1 Umm AL Qura University GENETIC FACTORS IN COMMON DISEASES Dr Neda M Bogari
2 GENETIC FACTORS IN COMMON DISEASES The common diseases do not usually show a simple pattern of inheritance. The contributing of genetic factors are often multiple, interacting with each other and environmental factors in a complex manner. Its uncommon for either genetic or environmental factors to be entirely responsible for a particular common disease in a single individual. In most instances both genetic and environmental factors are contributory, although sometimes one can appear more important than the other
3 GENETIC SUSCEPTIBILITY TO COMMON DISEASE A small proportion of common diseases cases have single gene causes The major proportion of the genetic basis of common diseases can be considered to be the result of an inherited predisposition of genetic susceptibility.
4 GENETIC SUSCEPTIBILITY TO COMMON DISEASE Common diseases result from a complex interaction of the effects of multi different genes (polygenic inheritance), with environmental factors and influences (multifactorail inheritance).
5 TYPES AND MECHANISMS OF GENETIC SUSCEPTIBILITY Genetic susceptibility of a particular disease can occur through single gene inheritance, e.g. early CHD arising from familial hypercholesterolaemia (FH). In an individual with FH gene, the genetic susceptibility is the main determinant of the development of CHD but this can be modified by environmental alteration, e.g. reduction in dietary cholesterol, lack of exercise, and smoking.
6 TYPES AND MECHANISMS OF GENETIC SUSCEPTIBILITY Inheritance of a single gene susceptibility does not necessarily lead to development of the disease. For some disease exposure to specific environmental factors will be the main determinant in the development of the disease.
7 APPROACHES TO DEMONSTRATE GENETIC SUSCEPTIBILITY TO COMMON DISEASES Population/migration studies Family studies Twin studies Adoption studies Polymorphism association studies Biochemical studies Animal models
8 POPULATION/ MIGRATION STUDIES Differences in the incidence of a particular disease in different population groups suggest the possibility of genetic factors being important. They could also be explained by differences in environmental factors
9 FAMILY STUDIES Finding a higher frequency of a family history of the disease in relatives than in the general population suggested a genetic susceptibility to the disease. Familial aggregation dose not prove a genetic susceptibility since families share a common environment.
10 FAMILY STUDIES The frequency of the disease in couples, who share the same environment but will usually have a different genetic background, can be used as a control, particularly for possible environmental factors in adult life.
11 Family relationships and proportions of genes in common with a proband Relationship Proportion of genes in common Monozygotic twin 1/1 1st degree relative (parent, dizygotic twin, other sib, child) 2nd degree relative (uncle, aunt, grandparent, nephew, niece, grandchild, half-sib) 3rd degree relative (first cousin, greatgrandparent, great-grandchild) 1/2 1/4 1/8 4th degree relative (second cousin) 1/16
12 TWIN STUDIES If identical twins, monozygotic (MZ) have the same trait this could be thought to prove that the trait is hereditary. This is not necessarily so. Since twins tend to share the same environment it is possible they will be exposed to the same environmental factors.
13 TWIN STUDIES comparing differences in the frequency of the disease between nonidentical twins, dizygotic (DZ) and MZ twins pairs. Both members of a pair of twins are said to be concordant when either both are affected or neither is affected. the term disconcordant is used when only one member of a pair of twins is affected.
14 TWIN STUDIES Both MZ & DZ shared the same environment, but MZ are genetically identical and DZ no more difference than brothers and sisters. If the disease is entirely genetically determined then both members of MZ twins will affected but non of DZ twins will have similar concordance rates. If the disease is entirely caused by environmental factors, then DZ and MZ twins will have similar concordance rates.
15 TWIN STUDIES study differences between MZ twin pairs who have been separated from an early age. If the disease is entirely genetically determined then, if one identical twin affected, the other will also be affected even if they have been brought up in different environments.
16 ADOPTION STUDIES Compare the frequency of the disease in individuals who remain with their biological parents with those who are adopted out of their biological family.
17 POLYMORPHISM ASSOCIATION STUDIES DNA polymorphisms allows the possibility of determining whether particular polymorphic variants occur more commonly in individuals affected with a particular disease than in the population in general, or what is known as a polymorphism association
18 BIOCHEMICAL STUDIES Analysis of metabolite or enzyme activity levels in biochemical or metabolic pathways can provide evidence of genetic contribution to some of the common diseases.
19 ANIMAL MODELS Recognition of the same disease which occurs in humans in another species allows the possibility of experimental studies which are often not possible in humans. Transgenic animal models experimentally induced for mutations in single genes involved in the metabolic processes or disease pathways of common diseases will provide vital insights into the genetic contribution to these disorders.
20 DIABETES MELLITUS (DM)
21 CLASSIFICATION OF DM Type 1 or insulin-dependent DM (IDDM) autoimmune, beta-cell destruction, ketonuria. Type 2 or non-insulin-dependent DM (NIDDM) usually older onset associated with obesity MODY (maturity onset diabetes of the young) Gestational diabetes Secondary diabetes
22 CLASSIFICATION OF DM Type 1 or insulin-dependent DM (IDDM) autoimmune, beta-cell destruction, ketonuria. Type 2 or non-insulin-dependent DM (NIDDM) usually older onset associated with obesity MODY (maturity onset diabetes of the young) Gestational diabetes Secondary diabetes
23 what is diabetes... The body unable to handle sugar properly. Insulin from the pancreas is used in the conversion of glucose to energy.
25 Type 1 diabetes Autoimmune destruction of pancreatic beta cells. Peak incidence at years of age. Seasonal variation (lowest in Spring Summer). Increasing incidence. Varying speed of onset.
26 Genetics of Type 1 Diabetes Monozygotic twins % concordance If father has Type 1: 6% risk If mother has Type 1: 1% risk If sibling has Type 1: 8% risk If non-identical twin has Type 1: 10% risk If both parents have Type 1: 30% risk
27 Genetics of Type 2 diabetes If identical twin has Type 2: 100% risk. If one parent has Type 2: 15% risk. If both parents have Type 2: 75% risk. If sibling has Type 2: 10% risk. If non-identical twin has Type 2: 10% risk.
28 Increasing prevalence of Type 2 diabetes Insulin resistance associated with: Obesity Inactivity
29 Prevention of Type 2 Diabetes Lifestyle change Target at risk population Diabetes prevention programme Change life style Health professionals need to set example of proper health diet.
31 MODY: Maturity Onset Diabetes in the Young Autosomal dominant Different phenotypes correspond with different genotypes Hepatic nuclear factor (HNF) 4 alpha Glucokinase (less severe disease) HNF 1 alpha HNF 1 beta
32 Gestational diabetes Genetically heterogeneous Increasing insulin resistance in pregnancy 50% develop Type 2 diabetes later in life Develops 2nd / 3rd trimester More common if overweight and inactive Neonatal problems: macrosomia / respiratory distress / hypoglycaemia
34 Hypertension Twin and family studies indicate that both genes and environmental factors are involved in the determination of blood pressure but the nature of these and their mechanism of interaction are currently obscure.
35 Hypertension Genes may also be important with regard to choice of antihypertensive therapy. For e.g, high blood pressure is associated with a better response to beta blocker in blacks than whites. If one parent is hypertensive, the risk to offspring is 30%. If both parents are hypertensive, the risk to offspring is 40%.
36 CORONARY HEART DISEASE
37 Coronary Heart Disease CHD remains the most frequent cause of morbidity and mortality in Western industrialised countries, accounting for more deaths than all forms of cancer combined. The role of genes in the causation of atherosclerosis is supported by family studies and concordance rates of 65% for CHD in MD twins.
38 Coronary Heart Disease Patients with genetic hyperlipidemia present with cholesterol levels that are markedly elevated and, in some instance, may have been elevated since childhood. The importance of the recognition of a genetic hyperlipidemia is that it influences therapy and management.
39 Coronary Heart Disease In general, genetic hyperlipidemia do not respond adequately to environmental modulation by diet; drug therapy is often needed to bring down the cholesterol levels. genetic hyperlipidemia should be suspected when there is a positive family history, as defined by the presence of angina, heart attack, or stroke in a first-degree relative before 50 years old.
40 Coronary Heart Disease Genes are particularly implicated in premature atherosclerosis when a first degree relative has a history of either angina or heart attack before 50 years of age. In this group, the family history is the most important indicator that the individual is at increased risk for CHD.
41 Coronary Heart Disease Important genetic disorders causing premature atherosclerosis: Familial hyperlipidemia (FH): is inherited as an autosomal dominant trait and is penetrant early in life. The molecular basis for this disorder is different mutations in LDL receptor gene. Familial combined hyperlipidemia (FCH): occurs with a frequency of approximately 1-2% in the general population. The diagnosis of FCH can be made in the presence of an elevated LDL cholesterol or triglyceride level in the patient and siblings or other first-degree relatives. The pathogenesis of the disorder is unknown.
Preventing Diabetes Mellitus By: James L. Holly, MD What is your risk of developing Diabetes? There are six risk factors for developing Type II Diabetes Mellitus. There is a seventh with female patients.
Different types of diabetes How many types of diabetes are there? Many people are familiar with type 1, type 2 and gestational diabetes, but did you know there are a range of other types of diabetes that
7 Chapter 2 Scientific basis What genes are 2.1 The inheritance of all our characteristics, including susceptibility to genetic diseases, is dependent on genes and chromosomes. Genes are large molecules
Chapter 20 Diabetes Mellitus Chapter 20 Lesson 20.1 Key Concept Diabetes mellitus is a metabolic disorder of glucose metabolism with many causes and forms. About Diabetes 20.8 million Americans have diabetes
Important points Diabetes mellitus (diabetes) is a condition resulting in high levels of sugar (glucose) in the blood There are several types of diabetes: type 1 (insulin dependent diabetes), type 2 (non-insulin
An introduction to nutrigenomics (Gene-based nutrition) Friday 12 June 2015 Dubai, UAE Presented by: Umahro Cadogan Adjunct Professor of Nutrition and Functional Medicine at University of Western States
Genetic Models Some analyses of genetic data are largely descriptive, e.g., what proportion of siblings of a proband are also affected with the disorder. Can also construct genetic models and determine
WHAT IS DIABETES MELLITUS? CAUSES AND CONSEQUENCES DEDBT01954 Lilly Deutschland GmbH Werner-Reimers-Straße 2-4 61352 Bad Homburg Living your life as normal as possible www.lilly-pharma.de www.lilly-diabetes.de
Evaluation and Treatment of Hypertriglyceridemia Lars Berglund, M.D., Ph.D. John Brunzell, M.D. 1 Disclosures Lars Berglund, MD, PhD: Consultant, Danone; Stockholder, Novo Nordisk, Pfizer John Brunzell,
Genetic Epidemiology and Human Genetics David Duffy Queensland Institute of Medical Research Brisbane, Australia Genetic Epidemiology A science that deals with aetiology, distribution, and control of disease
Diabetes and Heart Disease Diabetes and Heart Disease According to the American Heart Association, diabetes is one of the six major risk factors of cardiovascular disease. Affecting more than 7% of the
TWINS AND GENETICS TWINS Heritability: Twin Studies Twin studies are often used to assess genetic effects on variation in a trait Comparing MZ/DZ twins can give evidence for genetic and/or environmental
Human genetics: Why? Human Genetics Introduction Determine genotypic basis of variant phenotypes to facilitate: Understanding biological basis of human genetic diversity Prenatal diagnosis Predictive testing
University of Michigan Hospitals and Health Centers Pediatric Metabolic Syndrome A growing epidemic Shannon Russell Dietetic Intern June 2012 Overview Causes Risk Factors Signs and Symptoms Identification/Diagnosis
ICD 10 CM Diabetes Mellitus Hypertension 1 Legal Stuff The information provided here is personal opinion only and should not be construed as legal advice. Each provider is ultimately responsible for bills
Chapter 19 Coronary Heart Disease and Hypertension Chapter 19 Lesson 19.1 Key Concepts Cardiovascular disease is a leading cause of death in the United States. Several risk factors contribute to the development
Familial Hypercholesterolaemia A Guide for Patients and their Families Delivering a Healthy WA Contentstents What is cholesterol? 2 How is cholesterol moved around the body? 2 Can cholesterol be harmful?
Effect of Exercise on BMI and Biochemical Profile of Selected Obese Diabetic Women Nazni, P. *, Poongodi Vijayakumar, T. ** & Angamuthu, K. *** * Lecturer, Department of Food Science, Periyar University,
Risk Factors Associated with Cardiovascular Disease There are a number of risk factors predisposing any one person to cardiovascular disease. While uncontrollable risk factors such as age, sex and heredity
Type 2 Diabetes, the Metabolic Syndrome, Inflammation, and Arteriosclerosis: December 01, 2005 By Edward J. Shahady, MD  Up to 10% of Americans older than 20 years have type 2 diabetes, and more than
BIOTECH II Biotechnology and Medicine Bacterially expressed proteins Pharm Animals Gene Therapy Genome Project Therapeutic Proteins Human Growth Hormone Promote bone and muscle growth Treat individuals
Clinical guidelines usually recommend that the level of high density lipoprotein cholesterol (HDL-C) should be measured. It is frequently argued that HDL-C levels below 35 mg/dl are causally associated
EPIB 668 Basic elements of Genetic Epidemiology - Common disorders and complex traits Aurélie Labbe - Winter 2011. 1 / 56 Epidemiology Objectives Identify the cause of a disease and its risk factors Determine
Causes, incidence, and risk factors Insulin is a hormone produced by the pancreas to control blood sugar. Diabetes can be caused by too little insulin, resistance to insulin, or both. To understand diabetes,
Markham Stouffville Hospital Adult Diabetes Education Frequently Asked Questions What is diabetes? Diabetes is a disease in which blood glucose levels are above normal. Most of the food we eat is turned
METABOLIC DISORDERS METABOLISM SUM TOTAL OF ALL THE CHEMICAL REACTIONS OCCURRING IN BODY CELS. REACTIONS THAT TRANSFORM SUBSTANCES INTO ENERGY OR MATERIALS THE BODY CAN USE OR STORE BY MEANS OF ANABOLISM
1 University of Papua New Guinea School of Medicine and Health Sciences Division of Basic Medical Sciences Discipline of Biochemistry and Molecular Biology PBL SEMINAR INSULIN RESISTANCE, POLYCYSTIC OVARIAN
PRESS RELEASE World Diabetes Day Focuses on the Growing Health Threat of Diabetes Chris Triggle, PhD Professor of Pharmacology Weill Cornell Medical College in Qatar November 14 th is designated as World
Statistics of Type 2 Diabetes Of the 17 million Americans with diabetes, 90 percent to 95 percent have type 2 diabetes. Of these, half are unaware they have the disease. People with type 2 diabetes often
Patient Information Genetic Testing for Childhood Hearing Loss Introduction This document describes the most common genetic cause of childhood hearing loss and explains the role of genetic testing. Childhood
Diabetes Mellitus and Dementia Andrea Shelton & Adena Zadourian Abstract Diabetes mellitus increases the risk for developing dementia...but there is inconsistency with the subtypes of dementia Diabetes
KEY FACTS Diabetes is on the rise, and is among the top 10 causes of death in Singapore. Indians are most likely to have diabetes, followed by the Malays and Chinese. The risk of diabetes can be reduced
Cardio IQ Advanced Cardiovascular Testing Providing Insights to Your Cardiovascular Health Information you and your doctor can use to develop the best plan to reduce your overall cardiovascular risk. Cardio
Cardiovascular Disease Risk Factors Risk factors are traits and life-style habits that increase a person's chances of having coronary artery and vascular disease. Some risk factors cannot be changed or
Pathophysiology of Lipid Disorders Henry Ginsberg, M.D. Division of Preventive Medicine and Nutrition 1 CHD in the United States CHD is the single largest killer of men and women 12 million have history
YOUR FAMILY HISTORY YOUR FUTURE Your family history holds key information about your past and clues to your future health. Many of your physical traits (such as eye color, hair color, and height) are inherited.
Prevention of and the Screening for Diabetes Part I Insulin Resistance By James L. Holly, MD Your Life Your Health The Examiner January 19, 2012 In 2002, SETMA began a relationship with Joslin Diabetes
DIABETES MELLITUS DEFINITION It is a common, chronic, metabolic syndrome characterized by hyperglycemia as a cardinal biochemical feature. Resulting from absolute lack of insulin. Abnormal metabolism of
Estimating risk profiles for common diseases from environmental and genetic factors Cathryn Lewis King s College London Contents Introduction to genetic prediction Estimating disease risks Implications
Women and Heart Disease Susan Thompson Hingle, M.D Causes of Death in Women Heart Disease Cerebrovascular Disease Lung Cancer COPD Pneumonia/Flu Breast Cancer Accidents Diabetes Ovarian Cancer 370/1000
Inherited Cardiomyopathies: Genetics and Scientific Research Advances Adam Helms, MD Inherited Cardiomyopathy Program University of Michigan Health System Outline How are HCM and DCM heritable? Does genetic
1 Nutrition Type 2 Diabetes: A Growing Challenge in the Healthcare Setting NAME OF STUDENT 2 Type 2 Diabetes: A Growing Challenge in the Healthcare Setting Introduction and background of type 2 diabetes:
Screening for gestational diabetes revisited Ian S.Young Centre for Public Health Queen s University Belfast Gestational Diabetes Mellitus Significance and consequences of GDM Traditional diagnostic criteria
Family History and Diabetes Practical Genomics for the Public Health Professional Outline Overview of Type 2 Diabetes/Gestational Diabetes Familial/Genetic Nature of Diabetes Interaction of Genes and Environment
PATHOGENESIS OF HYPERLIPOPROTEINAEMIAS G.D. Gupta, Atu1 Jain & A.Y. Deshmukh There are two ways to define normal levels of lipoproteins l : i) Serum cholesterol value above the 95th percentile for a given
Diabetes Mellitus: More than Just Type 1 and 2 Brandon Nathan, MD Associate Professor University of Minnesota Objectives 1. Recall three components of the beta cell that are important etiologies for monogenic
2 DOES IT RUN IN THE FAMILY? A Guide to Genetics and Health Customize this booklet for your family or community! www.familyhealthhistory.org GENETIC ALLIANCE Contents Why is genetics important to my family
METSIM Study (METabolic Syndrome In MEN) Dear Participant Department of Medicine of the University of Kuopio is currently carrying out a study aiming to investigate the role of the metabolic syndrome as
Known Donor Questionnaire Your donor s answers to these questions will provide you with a wealth of information about his health. You ll probably need assistance from a health care provider to interpret
National Diabetes Statistics What is diabetes? Diabetes mellitus is a group of diseases characterized by high levels of blood glucose resulting from defects in insulin production, insulin action, or both.
Diabetes mellitus Lecture Outline I. Diagnosis II. Epidemiology III. Causes of diabetes IV. Health Problems and Diabetes V. Treating Diabetes VI. Physical activity and diabetes 1 Diabetes Disorder characterized
Genomics and Survey Questions Updated March 2007 Compiled by the University of Washington Center for Genomics & Public Health This publication is distributed free of charge and supported by CDC Grant #U10/CCU025038-2.
Impact of Exercise on Patients with Diabetes Mellitus Bret Goodpaster, Ph.D. Exercise Physiologist Assistant Professor of Medicine University of Pittsburgh Division of Endocrinology and Metabolism Learning
Web Quest Abstract Students explore the Using Family History to Improve Your Health module on the Genetic Science Learning Center website to complete a web quest. Learning Objectives Chronic diseases such
Obesity 101 PILI Ohana DNHH Team Claire Townsend, Dr. Marjorie Mau October 20, 2008 2:00 PM Obesity 101 Overview of Obesity Health hazards associated with Obesity Heart Disease, Diabetes, Other disorders
11111 This fact sheet describes when prostate cancer is considered to be a hereditary or familial condition. A small number of families have an increased chance of developing cancer because of an inherited
INSULIN RESISTANCE Santi Syafril Divisi Endokrin-Metabolik Departemen Ilmu Penyakit Dalam FK USU / RSUP HAM Medan Other Names Used: Syndrome X Cardiometabolic Syndrome Cardiovascular Dysmetabolic Syndrome
Diabetes Definition Diabetes is a chronic (lifelong) disease marked by high levels of sugar in the blood. Causes Insulin is a hormone produced by the pancreas to control blood sugar. Diabetes can be caused
Obstetric Anesthesia: Labor Analgesia in the Morbidly Obese Patient James Bates, PhD, MD Associate Professor Director of the Division of Obstetric Anesthesia Clinical Coordinator Main Operating Rooms Department
Controversies in Primary Care: Treating Pre-Diabetes Disclosures I have no disclosures regarding the content of this lecture today. Kevin J. Goist, MD Assistant Professor of Clinical Medicine Lead Physician,
BEST PRACTICE EV I DENCE-BASED GUIDE LINE THE ASSESSMENT AND MANMENT OF CARDIOVASCULAR RISK KEY MESSS Assessment of absolute is the starting point for all discussions with people who have factors measured.
United States, 2005 General Information What is diabetes? Diabetes is a group of diseases marked by high levels of blood glucose resulting from defects in insulin production, insulin action, or both. Diabetes
Cardiovascular Disease Genetics in Primary Care: A Faculty Development Initiative A resident asks... Why should a primary care doctor want to know about genetics and cardiovascular (CV) disease? Key Points:
IRIDOLOGY THE PANCREAS Compiled by Campbell M Gold (2006) CMG Archives http://campbellmgold.com --()-- Introduction The pancreas, with its function of insulin secretion, is the organ that is often associated
Cardiovascular Diseases and Diabetes LEARNING OBJECTIVES Ø Identify the components of the cardiovascular system and the various types of cardiovascular disease Ø Discuss ways of promoting cardiovascular
ROSUVASTATIN RATIOPHARM Date: 5/2016, Version: 3.0 VI.2 VI.2.1 Elements for a public summary Overview of disease epidemiology Familial hypercholesterolemia (FH) is a genetic disorder characterized by high
County of Sonoma Health Screenings Basic Preventive Screening Summary Presented to: County of Sonoma Presented by: HealthFair Date: June 04, 2010 1 Table of Contents General Summary... 3 Basic Preventive
Is Insulin Effecting Your Weight Loss and Your Health? Teressa Alexander, M.D., FACOG Women s Healthcare Associates www.rushcopley.com/whca 630-978-6886 Obesity is Epidemic in the US 2/3rds of U.S. adults
Metabolic changes in Diabetes mellitus (DM) Dr. Howaida Nounou College of science Biochemistry department Dr. Howaida Nounou 1 The abnormalities caused by absolute or relative insulin deficiency is called
PREVALENCE OF TYPE 2 DIABETES MELLITUS IN PATIENTS WITH HEPATITIS C VIRUS INFECTION IN SANA'A, YEMEN. Prepared by: Dr/ Saeed Mana Almaidamah Under supervision of Ass. Prof. Dr/ Mohammed Ba Mashmos IS THERE
Does Gender Make a Difference When Managing CVD in General Practice? Does Gender Make a difference in the Treatment of CHD? Dr Jennifer Johns MBBS, FRACP, FCSANZ Cardiologist Austin Health Cardiologist
Pancreatic hormones and glucose metabolism Dr. Isabel Hwang Department of Physiology Faculty of Medicine University of Hong Kong May 2007 (firstname.lastname@example.org) Hormones important for glucose metabolism
Chapter 1 Epidemiology, Physical Activity, Exercise, and Health Prepared by: Richard C. Krejci, Ph.D. Professor of Public Health Chapter 1 8.28.14 What You Will Learn in this Chapter How to apply scientific
Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier Test Disease Population Triad Disease name and description (please provide any alternative names you wish listed) Neonatal
20 21 Two of my uncles struggled with diabetes, and neither was ever able to get it under good control. Ultimately, both of them passed away from the complications of diabetes. Likewise, my cousin is currently
Feature: Guidelines for the Treatment of Diabetes Mellitus 49 NEW CLASSIFICATION AND DIAGNOSTIC CRITERIA OF DIABETES MELLITUS BY THE JAPAN DIABETES SOCIETY* Takeshi KUZUYA** Asian Med. J. 44(2): 49 56,
Prostate Cancer a genetic puzzle. Dr Sally Anstey June 2012 What are genes? Genes carry information in the form of DNA within each cell of the human body. Researchers estimate that there are 30,000 different
NSW HEALTH HAVING A BABY PAGE 114 Prenatal testing and genetic counselling Every couple wants to have a healthy baby. However, there are some couples whose baby may have (or will develop) a serious physical
Any substance that causes changes in the DNA of an organism. mutagen A change in the DNA of an organism which affects the body cells and cannot be passed down to offspring. A change in the DNA of an organism