Genetic Polymorphism and Disease

Genetic polymorphisms are important determinants of phenotypic variations and may modulate the risk to or even cause various diseases including genetic disorders and multifactorial diseases. Genetic polymorphisms also serve as important genetic, population and evolutionary markers that allow the study of genetic and evolutionary aspects of individuals, populations and organisms and aid in tracing the evolutionary and parental lineages. Genetic polymorphisms in low penetrance genes are responsible for the alterations in the gene expression of critical signal transduction proteins and metabolic enzymes. Some of these polymorphisms are linked to increased susceptibility to various diseases especially cancers, cardiovascular diseases, immune disorders, neurological pathologies. This book collates the reviews on the roles played by polymorphisms in critical metabolic, signal transduction, cell cycle or DNA repair genes either directly or indirectly in the disease mechanisms. The focus is on various techniques for identifying the various Single Nucleotide Polymorphisms (SNPs). Polymorphism studies document the affect SNPs, and their expressions have upon the functionality of the enzymes, proteins.

Key Features

• Describes the genetic polymorphism and its various types
• Discusses the role of genetic polymorphisms in modulating the risk of various human diseases
• Explores various molecular techniques used for detecting GPs
• Characterizes the role of SNPs in modulating the susceptibility of human diseases
• Provides a genetic basis for individual variations in response to therapeutics

Dr. Syed Sameer Aga is currently working as an Assistant Professor of Biochemistry in the Department of Basic Medical Sciences, College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia. He is also serving as the Chairman of the Quality Assurance Unit in College of Medicine, KSAU-HS. Dr. Syed is a life-time member of many societies related to genetics, molecular biology and medical education like the Royal Society of Biology, Biochemical Society, Association of Clinical Biochemists of India, Society of Indian Academy of Medical Genetics, Middle East Molecular Biology Sources, Asian Council of Science Editors, and Saudi Society of Medical Education, etc. He is also serving as the Associate Editor in five Journals, Frontiers in Oncology – Molecular Biosciences section, BioMed Research International, Education Research International, World Journal of Biological Chemistry and Current Drug Metabolism. He also serves as a full time reviewer for various journals including European Journal of Cancer Prevention (Lippincott Williams & Wilkins), PLOS One & PLOS Genetics (Public Library of Science), World Journal of Gastroenterology (Baishideng Publishing), BMC Medical Genetics (BMC-Springer), Gene & Meta Gene (Elsevier Publishing), Bioscience Reports (Portland Press), Journal of Clinical Laboratory Analysis (John Wiley & Sons) and Tumor Biology (Sage Journals) etc. His research interests are focused on cancer biology and he has published more than ninety research and review articles in high repute journals with an h-index of 22 and authored ten books.

is presently working as a Senior Researcher and Lecturer in the Department of Biochemistry, Govt. Medical College, Srinagar. Dr. Banday has completed his Ph.D., M.Phil. and M.Sc. in Biochemistry from the University of Kashmir, J&K, India. He is serving as the review editor and associate reviewer for the journal, Frontiers in Oncology - Cancer Epidemiology and Prevention (Frontiers Group) and full time reviewer for various journals including Gene (Elsevier Publishing), Bioscience Reports (Portland Press), BioMed Research International (Hindawi Publishing) and Toxicology and Environmental Health Sciences Review (Springer Nature). He has authored more than twenty research and review articles and three books.

is presently working as a Senior Researcher and Lecturer in the Department of Biochemistry, Govt. Medical College, Srinagar. She has completed her PhD, MPhil, and MSc in clinical biochemistry from the University of Kashmir, J&K, India. She works as free-lance scientific content writer with many scientific magazines. She has published more than thirty research and review articles and authored four books.