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Design and analysis issues in genome-wide association studies

Duncan C. Thomas

in Human Genome Epidemiology, 2nd Edition: Building the evidence for using genetic information to improve health and prevent disease

Published in print:
2009
Published Online:
May 2010
ISBN:
9780195398441
eISBN:
9780199776023
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780195398441.003.0008
Subject:
Public Health and Epidemiology, Public Health, Epidemiology

The recent availability of commercial high-density genotyping technologies, combined with the identification of subsets of single nucleotide polymorphisms (SNPs) that are capable of “tagging” most of ... More


Case-control and cohort studies in the age of genome-wide associations

Teri Manolio

in Human Genome Epidemiology, 2nd Edition: Building the evidence for using genetic information to improve health and prevent disease

Published in print:
2009
Published Online:
May 2010
ISBN:
9780195398441
eISBN:
9780199776023
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780195398441.003.0006
Subject:
Public Health and Epidemiology, Public Health, Epidemiology

Environmental modifiers of the effects of genetic variants, or gene-environment interactions, have received increased attention in recent years due to the recognition that genetic variants alone are ... More


Genome-wide association studies, field synopses, and the development of the knowledge base on genetic variation and human diseases

Muin J. Khoury, Lars Bertram, Paolo Boffetta, Adam S. Butterworth, Stephen J. Chanock, Siobhan M. Dolan, Isabel Fortier, Montserrat Garcia-Closas, Marta Gwinn, Julian P. T. Higgins, A. Cecile J. W. Janssens, James M. Ostell, Ryan P. Owen, Roberta A. Pagon, Timothy R. Rebbeck, Nathaniel Rothman, Jonine L. Bernstein, Paul R. Burton, Harry Campbell, Anand P. Chokkalingam, Helena Furberg, Julian Little, Thomas R. O’Brien, Daniela Seminara, Paolo Vineis, Deborah M. Winn, Wei Yu, and John P. A. Ioannidis

in Human Genome Epidemiology, 2nd Edition: Building the evidence for using genetic information to improve health and prevent disease

Published in print:
2009
Published Online:
May 2010
ISBN:
9780195398441
eISBN:
9780199776023
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780195398441.003.0012
Subject:
Public Health and Epidemiology, Public Health, Epidemiology

This chapter reports the findings and recommendations from a multidisciplinary workshop, including geneticists, epidemiologists, journal editors, and bioinformatics experts, that was sponsored by the ... More


Osteoporosis

André G. Uitterlinden, Joyce B. J. van Meurs, and Fernando Rivadeneira

in Human Genome Epidemiology, 2nd Edition: Building the evidence for using genetic information to improve health and prevent disease

Published in print:
2009
Published Online:
May 2010
ISBN:
9780195398441
eISBN:
9780199776023
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780195398441.003.0017
Subject:
Public Health and Epidemiology, Public Health, Epidemiology

This chapter discusses gene-disease associations in osteoporosis. Osteoporosis is — together with osteoarthritis — the most common locomotor disease, and its clinical sequela, including fractures, ... More


Genome-Wide Association Studies: Back to the Future

Margaret Lock

in The Alzheimer Conundrum: Entanglements of Dementia and Aging

Published in print:
2013
Published Online:
October 2017
ISBN:
9780691149783
eISBN:
9781400848461
Item type:
chapter
Publisher:
Princeton University Press
DOI:
10.23943/princeton/9780691149783.003.0007
Subject:
Anthropology, Social and Cultural Anthropology

This chapter examines findings from the newly developed technology of genome-wide association studies (GWAS) being applied to the investigation of Alzheimer disease (AD), primarily in the United ... More


Colorectal cancer

Harry Campbell, Steven Hawken, Evropi Theodoratou, Alex Demarsh, Kimberley Hutchings, Candice Y. Johnson, Lindsey Masson, Linda Sharp, Valerie Tait, and Julian Little

in Human Genome Epidemiology, 2nd Edition: Building the evidence for using genetic information to improve health and prevent disease

Published in print:
2009
Published Online:
May 2010
ISBN:
9780195398441
eISBN:
9780199776023
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780195398441.003.0013
Subject:
Public Health and Epidemiology, Public Health, Epidemiology

Inherited genetic factors play an important role in the etiology of colorectal cancer. Rare high-penetrance mutations account for a small proportion of diseases but their identification plays an ... More


Coronary heart disease

Adam S. Butterworth, Julian P. T. Higgins, Nadeem Sarwar, and John Danesh

in Human Genome Epidemiology, 2nd Edition: Building the evidence for using genetic information to improve health and prevent disease

Published in print:
2009
Published Online:
May 2010
ISBN:
9780195398441
eISBN:
9780199776023
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780195398441.003.0019
Subject:
Public Health and Epidemiology, Public Health, Epidemiology

Coronary heart disease (CHD) — which includes myocardial infarction, angina pectoris, and stenosis of the coronary arteries — is the leading cause of death worldwide, with over 7 million deaths per ... More


Principles of analysis of germline genetics

Jesus Gonzalez-Bosquet and Stephen J. Chanock

in Human Genome Epidemiology, 2nd Edition: Building the evidence for using genetic information to improve health and prevent disease

Published in print:
2009
Published Online:
May 2010
ISBN:
9780195398441
eISBN:
9780199776023
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780195398441.003.0002
Subject:
Public Health and Epidemiology, Public Health, Epidemiology

This chapter presents an overview of the development and progress in applications of genomic technologies, with a focus on genomic sequence variation. Topics discussed include genetic variation, ... More


Type 2 diabetes

Eleftheria Zeggini and Mark I. McCarthy

in Human Genome Epidemiology, 2nd Edition: Building the evidence for using genetic information to improve health and prevent disease

Published in print:
2009
Published Online:
May 2010
ISBN:
9780195398441
eISBN:
9780199776023
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780195398441.003.0016
Subject:
Public Health and Epidemiology, Public Health, Epidemiology

This chapter discusses the genetics of type 2 diabetes (T2D). T2D represents one of the most important causes of global morbidity and mortality. On current projections, the prevalence of this ... More


Schizophrenia

Lars Bertram

in Human Genome Epidemiology, 2nd Edition: Building the evidence for using genetic information to improve health and prevent disease

Published in print:
2009
Published Online:
May 2010
ISBN:
9780195398441
eISBN:
9780199776023
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780195398441.003.0020
Subject:
Public Health and Epidemiology, Public Health, Epidemiology

Efforts to identify the genes that modulate the risk for schizophrenia (SZ) have met with only limited success. This is at least in part due to problems that aggravate epidemiologic research in many ... More


Human genome epidemiology: the road map revisited

Muin J. Khoury, Sara R. Bedrosian, Marta Gwinn, Julian Little, Julian P. T. Higgins, and John P. A. Ioannidis

in Human Genome Epidemiology, 2nd Edition: Building the evidence for using genetic information to improve health and prevent disease

Published in print:
2009
Published Online:
May 2010
ISBN:
9780195398441
eISBN:
9780199776023
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780195398441.003.0001
Subject:
Public Health and Epidemiology, Public Health, Epidemiology

This chapter begins with a discussion of the Rationale for a Second Edition of Human Genome Epidemiology. It then discusses public health applications of genome-wide association studies, the ... More


Bladder cancer

Jonine D. Figueroa, Montserrat Garcia-Closas, and Nathaniel Rothman

in Human Genome Epidemiology, 2nd Edition: Building the evidence for using genetic information to improve health and prevent disease

Published in print:
2009
Published Online:
May 2010
ISBN:
9780195398441
eISBN:
9780199776023
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780195398441.003.0015
Subject:
Public Health and Epidemiology, Public Health, Epidemiology

A literature search was performed using the HuGE Navigator with the term “bladder cancer” and PubMed searches with the terms “ bladder cancer polymorphisms” and “bladder cancer risk variants” through ... More


Integration of the evidence on gene–disease associations: methods of HuGE reviews

Julian P. T. Higgins and Julian Little

in Human Genome Epidemiology, 2nd Edition: Building the evidence for using genetic information to improve health and prevent disease

Published in print:
2009
Published Online:
May 2010
ISBN:
9780195398441
eISBN:
9780199776023
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780195398441.003.0011
Subject:
Public Health and Epidemiology, Public Health, Epidemiology

Human Genome Epidemiology (HuGE) reviews have been a cornerstone of the efforts of the Human Genome Epidemiology Network (HuGENet) to develop an online resource to house the cumulative and changing ... More


Its Rise, Its Fall, Its Rise? Interaction in the Twenty-First Century

James Tabery

in Beyond Versus: The Struggle to Understand the Interaction of Nature and Nurture

Published in print:
2014
Published Online:
January 2015
ISBN:
9780262027373
eISBN:
9780262324144
Item type:
chapter
Publisher:
The MIT Press
DOI:
10.7551/mitpress/9780262027373.003.0004
Subject:
History, History of Science, Technology, and Medicine

In 2003, Terrie Moffitt and Avshalom Caspi published a groundbreaking study examining how the serotonin transporter gene and stressful life events interact to contribute to the risk of developing ... More


Preterm birth

Siobhan M. Dolan

in Human Genome Epidemiology, 2nd Edition: Building the evidence for using genetic information to improve health and prevent disease

Published in print:
2009
Published Online:
May 2010
ISBN:
9780195398441
eISBN:
9780199776023
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780195398441.003.0018
Subject:
Public Health and Epidemiology, Public Health, Epidemiology

Preterm birth (PTB) is a perplexing clinical condition and major public health challenge. In 2006, 12.8% of all births in the United States were preterm, defined as occurring before 37 completed ... More


Childhood leukemias

Anand P. Chokkalingam and Patricia A. Buffler

in Human Genome Epidemiology, 2nd Edition: Building the evidence for using genetic information to improve health and prevent disease

Published in print:
2009
Published Online:
May 2010
ISBN:
9780195398441
eISBN:
9780199776023
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780195398441.003.0014
Subject:
Public Health and Epidemiology, Public Health, Epidemiology

The term “leukemia” refers broadly to cancer of the white blood cells, or leukocytes. As a group, leukemias are the most common cancer among people under 15 years of age, accounting for 32% of all ... More


Where Do We Go from Here?

Michael Beenstock

in Heredity, Family, and Inequality: A Critique of Social Sciences

Published in print:
2012
Published Online:
August 2013
ISBN:
9780262016926
eISBN:
9780262301381
Item type:
chapter
Publisher:
The MIT Press
DOI:
10.7551/mitpress/9780262016926.003.0007
Subject:
Economics and Finance, Econometrics

This chapter explores the possible contribution of genome-wide association studies (GWAS) to social science. Medical scientists have been looking for the human genome for genes that account for ... More


Prostate Cancer

Catherine M. Tangen, Marian L. Neuhouser, and Janet L. Stanford

in Cancer Epidemiology and Prevention

Published in print:
2017
Published Online:
December 2017
ISBN:
9780190238667
eISBN:
9780190238698
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/oso/9780190238667.003.0053
Subject:
Public Health and Epidemiology, Epidemiology, Public Health

Prostate cancer is the most common solid tumor and the second leading cause of cancer-related mortality in American men. Worldwide, prostate cancer ranks second and fifth as a cause of cancer and ... More


Molecular quantitative genetics

Henrik Jensen, Marta Szulkin, and Jon Slate

in Quantitative Genetics in the Wild

Published in print:
2014
Published Online:
August 2014
ISBN:
9780199674237
eISBN:
9780191779275
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/acprof:oso/9780199674237.003.0013
Subject:
Biology, Evolutionary Biology / Genetics, Ecology

Recent development of high-throughput genomics tools has made it possible and affordable to examine the molecular basis of variation in quantitative traits in studies of non-model species in the ... More


Genetic Epidemiology of Cancer

Christopher Haiman and David J. Hunter

in Textbook of Cancer Epidemiology

Published in print:
2018
Published Online:
February 2018
ISBN:
9780190676827
eISBN:
9780190676858
Item type:
chapter
Publisher:
Oxford University Press
DOI:
10.1093/oso/9780190676827.003.0004
Subject:
Public Health and Epidemiology, Epidemiology, Public Health

This chapter explores the genetic epidemiology of cancer: the identification and quantification of inherited genetic factors, and their potential interaction with the environment, in the etiology of ... More


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