Download or read book Genetic variants and metabolic diseases written by Kavita Jadhav and published by Frontiers Media SA. This book was released on 2023-03-29 with total page 122 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Genetic variants and metabolic diseases volume II written by Tarunveer Singh Ahluwalia and published by Frontiers Media SA. This book was released on 2024-02-12 with total page 155 pages. Available in PDF, EPUB and Kindle. Book excerpt: Metabolic syndrome (MetS) is a set of co-morbidities that collectively increase an individual’s risk of developing cardiovascular disease, stroke, and type 2 diabetes mellitus (T2D). Per the World Health Organization (WHO), MetS is typically characterized by obesity, insulin resistance, hypertension, and hyperlipidemia. Building on this point, some of the major risk factors for development of MetS include increased weight or an obese phenotype, lack of physical activity, and genetics. Interestingly, the last decade has witnessed a deluge of Genome-Wide Association Studies (GWAS) that have linked hundreds of genomic with both collective MetS traits, as well as individual metabolic disorders sitting within it. Currently, in the post-GWAS era, the focus has shifted to characterization of these novel genomic to establish causality and disease relevance. This is being pursued by way of functional validation such as gain- and loss-of-function studies, investigating resulting metabolic phenotypes, mechanisms and pathways underlying these phenotypes, their prevalence and potential for risk stratification across populations, and finally, identification of therapeutic targets for pharmacological intervention.

Download or read book Genetic Endocrinology of the Metabolic Syndrome written by Santiago Rodríguez and published by Nova Science Publishers. This book was released on 2009 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cardiovascular disease and mortality risk are significantly increased in people with metabolic syndrome, a cluster of interrelated metabolic disorders including obesity, insulin resistance, glucose intolerance, dyslipidemia and hypertension. A complex interplay between predisposing and protective factors ultimately determines whether an individual will develop this set of disorders or not. Genetic factors are one of the significant contributors that predispose to, or protect against, each component of the metabolic syndrome. As in other complex diseases and traits, such genetic factors are likely to be multiple and interacting, with individual polymorphisms producing only a moderate effect. The identification of genetic variants influencing the metabolic syndrome is of great importance to understanding pathogenesis, identifying groups of individuals with different relative risk, and developing or improving therapies against this cluster of metabolic disorders. This has greatly stimulated both theoretical and applied genetic research in recent years. A range of new analytical tools has been developed for the dissection of complex traits. Applied genetic analyses have identified large numbers of candidate markers and chromosomal regions (over 600 for obesity, which represents only one of the disorders of this cluster). In this chapter, the authors present a basic overview of the genetic approaches currently used for the identification of candidate genetic factors involved in the metabolic syndrome. The authors also summarise current evidence suggesting that genetic variants within elements of the endocrine system are directly involved in the risk of the metabolic syndrome. The authors focused their attention on endocrine pathways for which candidate genetic variants have been identified, and they introduced the foundations of a new hypothesis which postulates the involvement of a network of endocrine genetic setpoints as a combined contributor to the risk of the metabolic syndrome.

Download or read book Assessing the Genetic Architecture of Metabolic Diseases Using Candidate Gene and Genome wide Approach written by Kei-hang Katie Chan and published by . This book was released on 2012 with total page 154 pages. Available in PDF, EPUB and Kindle. Book excerpt: Much work has targeted the detection of disease genes through genetic mapping for metabolic diseases such as type 2 diabetes (T2D), cardiovascular diseases (CVD), and other diabetes-related traits such as body mass index (BMI) and hemoglobin (HbA1C) levels. However, the etiology of metabolic diseases remains partially understood hampering the development of more personalized diagnosis, treatment and prevention strategies. This dissertation examines the association between genetic variants with risk of metabolic diseases and diabetes-related quantitative traits in both candidate gene and genome-wide scan settings. In particular, we assessed the association of genetic loci related to adiposity, inflammation, and lipid storage, with the risk of diabetes using a candidate gene approach. We also investigated biological pathways that may give rise to the development of vascular disease (T2D and/or CVD) and also further investigated genetic variants related to BMI and HbA1C levels using a genome-wide approach. Chapter 1 introduces general background on the evolution of genetic research in the arena of metabolic diseases. Chapter 2 investigates common variants in the genomic region of FABP4, CRP, TNF, IL6 and PPARG in relation to diabetes risk among postmenopausal women enrolled in the Women's Health Initiative Observational Study (WHI-OS). Chapter 3 examines whether common variants involved in vascular disease risk are clustered in multiple pathways among African and Hispanic American participants in the WHI SNP Health Association Resource (SHARe) cohort. Chapter 4 examines the association between genetic variants with BMI and HbA1C levels using a family-based genome-wide association approach among participants in the Framingham Heart Study (FHS). Our main findings are: 1) Candidate gene-based studies indicate that variation exists across even the candidate gene regions. FABP4 genotypes were associated with reduced VCAM-1 levels, though none of the common genetic variants in the FABP4 gene examined were associated with risk of T2D. We also observed modest associations between TNF genetic variants and circulating concentrations of TNF-α-R2, although common variants of CRP, TNF, and IL6 genes were not associated with T2D risk. Using the example of the PPARG gene with T2D risk, however, we replicated the association between the PPARG Pro12Ala genetic variant with diabetes risk and found that haplotype-based analysis is more powerful than single-SNP analysis for identifying genetic variants. 2) Using a pathway-based analytical approach and genome-wide scan data collected among African and Hispanic American postmenopausal women, we observed that genetic variants associated with vascular disease appeared to cluster into several biological pathways including the glycerolipid metabolism and PPAR signaling pathways. 3) We found strong associations between SNPs near the LOC100507205 locus and BMI in the family-based Framingham Heart Study with three generations. We also replicated five well-validated genes that have been previously reported to be significantly associated with the BMI trait. These findings contribute to the growing body of literature in identifying genetic variants in the development of metabolic disease, further future work (e.g. in the area of structure and functional variants) are warranted to improve understanding of the genetic architecture for metabolic outcomes. Increasing integration of cutting edge genomic science into population-based epidemiologic investigation will accelerate and improve our understanding of the genetic susceptibility of complex diseases. The work described in this dissertation represents a tip of our effort toward the ultimate improvement of the diagnosis, treatment and prevention of metabolic diseases in human populations.

Download or read book Physiological Investigation of Causal Genetic Variants in Metabolic Disease written by Mahesh M. Umapathysivam and published by . This book was released on 2019 with total page 370 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Genetics of Complex Traits Diseases from Under Represented Populations written by Segun Fatumo and published by Frontiers Media SA. This book was released on 2022-02-22 with total page 123 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Cardiovascular Genomics written by Mohan K. Raizada and published by Springer Science & Business Media. This book was released on 2005-01-06 with total page 366 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this book/CD-ROM package, Raizada (physiology and functional genomics, University of Florida) brings together scientists and clinicians from around the world to explore recent molecular approaches to understanding the cardiovascular system in health and disease. Contributors cover disease states ranging from vascular and cardiac dysfunction to stroke and hypertension, and describe methods for identifying the genes that cause susceptibility to cardiovascular diseases. The CD-ROM contains an electronic version of the book that can be used on a PC or PDA. The audience for the book includes cardiovascular researchers, clinical fellows, and pharmacologists. Annotation : 2004 Book News, Inc., Portland, OR (booknews.com).

Download or read book Metabolic Diseases written by E. Gilbert-Barness and published by IOS Press. This book was released on 2017-01-06 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.

Download or read book Genetic and Metabolic Disease in Pediatrics written by June K. Lloyd and published by Butterworth-Heinemann. This book was released on 2014-04-24 with total page 335 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic and Metabolic Disease in Pediatrics is a compendium of papers that discusses the problems of inborn diseases in terms of homeostasis. One paper traces "backward" from the disease phenotype to discover and investigate the gene, as well as moves "forward" from mutation in DNA to discover phenotypes or proteins connected with the disease. Specific genes are assigned to particular places (loci) on chromosomes that can manifest the presence or type of disease. Another paper examines a classical disease—osteogenesis imperfecta—pointing out that the aberrant collagen of osteogenesis imperfecta reflects mutation at chromosomes 7 and 17. Another paper shows that in osteogenesis imperfecta, Mendelian phenotypes lead to genes and their products as being involved in critical aspects of protein traffic in human cells. Several papers examine the inborn errors of metabolism covering the lacticacidemias, urea synthesis, the hyperphenylalaninaemias, and the hyperlipidaemias. Other papers investigate the effects of metabolic dishomeostasis caused by variant maternal genotypes on fetal development, the "androgen pathway, its known Mendelian variants

Download or read book Double edged Swords Genetic Factors That Influence the Pathogenesis of Both Metabolic Disease and Cancer written by Che-Pei Kung and published by Frontiers Media SA. This book was released on 2019-09-23 with total page 130 pages. Available in PDF, EPUB and Kindle. Book excerpt: Metabolic diseases and cancers account for half of all mortalities in the world, underscoring the significance of understanding the etiology of these diseases and developing effective therapies. Genomic research in the 21st century has brought cancer and metabolic disease, two once seemingly parallel ailments, as close to each other as they’ve ever been. Many genetic factors have been found to display functions regulating both cancer and metabolic disease. In this research topic: "Double-edged Swords: Genetic Factors That Influence The Pathogenesis of Both MetabolicDisease and Cancer", you will be introduced to individual genes, as well as genetic pathways that play important roles in influencing the progression of both metabolic disease and cancer. By no means covering an exhaustive list of genes qualified, this collection of articles rather serves as a precursor of what is yet to come in biomedical research. It paints the big picture of one of the major fields contributing to the future of “precision medicine”.

Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.

Download or read book Genetic Variation written by Rafael Trindade Maia and published by BoD – Books on Demand. This book was released on 2021-05-19 with total page 298 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic diversity is one of the measures of biodiversity and has consequences in biological variation. It is crucial to understand the evolutionary and adaptative processes in all living species. This book is an interdisciplinary and integrated work that will contribute to the knowledge of academics from different areas of biological sciences. This collection of scientific papers was chosen and analyzed to offer readers a broad and integrated view of the importance of genetic diversity in the evolution and adaptation of living beings, as well as practical applications of the information needed to analyze this diversity in different organisms. This book was edited by geneticist researchers and provides academics with up-to-date and quality information on the subject.

Download or read book Inherited Metabolic Diseases written by Georg F. Hoffmann and published by Springer Science & Business Media. This book was released on 2009-11-21 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt: The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.

Download or read book Emery and Rimoin s Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Academic Press. This book was released on 2018-11-20 with total page 412 pages. Available in PDF, EPUB and Kindle. Book excerpt: For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world’s most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Clinical Principles and Applications thoroughly addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Additionally, new and updated chapters explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects. With regular advances in genomic technologies propelling precision medicine into the clinic, the seventh edition of Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers. Fully revised and up-to-date, this new edition introduces genetic researchers, students, and health professionals to general principles of genetic counseling, genetic and genomic diagnostics, treatment pathways, drug discovery, and the application of genomic technologies, analytics, and therapeutics in clinical practice Examines key topics and developing areas within clinical genomics, including genetic evaluation of patients, clinical trials and drug discovery, genetic health records, cytogenetic analysis, diagnostic molecular genetics, small molecule genetic therapeutics, gene product replacement, clinical teratology, transplantation genetics, and ethical and legal aspects of genomic medicine Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics

Download or read book Genes and Obesity written by and published by Academic Press. This book was released on 2010-12-17 with total page 417 pages. Available in PDF, EPUB and Kindle. Book excerpt: A number of genes have been identified that are associated with an increased body mass index (BMI), the standard measurement of obesity. By analyzing these genes, researchers hope to gain a better understanding of what causes obesity and develop ways to tackle the problem. The study of genes and obesity could lead to new treatments. Genes and Obesity reviews the latest developments in the field. This series provides a forum for discussion of new discoveries, approaches, and ideas Contributions from leading scholars and industry experts Reference guide for researchers involved in molecular biology and related fields

Download or read book The Science of Health Disparities Research written by Irene Dankwa-Mullan and published by John Wiley & Sons. This book was released on 2021-03-16 with total page 548 pages. Available in PDF, EPUB and Kindle. Book excerpt: Integrates the various disciplines of the science of health disparities in one comprehensive volume The Science of Health Disparities Research is an indispensable source of up-to-date information on clinical and translational health disparities science. Building upon the advances in health disparities research over the past decade, this authoritative volume informs policies and practices addressing the diseases, disorders, and gaps in health outcomes that are more prevalent in minority populations and socially disadvantaged communities. Contributions by recognized scholars and leaders in the field—featuring contemporary research, conceptual models, and a broad range of scientific perspectives—provide an interdisciplinary approach to reducing inequalities in population health, encouraging community engagement in the research process, and promoting social justice. In-depth chapters help readers better understand the specifics of minority health and health disparities while demonstrating the importance of advancing theory, refining measurement, improving investigative methods, and diversifying scientific research. In 26 chapters, the book examines topics including the etiology of health disparities research, the determinants of population health, research ethics, and research in African American, Asians, Latino, American Indian, and other vulnerable populations. Providing a unified framework on the principles and applications of the science of health disparities research, this important volume: Defines the field of health disparities science and suggests new directions in scholarship and research Explains basic definitions, principles, and concepts for identifying, understanding and addressing health disparities Provides guidance on both conducting health disparities research and translating the results Examines how social, historical and contemporary injustices may influence the health of racial and ethnic minorities Illustrates the increasing national and global importance of addressing health disparities Discusses population health training, capacity-building, and the transdisciplinary tools needed to advance health equity A significant contribution to the field, The Science of Health Disparities Research is an essential resource for students and basic and clinical researchers in genetics, population genetics, and public health, health care policymakers, and epidemiologists, medical students, and clinicians, particularly those working with minority, vulnerable, or underserved populations.

Download or read book Genetics Meets Metabolomics written by Karsten Suhre and published by Springer Science & Business Media. This book was released on 2012-06-15 with total page 328 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is written by leading researchers in the fields about the intersection of genetics and metabolomics which can lead to more comprehensive studies of inborn variation of metabolism.