevskaya\" (Abakan).\u0000A total of 35 patients (26 women and 9 men, mean age 44.7±1.5 years) were selected. The\u0000study involved the Russian population (Caucasians) living in the territory of the Republic\u0000of Khakassia. All the necessary examination and data collection were conducted including\u0000anamnestic data, anthropometric examination (measurements of length and body mass,\u0000waist circumference) body mass index, laboratory examination of blood biochemical parameters\u0000(glucose and lipid) and instrumental examination (blood pressure measurement,\u0000conducting ECG and ultrasound the brachiocephalic arteries). Single-nucleotide polymorphisms\u0000(SNP) of the promoter region of the IL1B gene at position-31C/T (rs1143627) and\u0000polymorphism in the coding part of the gene in exon 5 +3953C/T (rs 1143634) were studied\u0000by restriction analysis of amplification products (RFLP analysis).\u0000\u0000\u0000\u0000The risk of development of AS in patients with MS may be higher in carriers of\u0000genotype TT (OR = 1,76; 95% CI: (0,96-3,24)) or T allele (OR = 1,44; 95% CI: (0,82-\u00002,53)) IL1В gene in the polymorphic locus of the T-31С and genotype CT (OR = 1,85;\u000095% CI: (0,92-3,37)) or T allele (OR = 1,35; 95% CI: (0,63-2,89)) IL1В gene in the\u0000polymorphic locus of C + 3953T. The most common combination of gene polymorphisms\u0000IL1В was haplotype (-31) ТC/(+3953)СС in both the groups surveyed (40.6% to 36.8%,\u0000respectively). Variant (-31)TT/(+3953)CT in the main group was found significantly more\u0000often (15.8%, at χ2= 4.92, at p=0.03) than in the control group (3.1 %). The value of the\u0000odds ratio in this case was 3.99 (95% CI: (1.08-14.79), which indicates the risk of AS development\u0000against the background of MS in carriers of combined genotype inheritance\u0000(-31)TT/(+3953) CT.\u0000\u0000\u0000\u0000The risk of development of AS in the background of MS is increased in\u0000carriers of combinations of SNPs (-31)TT/(+3953)CT IL1В gene responsible for hyperproduction\u0000of this cytokine. In this connection, further studies of the association of genes\u0000with MS and AS components should focus on intergenic interactions.\u0000","PeriodicalId":11056,"journal":{"name":"Current Pharmacogenomics and Personalized Medicine","volume":"26 1","pages":"32-39"},"PeriodicalIF":0.0,"publicationDate":"2020-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76024108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2020-03-31DOI: 10.2174/1875692117666190408113012
Seyyed Amir Yasin Ahmadi, R. Mohammadrezaei-Khorramabadi, S. Abbaszadeh, J. Rezaian, F. Shahsavar
Previously, the association of human leukocyte antigen (HLA)-B27 with ankylosing spondylitis has been investigated as original and meta-analysis studies. However, the association of HLA-B27 with rheumatoid arthritis is not currently investigated as a meta-analysis. Hence, in this letter, a brief meta-analysis on this association will be performed. Although there were some studies on the association of RA and HLA-B27, however, there was not a pooled odds ratio reported in textbooks. Based on this brief metaanalysis, number 2.687 can be reported as the odds ratio of this association. It shows that this association is neither sensitive nor specific, but can be an idea for pharmacogenomics and personalized medicine as a potential risk factor. Such other associations should be reported numerically and updated in textbooks.
{"title":"HLA-B27 is a Risk Factor for Rheumatoid Arthritis: Suggestion for an Evidence-based Update","authors":"Seyyed Amir Yasin Ahmadi, R. Mohammadrezaei-Khorramabadi, S. Abbaszadeh, J. Rezaian, F. Shahsavar","doi":"10.2174/1875692117666190408113012","DOIUrl":"https://doi.org/10.2174/1875692117666190408113012","url":null,"abstract":"\u0000\u0000Previously, the association of human leukocyte antigen (HLA)-B27 with ankylosing\u0000spondylitis has been investigated as original and meta-analysis studies. However,\u0000the association of HLA-B27 with rheumatoid arthritis is not currently investigated as a\u0000meta-analysis. Hence, in this letter, a brief meta-analysis on this association will be performed.\u0000Although there were some studies on the association of RA and HLA-B27, however,\u0000there was not a pooled odds ratio reported in textbooks. Based on this brief metaanalysis,\u0000number 2.687 can be reported as the odds ratio of this association. It shows that\u0000this association is neither sensitive nor specific, but can be an idea for pharmacogenomics\u0000and personalized medicine as a potential risk factor. Such other associations should be reported\u0000numerically and updated in textbooks.\u0000","PeriodicalId":11056,"journal":{"name":"Current Pharmacogenomics and Personalized Medicine","volume":"321 1","pages":"7-10"},"PeriodicalIF":0.0,"publicationDate":"2020-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80257867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-01-24DOI: 10.2174/1875692117666181207120751
Firoozeh Alavian
{"title":"Drug Abuse Treatment through Gene Manipulation Using Nanomedicine","authors":"Firoozeh Alavian","doi":"10.2174/1875692117666181207120751","DOIUrl":"https://doi.org/10.2174/1875692117666181207120751","url":null,"abstract":"","PeriodicalId":11056,"journal":{"name":"Current Pharmacogenomics and Personalized Medicine","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"78833592","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-01-24DOI: 10.2174/1875692117666181207121639
S. Rahman, T. Ahsan, Riajul Hossain, Tasnim Ahmed, A. Sajib
{"title":"Molecular Mechanism of Metformin Associated Lactic Acidosis (MALA)- an In Silico Exploration","authors":"S. Rahman, T. Ahsan, Riajul Hossain, Tasnim Ahmed, A. Sajib","doi":"10.2174/1875692117666181207121639","DOIUrl":"https://doi.org/10.2174/1875692117666181207121639","url":null,"abstract":"","PeriodicalId":11056,"journal":{"name":"Current Pharmacogenomics and Personalized Medicine","volume":"76 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86740875","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-01-24DOI: 10.2174/1875692117666181227112119
R. Munshi, Falguni H. Panchal, A. Chaurasia, G. Rajadhyaksha
{"title":"Association between Paraoxonase 1(PON1) Gene Polymorphisms and PON1 Enzyme Activity in Indian Patients with Coronary Artery Disease (CAD)","authors":"R. Munshi, Falguni H. Panchal, A. Chaurasia, G. Rajadhyaksha","doi":"10.2174/1875692117666181227112119","DOIUrl":"https://doi.org/10.2174/1875692117666181227112119","url":null,"abstract":"","PeriodicalId":11056,"journal":{"name":"Current Pharmacogenomics and Personalized Medicine","volume":"29 6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82735652","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-01-24DOI: 10.2174/1875692116666181108145230
N. M. Sekhar
{"title":"Computational Studies of Molecular Targets Regarding the Adverse Effects of Isoniazid Drug for Tuberculosis","authors":"N. M. Sekhar","doi":"10.2174/1875692116666181108145230","DOIUrl":"https://doi.org/10.2174/1875692116666181108145230","url":null,"abstract":"","PeriodicalId":11056,"journal":{"name":"Current Pharmacogenomics and Personalized Medicine","volume":"4 3 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79409386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2019-01-24DOI: 10.2174/1875692117666181207120011
E. Anto, P. Roberts, C. Turpin, Wei Wang
{"title":"Oxidative Stress as a Key Signaling Pathway in Placental Angiogenesis Changes in Preeclampsia: Updates in Pathogenesis, Novel Biomarkers and Therapeutics","authors":"E. Anto, P. Roberts, C. Turpin, Wei Wang","doi":"10.2174/1875692117666181207120011","DOIUrl":"https://doi.org/10.2174/1875692117666181207120011","url":null,"abstract":"","PeriodicalId":11056,"journal":{"name":"Current Pharmacogenomics and Personalized Medicine","volume":"2 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73333451","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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