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Gene Polymorphisms of Immunosuppressants in Solid Organ Transplantation 实体器官移植中免疫抑制剂的基因多态性
Genetic Diversity and Disease Susceptibility Pub Date : 2018-10-17 DOI: 10.5772/INTECHOPEN.75717
Y. Ming, Meng Yu
{"title":"Gene Polymorphisms of Immunosuppressants in Solid Organ Transplantation","authors":"Y. Ming, Meng Yu","doi":"10.5772/INTECHOPEN.75717","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.75717","url":null,"abstract":"The rapid development of immunosuppressants (IS) has already improved the prognosis of recipients post solid organ transplantation (SOT) in the past decades. However, the individual difference in IS metabolism may lead to either rejection or drug toxicity, thus suggesting the importance of personalized therapy. Gene polymorphisms (GP) regarding metabolic enzymes and medication transporters of the IS consist the footstone for personalized therapy, which are the hotspots in recent years. However, although a great of efforts have been put into researching the association between GP and pharmacokinet - ics (PK) or pharmacodynamics (PD), controversial results still remained. The only consensus that has been reached is the use of GP-based IS therapy could help the recipients to reach target concentration faster with less dose adjustment. Whether the GP-based IS therapy could improve the clinical long-term outcome needs further confirmation. In our chapter, we would summarize the information associated with GP of IS, and discuss the potential impact of GP on clinical practice to provide new insights into guiding tailored therapy of IS in SOT.","PeriodicalId":435402,"journal":{"name":"Genetic Diversity and Disease Susceptibility","volume":"115 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115629861","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}
引用次数: 0
DNA Polymorphisms: DNA-Based Molecular Markers and Their Application in Medicine DNA多态性:基于DNA的分子标记及其在医学中的应用
Genetic Diversity and Disease Susceptibility Pub Date : 2018-10-17 DOI: 10.5772/INTECHOPEN.79517
Salwa Teama
{"title":"DNA Polymorphisms: DNA-Based Molecular Markers and Their Application in Medicine","authors":"Salwa Teama","doi":"10.5772/INTECHOPEN.79517","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.79517","url":null,"abstract":"DNA polymorphisms are the different DNA sequences among individuals, groups, or pop - ulations. Polymorphism at the DNA level includes a wide range of variations from single base pair change, many base pairs, and repeated sequences. Genomic variability can be pres - ent in many forms, including single nucleotide polymorphisms (SNPs), variable number of tandem repeats (VNTRs, e.g., mini- and microsatellites), transposable elements (e.g., Alu repeats), structural alterations, and copy number variations. Different forms of DNA poly morphisms can be tracked using a variety of techniques; some of these techniques include restriction fragment length polymorphisms (RFLPs) with Southern blots, polymerase chain reactions (PCRs), hybridization techniques using DNA microarray chips, and genome sequencing. During the last years, the recent advance of molecular technologies revealed new discoveries of DNA polymorphisms. DNA polymorphisms are endless, and more dis - coveries continue at a rapid rate. Mapping the human genome requires a set of genetic mark ers. DNA polymorphism serves as a genetic marker for its own location in the chromosome; thus, they are convenient for analysis and are often used as in molecular genetic studies.","PeriodicalId":435402,"journal":{"name":"Genetic Diversity and Disease Susceptibility","volume":"35 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134170811","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}
引用次数: 21
Pharmacogenetics of Cardiovascular Disease: Genetic Variation and Statin Intolerance 心血管疾病的药物遗传学:遗传变异和他汀类药物不耐受
Genetic Diversity and Disease Susceptibility Pub Date : 2018-10-17 DOI: 10.5772/INTECHOPEN.79518
J. Petrkova, M. Táborský, M. Petrek
{"title":"Pharmacogenetics of Cardiovascular Disease: Genetic Variation and Statin Intolerance","authors":"J. Petrkova, M. Táborský, M. Petrek","doi":"10.5772/INTECHOPEN.79518","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.79518","url":null,"abstract":"Statins are very effective for lowering low-density lipoprotein cholesterol for primary and secondary cardiovascular disease prevention. While statins are usually well toler-ated, individual response to statin therapy varies and intolerance, predominantly muscle symptoms, may appear in a significant proportion of patients. Besides clinical factors, variation in genes coding for proteins with drug transporting, immune or enzymatic function have been implicated in the pathogenesis of statin intolerance. In this review, we will characterise the candidate gene variants for development of statin intolerance, describe their population distribution and summarise current knowledge on their biological plausibility. Clinical relevance and current guidelines/recommendations will be also discussed.","PeriodicalId":435402,"journal":{"name":"Genetic Diversity and Disease Susceptibility","volume":"2 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131636305","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}
引用次数: 1
Polymorphisms 多态性
Genetic Diversity and Disease Susceptibility Pub Date : 2018-10-17 DOI: 10.5772/intechopen.76728
W. Sukhumsirichart
{"title":"Polymorphisms","authors":"W. Sukhumsirichart","doi":"10.5772/intechopen.76728","DOIUrl":"https://doi.org/10.5772/intechopen.76728","url":null,"abstract":"Polymorphism or variation in DNA sequence can affect individual phenotypes such as color of skin or eyes, susceptible to diseases, and respond to drug, vaccine, chemical, and pathogen. It occurs more often than mutations (frequency ≥ 1%). The common polymor - phism is single nucleotide polymorphism (SNP) which is a single base change in a DNA sequence that occurs most commonly in the human genome. SNPs have been used as molecular markers in a wide range of studies. Genome-wide association studies (GWAS) searches for SNPs that occur more frequently in person with a particular disease than in person without the disease and pinpoint genes or regions that may contribute to a risk of disease. This topic describes about polymorphisms, SNPs, GWAS, linkage disequilibrium (LD), minor allele frequency, haplotype, method for SNP genotyping, and application of SNPs and genome-wide association study in human diseases and drug development.","PeriodicalId":435402,"journal":{"name":"Genetic Diversity and Disease Susceptibility","volume":"156 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"123094996","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}
引用次数: 41
Immunopharmacogenomics in Cancer Management 免疫药物基因组学在癌症管理中的应用
Genetic Diversity and Disease Susceptibility Pub Date : 2018-10-17 DOI: 10.5772/INTECHOPEN.76934
Gizem Çalıbaşı-Koçal, Y. Baskın
{"title":"Immunopharmacogenomics in Cancer Management","authors":"Gizem Çalıbaşı-Koçal, Y. Baskın","doi":"10.5772/INTECHOPEN.76934","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.76934","url":null,"abstract":"With the unavoidable progress of genomics technologies, “one size fits all” strategy has switched to individual-specific treatment approaches. Hence pharmacogenomics-based personalized cancer medicine has emerged. Promising treatment option immunotherapy includes either “take the brakes off immune system (i.e., checkpoint blockade therapy) or the use of immune cells expanded in an in vitro tumor-free environment’’. Both options have been varied and included unpredictable results. Combination of cancer immunotherapy and pharmacogenomics applications may contribute to solve the complexity of outcome prediction and variations between individuals receiving the same immunotherapeutic treatment. To enhance the tumor immunity and determine cancer patients who response to immunotherapy, classification based on gene polymorphisms in key immunoregulatory molecules including antigen-presenting molecules, immunoglobulins and their receptors, cytokine/chemokines and their receptors, adhesion and costimulatory molecules, toll-like receptors, and intracellular signaling molecules plays a vital role in redirecting or modulating the function of immune cells. Therefore, polymorphisms in immunoregulatory molecules and their impact on immunotherapeutic outcome should be considered in cancer management.","PeriodicalId":435402,"journal":{"name":"Genetic Diversity and Disease Susceptibility","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131020032","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}
引用次数: 0
Toll-Like Receptors Gene Polymorphism and Susceptibility to Cancer Development
Genetic Diversity and Disease Susceptibility Pub Date : 2018-10-17 DOI: 10.5772/INTECHOPEN.78029
A. Semlali, Rawan Alnemari, Esraa Almalki, Reem Alrashed, M. Alanazi
{"title":"Toll-Like Receptors Gene Polymorphism and Susceptibility to Cancer Development","authors":"A. Semlali, Rawan Alnemari, Esraa Almalki, Reem Alrashed, M. Alanazi","doi":"10.5772/INTECHOPEN.78029","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.78029","url":null,"abstract":"Toll-like receptors (TLRs) play an important role in immune-surveillance and responses towards pathogenic and non-pathogenic microorganisms. They act as innate immune sensors against endogenous and exogenous danger signals by recognizing the pattern recognition molecules (DAMPs and PAMPs) and drive an adaptive immune response through their signaling pathways, which leads to NF-κB and IRF3 transactivation and induces different inflammatory cytokine genes. TLRs polymorphisms were investi gated in various cancer types studies. However, precious studies have reported that the Polymorphisms on TLR1-TLR10 cluster have been associated with increased risk of prostate cancer. However, it has known that TLRs genetic variation is associated with increased the susceptibility to gastric cancer. A same synthetically meta- analysis also confirmed the association of TLRs with increased the gastrointestinal cancer but with decreased prostate cancer risk. Our previous studies have demonstrated a strong link between TLRs polymorphisms and colon cancer and breast cancer in Saudi Arabia popu- lation. Similar studies were analyzed with Korean patients with papillary thyroid cancer and their clinic-pathologic features in age matched controls by using direct sequencing. The general objective of this chapter was to investigate the role of different TLRs (i.e., TLR2, TLR4, and TLR6) polymorphisms and their association with cancer development.","PeriodicalId":435402,"journal":{"name":"Genetic Diversity and Disease Susceptibility","volume":"12 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"124023120","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}
引用次数: 4
Developmental Genetics and Preimplantation Genetic Diagnosis 发育遗传学和胚胎植入前遗传学诊断
Genetic Diversity and Disease Susceptibility Pub Date : 2018-10-17 DOI: 10.5772/INTECHOPEN.77965
S. Chakrabarti, Nidhi Sharma
{"title":"Developmental Genetics and Preimplantation Genetic Diagnosis","authors":"S. Chakrabarti, Nidhi Sharma","doi":"10.5772/INTECHOPEN.77965","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.77965","url":null,"abstract":"The genetic code information programs the embryogenesis. In this chapter the three phases of prenatal development the pre-embryonic, the embryonic and the fetal are elaborated. The role played by transforming growth factor beta related genes in the growth and differentiation of early embryo will be described. The implications of Fibroblast growth factor gene in binding heparin its effect on cell survival and mitogenic pathways is discussed. The orchestrated symphony of Sonic Hedgehog genes in early human embryo development is elaborated. The Homeobox genes (Hox gene) and their role in early human embryogenesis are described. The different tests available for prenatal genetic testing are briefly described. Preimplantation genetic diagnostic procedures are indispensable in clin- ical embryology. The microsurgical techniques of the Polar body biopsy, Blastomere biopsy and Blastocyst biopsy are discussed at the end of the chapter. A diagrammatic representa- tion of individuals and relationships in clinical genetics is described. A brief description of procedures of invasive fetal tests for collecting the fetal tissue is also discussed.","PeriodicalId":435402,"journal":{"name":"Genetic Diversity and Disease Susceptibility","volume":"64 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133395820","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}
引用次数: 0
Genetic Diversity in Small Populations 小群体的遗传多样性
Genetic Diversity and Disease Susceptibility Pub Date : 2018-10-17 DOI: 10.5772/INTECHOPEN.76923
A. Linløkken
{"title":"Genetic Diversity in Small Populations","authors":"A. Linløkken","doi":"10.5772/INTECHOPEN.76923","DOIUrl":"https://doi.org/10.5772/INTECHOPEN.76923","url":null,"abstract":"The chapter focuses on animal populations of low genetic diversity, among which some have low population size and are, or have been, threatened by extinction. Genetic diversity is regarded as a must for a species to be able to adapt to environmental challenges, but despite this, several species, also among advanced animal groups like birds and mammals, seem to thrive well with low genetic diversity. Some species are assumed to have done so for thousands of years. Other species have low genetic diversity resulting from heavy bottleneck events, in some cases very close to extinction, caused by human activities. Although some species live with surprisingly low genetic diversity, being prone to further loss of genetic variation, this may be retarded due to sexual selection and fitness superi - ority of heterozygotes. Simulations with population size N = 25 showed that a homozygote fitness of 0.75 compared to fitness = 1.0 of the heterozygote resulted in exclusion of a p = 0.10 frequency allele in <10% of 50 simulation over 50 generations, whereas fitness 1.0 of all genotypes resulted in exclusion of the p = 0.10 allele in 78% of 50 simulations.","PeriodicalId":435402,"journal":{"name":"Genetic Diversity and Disease Susceptibility","volume":"16 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116037023","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}
引用次数: 5
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