Statistical methods in genetic epidemiology / Duncan C. Thomas.

Format:

Book

Author/Creator:

Thomas, Duncan C., author.

Series:

Oxford scholarship online.

Oxford scholarship online

Language:

English

Subjects (All):

Genetic epidemiology--Statistical methods.

Genetic epidemiology.

Physical Description:

1 online resource (xxi, 435 pages) : illustrations

Edition:

1st ed.

Place of Publication:

Oxford : Oxford University Press, 2023.

Language Note:

English

Summary:

This text has a focus on methods of identifying the joint effects of genes and environment on disease patterns. It follows the natural sequence of research, taking readers through study designs and statistical analysis techniques and offering examples from the literature on genetic epidemiology.

Contents:

Intro

Contents

SUMMARY OF COMMONLY USED NOTATION

1. OVERVIEW OF GENETIC EPIDEMIOLOGY

The Process of Genetic Epidemiology

Descriptive Epidemiology and Hypothesis Generation

Familial Aggregation

Segregation Analysis

Linkage Analysis

Fine Mapping and Cloning

Candidate Gene Association Studies

Characterizing the Effects of Cloned Genes

Conclusions

2. BASIC CONCEPTS OF MOLECULAR GENETICS

Chromosomes

Cell Division

Cell Cycle

Mitosis

Meiosis

Genetic Recombination

Meiotic Recombination

Mitotic Recombination

DNA

Gene Expression

Transcription

RNA Processing

Translation

Post-Translational Modification

DNA Polymorphism

3. PRINCIPLES OF MENDELIAN INHERITANCE

Basic Concepts

Mendelian Inheritance at a Single Locus

Classical Autosomal Dominant Inheritance

Classical Autosomal Recessive Inheritance

Classical X-Linked Inheritance

Multiallelic Loci

Mendelian Inheritance at Two Loci

4. BASIC EPIDEMIOLOGIC AND STATISTICAL PRINCIPLES

Basic Probability Theory

Basic Epidemiologic Principles

Study Designs

Measures of Disease Frequency and Association

Interpretation of Epidemiologic Associations

Maximum Likelihood

Generalized Estimating Equations

Markov Chain Monte Carlo Methods

Randomization Procedures

5. FAMILIAL AGGREGATION

Genetic Relationships and Gene Identity

Formal Derivation of &amp

#966

and &amp

#916

Familial Correlations of Continuous Phenotypes

Familial Risk of Disease

The Concept of Familial Risk

Design Principles

Analytical Approaches

Other Designs

Randomization Tests of Familial Clustering

Twin Studies

Adoption Studies

Approaches to Dependent Data

Genetic Models

Regressive Models

Frailty Models.

Generalized Estimating Equations

6. SEGREGATION ANALYSIS

Design Issues

Ascertainment of Families

Sequential Sampling

Classical Methods for Sibships

Ascertainment Correction

Likelihood Methods for Pedigree Analysis

General Model

Polygenic and Mixed Models

Penetrance Models

The Elston-Stewart Peeling Algorithm

Hypothesis Testing

Alternative Methods

Gibbs Sampling

Applications to Breast Cancer

7. LINKAGE ANALYSIS

Recombination and Map Functions

Direct Counting Methods

Relative Pair Methods

Identity by State and by Descent

Affected Sib Pair Methods

Affected Relative Pair Methods

Sib Pair Methods for Quantitative Traits

Generalized Estimating Equation Methods

Lod Score Methods

Two-Point Linkage

Joint Segregation and Linkage Analysis and the Mod Score

Multipoint Linkage and Ordering Loci

Genome-Wide Scans

Genetic Heterogeneity

Gibbs Sampling Methods

Power and Sample Size

Selection Bias and Misspecification

Fine Mapping and Cloning of BRCA1

8. PRINCIPLES OF POPULATION GENETICS

Distribution of Genes at a Single Locus

Hardy-Weinberg Equilibrium in Large Populations

Genetic Drift in Finite Populations

Effects of Mutation and Selection

Distribution of Genes at Two Loci

Origins of Linkage Disequilibrium

Decay of Linkage Disequilibrium

Estimation of Linkage Disequilibrium

Evolution of Haplotypes

Ancestral Inference

Coalescent Trees

Ancestral Recombination Graphs

9. TESTING CANDIDATE GENE ASSOCIATIONS

Distributions of Genes in Affected and Unaffected Individuals

Homogeneous Populations

Ethnically Stratified Populations

Families

Design Options for Association Studies

Cohort Study Designs.

Case-Control Designs

Parental Controls and the Transmission/Disequilibrium Test

Family-Based Association Tests

Quantitative Traits

10. LINKAGE DISEQUILIBRIUM MAPPING

Recently Admixed Populations

Isolated Populations

Empiric Methods for Estimating the Location of a Disease Gene or Mutation

Haplotype Sharing Methods

Parametric Methods Based on the Coalescent

How Much Linkage Disequilibrium Is There in the Human Genome?

Haplotype Block Structure

11. GENE CHARACTERIZATION

Estimation of Genetic Risks

Cohort and Case-Control Designs Using Unrelated Subjects

Familial Cohort Study Designs

Multistage Sampling and Countermatching

Relative Efficiency of the Alternative Designs

Gene-Environment and Gene-Gene Interactions

Case-Control Designs

Case-Only Studies

Case-Parent Trios

Gene-Environment Interactions for Breast Cancer

Relative Efficiency of Alternative Designs for Interaction Effects

Estimation of Gene Frequencies and Carrier Probabilities

Searching for Additional Genes

12. TYING IT ALL TOGETHER: THE GENETIC EPIDEMIOLOGY OF COLORECTAL CANCER

History, Descriptive Epidemiology, and Familiality

Mechanistic Hypotheses

Models of Carcinogenesis

Cancer Genes

Genomic Instability

Familial Cancer Syndromes

Familial Adenomatous Polyposis

Hereditary Nonpolyposis Colorectal Cancer

Sporadic Cancers

Genetic Alterations in Colorectal Cancer

Pathways: Suppressor and Mutator

Metabolic Pathways

The Relationship Between Polyps and Colorectal Cancer

Discovery of Novel Colorectal Cancer Genes

Implications for Clinical Management

The Future

Genome-Wide Scans for Association and Interactions

Gene Expression Assays

DNA Methylation and Loss of Imprinting

GLOSSARY

A

B

C

D

E.

F

G

H

I

K

L

M

N

O

P

Q

R

S

T

V

W

X

REFERENCES

INDEX

E

F

J

U

X.

Notes:

Formerly CIP.

Previously issued in print: 2004.

Includes bibliographical references and index.

Derived record based on print version record and publisher information.

ISBN:

0-19-773796-X

1-280-84530-9

0-19-974805-5

1-4294-2064-2

OCLC:

76953042