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PubMed2005

[Genetic epidemiology: epidemiology, genetics or none of them?].

In an attempt to contribute to a better understanding of the identity of Genetic Epidemiology, we review its conception, its field of influence, its appropriate methods and techniques and, at last, some of its applications. Genetic Epidemiology involves the study of genetic factors acting on diseases and on their environmental interactions. These includes two major areas: a descriptive one, related to the distribution of such conditions in families and populations, to the epidemiologic surveillance and to the study of determinants; and another characterized by intervention, which is related to preventive measures. Because of the difficulty in considering all possible situations, especial attention is given to review some converging epidemiological and genetical methods and techniques. Among them, we stress the case studies on lab methodologies, as dermatoglyphics, and on quantitative procedures, as path analysis. Some studies are taken as examples for application, since they have been object of research in our country: leprosy, hydrargyrism and schizophrenia.

English Abstract↗
PubMed2003

Genetic epidemiology, genetic maps and positional cloning.

Genetic epidemiology developed in the middle of the last century, focused on inherited causes of disease but with methods and results applicable to other traits and even forensics. Early success with linkage led to the localization of genes contributing to disease, and ultimately to the Human Genome Project. The discovery of millions of DNA markers has encouraged more efficient positional cloning by linkage disequilibrium (LD), using LD maps and haplotypes in ways that are rapidly evolving. This has led to large international programmes, some promising and others alarming, with laws about DNA patenting and ethical guidelines for responsible research still struggling to be born.

Chromosome Mapping↗
PubMed1998

The future of genetic epidemiology.

Genetic epidemiology is a hybrid discipline whose ultimate aim is to identify and to characterize population-level factors that contribute to disease. Genetic epidemiologists often pursue this aim through the design and implementation of studies that simultaneously invoke principles in population genetics, epidemiology, molecular biology and biostatistics. However, traditional (and much contemporary) research in genetic epidemiology has barely tapped the potential that these disciplines have to work together. It is our view that future genetic epidemiology inquiry will benefit greatly from stronger integration of these disciplines and is likely to converge on themes in fields as diverse as demography, classical population and evolutionary genetics, pharmacoepidemiology, and ecology. The ultimate focus of this research will be evolution and maintenance of disease within and across populations.

Genetics, Population↗
PubMed2002

Genetic epidemiology: bringing genetics to the population--the NAPE Lecture 2001.

OBJECTIVE: To present an overview of the status of genetics of mental disorders and to describe the role of genetic epidemiology in the future of the implementation of the human genome initiative. METHOD: Reviews evidence on familial recurrence risk for major mental disorders and approaches to identify genes for complex disorders. RESULTS: The next decade will witness shifts in approaches of both epidemiology and genetics to address sources of complexity of the mental disorders. Descriptive genetic epidemiology will evolve into analytic genetic epidemiology by shifting the key questions from estimation of the magnitude of mental disorders to identification of risk and protective environmental factors that may be informative for both etiology and prevention. Genetics research will expand to population-based studies for complex disorders and will employ designs and methods that incorporate sources of complexity. CONCLUSION: In summary, the next era of human genetics will witness major shifts in approaches to identify the genes underlying mental disorders. The contributions of genetic epidemiology to translate advances in molecular genetics to public health are discussed.

Genetic Markers↗
PubMedDate not supplied

Unsolved problems in genetic epidemiology.

Genetic epidemiology faces six critical issues: its scope, genetic mapping, complex inheritance, population structure, nonmendelian genetics, and the internationalization of genetics. To solve these problems the scope must be broadened to include normal variation, although much of descriptive genetics will be lost to related sciences. Genetic mapping continues to play an essential role for positional cloning and chromosome architecture, which sequencing cannot replace. A large part of current effort is devoted to complex inheritance, requiring development of methods to pool multiple studies. The effect of population structure on forensic DNA identification appears to have been solved, but its effect for complex inheritance and genetic loads remains to be clarified. Populational analysis of non-Mendelian genetics has been largely neglected. The infrastructure of genetics must be internationalized if legal and ethical principles are to be supported and genetic epidemiology is to realise its potential.

Chromosome Mapping↗
PubMed2003

[Genetic epidemiology].

Genetic epidemiology--i.e. studies of the interaction between genes and environment--has lead to the identification of monogenic disorders and more recently of genes involved in polygenic diseases by means of family (linkage) and populations (association) studies. The recent complete sequencing of the human genome combined with new methods such as gene expression analyses with microchip technology and proteome analyses including bioinformatics increases the possibility to find genes involved in various diseases and help to identify new targets for therapy and/or prevention.

Computational Biology↗
PubMed1992

The epidemiology of genetic epidemiology.

Familial aggregation for disease is important; strong familial risk factors must exist even if the increased risk to a relative of an affected individual is modest. It is in practice difficult, however, to conduct studies in genetic epidemiology which conform to strict epidemiological principles. For twin studies there are two major questions: Are twins 'no different' from the population on which inference is to be made? Are study twins 'no different' to twins in the population? The importance of each question of bias depends on the scientific question, the trait(s) studied, and sampling issues. The strength of the twin design is its ability to refute the null hypothesis that genetic factors do not explain variation in a trait. Following the Popperian paradigm, alternate hypotheses should be considered in depth (both theoretically and empirically), with a design and sample size sufficient to exclude not just naive explanations. More sophisticated statistical techniques are now being applied, so the philosophy, assumptions, and limitations of statistical modelling must be appreciated. The concept of 'heritability' has, in the past, been misunderstood and misused. New advances in DNA technology promise to revolutionise epidemiological thinking, and so case-control-pedigree designs may well become standard tools. The strengths and limitations of studies based on related individuals as the sampling unit are discussed.

Adult↗
PubMed2004

Characteristics of genetic epidemiology and genetic models for vitiligo.

BACKGROUND: Vitiligo occurs with a frequency of 0.1% to 2% in various populations and is classified into several subtypes by its clinical presentation. Although genetic factors are thought to be involved in the cause of vitiligo, the genetic models for different phenotypes of vitiligo are unknown. OBJECTIVE: Our purpose was to explore potential genetic models for different phenotypes of vitiligo and analyze genetic epidemiologic characteristics of vitiligo in a Chinese population. METHODS: Information from 2247 patients and members in their families was collected using a uniform questionnaire. Patients' clinical characteristics and their family history were analyzed using software. A complex segregation analysis was conducted to propose potential genetic models for vitiligo. RESULTS: Different subtypes of vitiligo had different ages of disease onset. In relatives of patients with vitiligo, the risk of developing vitiligo increased with increasing relatedness to the patients with vitiligo. A polygenic additive model was the best model for focal vitiligo, vitiligo vulgaris, acrofacial vitiligo, and segmental vitiligo with approximately 50% heritability in each. For universal vitiligo, the best model was an environmental model. CONCLUSION: This study indicated that different phenotypes of vitiligo had different pathogeneses and genetic backgrounds. Onset of vitiligo is possibly affected by both genetic backgrounds and common environmental factors.

Adolescent↗
PubMed1993

Scope and strategies of genetic epidemiology: analysis of articles published in Genetic Epidemiology, 1984-1991.

Genetic epidemiology is a relatively new discipline that seeks to unravel the role of genetic factors and their interactions with environmental factors in the etiology of diseases, using population and family study approaches. To characterize the overall direction and emphasis of research strategies used in this field, we reviewed original research articles published in the journal Genetic Epidemiology since its inception in 1984 until the end of 1991. Of 259 published original articles, 92 (35%) focused primarily on methodologic/statistical developments, most commonly in the area of linkage analysis/gene mapping, and 167 (65%) articles were applied or data-derived. Only 42 articles (16%) were population studies, and 217 (84%) were family studies. Most family studies dealt with genetic analysis of pedigree data using segregation and linkage analyses. Of the 137 applied family studies, 73 (53%) were drawn from well-defined populations, and only 40 (29%) considered specific environmental factors in their analyses. These findings clearly indicate a rapid growth in the methodologic and statistical aspects of genetic epidemiology, and in the emphasis on family-based studies and genetic analysis methods. Further developments in genetic epidemiology will require greater integration of epidemiologic approaches of study design and analyses into population and family studies of disease etiology.

Epidemiology↗
PubMed1992

Multiple metabolic syndrome: aspects of genetic epidemiology and molecular genetics.

Epidemiological studies have documented the association between cardiovascular disease and high blood pressure, dyslipidaemia, impaired glucose tolerance, non-insulin-dependent diabetes mellitus (NIDDM), and central obesity. In fact, several of these abnormalities, often all of them, can be identified in the very same individuals, constituting the entity of the multiple metabolic syndrome. Furthermore, many of these abnormalities seem to run in families. These findings raise important questions about the genetic epidemiology of the disease and about the molecular genetic background of the most likely common nominator of this syndrome, namely insulin resistance. Therapeutic actions must also be carefully considered to avoid the encouragement of some abnormalities while treating others.

Apolipoproteins E↗
PubMed1998

Beyond strain typing and molecular epidemiology: integrated genetic epidemiology of infectious diseases.

In the past 20 years, genetic and molecular methods for characterizing pathogen strains have taken a major place in modern approaches to epidemiology of parasitic and other infectious diseases. Here, Michel Tibayrenc explains the main concepts used in this field of research, with special emphasis on the approaches developed in his team, and suggests future avenues to explore.

Journal Article↗
PubMed1999

The 20th century Danish facial cleft population--epidemiological and genetic-epidemiological studies.

Since Dr. Fogh-Andersen's legendary 1942 thesis, the Danish facial cleft population has been one of the most extensively studied in terms of epidemiology and genetic-epidemiology. The etiology of cleft lip and/or palate (CLP) is still largely an enigma, and different results concerning environmental and genetic risk factors are obtained in different countries and regions. This may be due to etiological heterogeneity between settings. Therefore, an in-depth studied area with an ethnically homogeneous population, such as Denmark, has provided one of the best opportunities for progress in CLP etiological research. The present review summarizes epidemiological and genetic-epidemiological studies conducted in the 20th century Danish facial cleft population. Furthermore, analyses of sex differences, time trends and seasonality for more than 7000 CLP cases born in Denmark in the period 1936 to 1987 are presented. The review also points toward the excellent opportunities for continued etiological CLP research in Denmark in the 21st century using already established resources and an on-going prospective cohort study of 100,000 pregnant women.

Child, Preschool↗
PubMed2000

Genetic epidemiologic studies on age-specified traits. NIA Aging and Genetic Epidemiology Working Group.

This commentary calls attention to the value of combining genetic and epidemiologic methods in studies to understand the determinants of two crucial aspects of aging: ages at which certain outcomes (e.g., disease, mortality) occur and rates of change with age of individual's characteristics (e.g., physiologic functions, disease risk factors). Inclusion of age in the specification of traits in genetic epidemiologic studies could lead to improved strategies to increase healthy life expectancy and evaluate individuals' risk for age-related morbidity. Special issues that make genetic epidemiologic approaches important for studies of age-specified phenomena as well as opportunities and challenges for such studies are discussed, including study designs, sampling frames, databases, analytic tools, and related methodological issues. This commentary is based on a report prepared by the Aging and Genetic Epidemiology Working Group, convened by the National Institute on Aging to review opportunities for research on the genetic epidemiology of aging-related outcomes. The report, which contains more extensive discussion, literature review, and references, is available on the World Wide Web at http://www.nih.gov/nia/conferences/GeneticReport111199.htm.

Age Factors↗
PubMed2005

Genetic epidemiology in Germany--from biobanking to genetic statistics.

OBJECTIVES: Genetic epidemiology investigates the role of genetic factors and their interaction with environmental factors (in a broad meaning) for the occurrence of diseases in human populations. Its aim is to undestand the influence of genetics on the development of diseases, their course and the clinical implications, with the final goal to improve prevention, diagnostics and therapy. METHODS: Originally genetic epidemiology was understood as a specialized discipline with the main focus on family-based studies. The extraordinary development of genetics in the last decades--with respect of the understanding of the meaning of genes for human health, as well as by the availability of cost-effective high throughput methods in the lab, has opened enormous opportunities to study genetic factors. Now, genetic epidemiology and genetic statistics have a much broader application. In addition, access to large samples of patients or from the population is needed. This can be realized via biobanks. RESULTS: Large biobanks with 500,000 or more patients or participants from the general population are being established or planned in the UK, Japan or the US. However, in Germany only two smaller activities are ongoing, KORA-gen in the south and POPGEN in the north. Possibilities to reach larger numbers, based on existing cohorts or disease networks are discussed. Ethical boundary conditions have to be taken into account, which seem to improve due to the Opinion of the German National Ethics Council on Biobanks for Research. Furthermore, the activities of the German centers for Genetic Epidemiological Methods (GEMs) as research and support units for genetic statistics and epidemiological methodology are described. CONCLUSIONS: Genetic epidemiology is based strongly on interdisciplinary collaboration and includes basics of genetics, elements of molecular biology to identify genes, population genetics, clinical medicine, and methodological disciplines as epidemiology, biostatistics and bioinformatics. In Germany the situation for this type of patient-based research has recently improved due to the National Genome Research Network (NGFN).

Bioethics↗
PubMed1988

[The role of environmental factors in the etiology of epilepsy (based on data from epidemiological genetic research)].

Genetic-epidemiological analysis of the role of ante-, peri- and postnatal exogenous adversities in the development of epilepsy was performed on the representative sample of 365 families using the multifactor and single locus models. The relationship was established of the genetic factors with ante- and perinatal factors on the one hand, and with postnatal ones on the other. An ecogenetic hypothesis of the epilepsy etiology was put forward.

Ecology↗
PubMed2006

[Genetic epidemiology and cancer].

Genetic epidemiology focuses on the familial and, in particular, genetic, determinants of disease and the joint effects of genes and environmental factors. Thus, genetic epidemiology aims at quantifying the risk of disease, cancer included, associated with genetic variation within a given population. In spite of the fact that most cases of cancer are initiated based on environmental exposures accumulated during a life-time, the carcinogenetic process itself is governed by a set of specified and unspecified genetic malfunctions, making genetic epidemiology a valuable methodological platform in cancer research. Details are given on known and suspected causes of cancer, including presumable gene-gene and gene-environment interactions.

Chromosome Mapping↗
PubMed1990

Population-based twin registries: illustrative applications in genetic epidemiology and behavioral genetics from the Finnish Twin Cohort Study.

The population-based twin registries of Denmark, Finland, Norway and Sweden represent an extraordinary resource for scientific research. Although each register has its own history and composition, they share certain common qualities. All the Nordic countries have a long tradition of population registration, a high standard of living and health-related registers of high quality. The large size of the registers means that they are uniquely placed for representative studies of rare occurrences. Examples of studies that these registers make possible are illustrated with data from the Finnish Twin Cohort, which in its first phase consisted of over 17,000 like-sexed twin pairs born before 1958. It has been recently expanded to include multiple births between 1958 and 1986 (nearly 23,000 sets) and their first-degree relatives. During this period the DZ/MZ ratio decreased, while an increase in MZ twinning rates was observed between 1974 and 1986.

Adult↗