Genetic variants and metabolic diseases PDF Download

Author: Kavita Jadhav
Publisher: Frontiers Media SA
ISBN: 2832519202
Category : Medical
Languages : en
Pages : 122

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Author: Tarunveer Singh Ahluwalia
Publisher: Frontiers Media SA
ISBN: 2832544673
Category : Medical
Languages : en
Pages : 155

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Book Description
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.

Author: Santiago Rodríguez
Publisher: Nova Science Publishers
ISBN: 9781606921685
Category : Metabolic syndrome
Languages : en
Pages : 0

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Book Description
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.

Author: Rafael Trindade Maia
Publisher: BoD – Books on Demand
ISBN: 183881096X
Category : Medical
Languages : en
Pages : 298

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Book Description
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.

Author: Kei-hang Katie Chan
Publisher:
ISBN:
Category :
Languages : en
Pages : 154

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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.

Author: Mohan K. Raizada
Publisher: Springer Science & Business Media
ISBN: 1588294005
Category : Medical
Languages : en
Pages : 366

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Book Description
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).

Author: E. Gilbert-Barness
Publisher: IOS Press
ISBN: 1614997187
Category : Medical
Languages : en
Pages : 960

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Book Description
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.

Author: Mahesh M. Umapathysivam
Publisher:
ISBN:
Category :
Languages : en
Pages : 370

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Author: Segun Fatumo
Publisher: Frontiers Media SA
ISBN: 2889744647
Category : Science
Languages : en
Pages : 123

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Author: June K. Lloyd
Publisher: Butterworth-Heinemann
ISBN: 1483161013
Category : Medical
Languages : en
Pages : 335

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Book Description
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