Genetic epidemiology with a capital "E".


:Three characteristics of genetic epidemiology that distinguish it from its parent disciplines are a focus on population-based research, a focus on the joint effects of genes and the environment, and the incorporation of the underlying biology of the disease into its conceptual models. These principles are illustrated by a review of the genetic epidemiology of breast and ovarian cancer. Descriptive and mechanistic models for the joint effects of genes and "environmental" risk factors such as hormones and reproductive events are compared to illustrate the need to understand the biology. The contribution of population-based research to the development of the evidence for the involvement of major genes, the discovery of BRCA1 and BRCA2, and their characterization is reviewed. Interactions of major susceptibility genes, metabolic genes, and hormones are also discussed. I conclude with some suggestions for future directions for the field, the journal, and the Society, including recent bioethics initiatives. I believe that the Society should reach out more to the epidemiology community and that the journal should shift its emphasis from pure methodology to also include more substantive papers that illustrate these principles.


Genet Epidemiol


Genetic epidemiology


Thomas DC




Has Abstract


2000-12-01 00:00:00














  • Availability of schizophrenic patients and their families for genetic linkage studies: findings from the Maryland epidemiology sample.

    abstract::It has been suggested that collections of affected sib pairs, or their nuclear families, may be an efficient method for screening for genetic linkages in schizophrenia. We present the data collected in five years from 15 hospitals in the state of Maryland in an effort to determine if such a collection scheme will be f...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Pulver AE,Bale SJ

    更新日期:1989-01-01 00:00:00

  • Haplotype variation and genotype imputation in African populations.

    abstract::Sub-Saharan Africa has been identified as the part of the world with the greatest human genetic diversity. This high level of diversity causes difficulties for genome-wide association (GWA) studies in African populations-for example, by reducing the accuracy of genotype imputation in African populations compared to no...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Huang L,Jakobsson M,Pemberton TJ,Ibrahim M,Nyambo T,Omar S,Pritchard JK,Tishkoff SA,Rosenberg NA

    更新日期:2011-12-01 00:00:00

  • Regionally Smoothed Meta-Analysis Methods for GWAS Datasets.

    abstract::Genome-wide association studies are proven tools for finding disease genes, but it is often necessary to combine many cohorts into a meta-analysis to detect statistically significant genetic effects. Often the component studies are performed by different investigators on different populations, using different chips wi...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Begum F,Sharker MH,Sherman SL,Tseng GC,Feingold E

    更新日期:2016-02-01 00:00:00

  • Score tests for familial correlation in genotyped-proband designs.

    abstract::In the genotyped-proband design, a proband is selected based on an observed phenotype, the genotype of the proband is observed, and then the phenotypes of all first-degree relatives are obtained. The genotypes of these first-degree relatives are not observed. Gail et al. [(1999) Genet Epidemiol] discuss likelihood ana...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Carroll RJ,Gail MH,Benichou J,Pee D

    更新日期:2000-04-01 00:00:00

  • Efficient computation of patterned covariance matrix mixed models in quantitative segregation analysis.

    abstract::The use of patterned covariance matrices in forming pedigree-based mixed models for quantitative traits is discussed. It is suggested that patterned covariance matrix models provide intuitive, theoretically appealing, and flexible genetic modeling devices for pedigree data. It is suggested further that the very great ...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Schork N

    更新日期:1991-01-01 00:00:00

  • Optimized selection of unrelated subjects for whole-genome sequencing studies of rare high-penetrance alleles.

    abstract::Sequencing studies using whole-genome or exome scans are still more expensive than genome-wide association studies on a per-subject basis. As a result, only a subset of subjects from a larger study will be selected for sequencing. To perform an agnostic investigation of the entire genome, subjects may be selected that...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Edwards TL,Li C

    更新日期:2012-07-01 00:00:00

  • Exploring data from genetic association studies using Bayesian variable selection and the Dirichlet process: application to searching for gene × gene patterns.

    abstract::We construct data exploration tools for recognizing important covariate patterns associated with a phenotype, with particular focus on searching for association with gene-gene patterns. To this end, we propose a new variable selection procedure that employs latent selection weights and compare it to an alternative for...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Papathomas M,Molitor J,Hoggart C,Hastie D,Richardson S

    更新日期:2012-09-01 00:00:00

  • Detecting epistatic interactions contributing to quantitative traits.

    abstract::The restricted partition method (RPM) is a partitioning algorithm for examining multi-locus genotypes as (potentially non-additive) predictors of a quantitative trait. The motivating application was to develop a robust method to examine quantitative phenotypes for epistasis (gene-gene interactions), but the method can...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章,评审


    authors: Culverhouse R,Klein T,Shannon W

    更新日期:2004-09-01 00:00:00

  • Presidential address: Six open questions to genetic epidemiologists.

    abstract::Given the rapid pace with which genomics and other -omics disciplines are evolving, it is sometimes necessary to shift down a gear to consider more general scientific questions. In this line, in my presidential address I formulate six questions for genetic epidemiologists to ponder on. These cover the areas of reprodu...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: König IR

    更新日期:2019-04-01 00:00:00

  • Statistical considerations for the analysis of massively parallel reporter assays data.

    abstract::Noncoding DNA contains gene regulatory elements that alter gene expression, and the function of these elements can be modified by genetic variation. Massively parallel reporter assays (MPRA) enable high-throughput identification and characterization of functional genetic variants, but the statistical methods to identi...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Qiao D,Zigler CM,Cho MH,Silverman EK,Zhou X,Castaldi PJ,Laird NH

    更新日期:2020-10-01 00:00:00

  • Truncated tests for combining evidence of summary statistics.

    abstract::To date, thousands of genetic variants to be associated with numerous human traits and diseases have been identified by genome-wide association studies (GWASs). The GWASs focus on testing the association between single trait and genetic variants. However, the analysis of multiple traits and single nucleotide polymorph...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Bu D,Yang Q,Meng Z,Zhang S,Li Q

    更新日期:2020-10-01 00:00:00

  • Genome-wide association studies for discrete traits.

    abstract::Genome-wide association studies of discrete traits generally use simple methods of analysis based on chi(2) tests for contingency tables or logistic regression, at least for an initial scan of the entire genome. Nevertheless, more power might be obtained by using various methods that analyze multiple markers in combin...

    journal_title:Genetic epidemiology



    authors: Thomas DC

    更新日期:2009-01-01 00:00:00

  • Logistic transmission modeling for the simulated data of GAW10 problem 2.

    abstract::A recently developed nonparametric method is a generalization of the transmission disequilibrium test across all alleles of a locus. This approach has been applied to Problem 2 of GAW10 and has been extended to explore the combined contribution of neighboring loci for chromosomes 1, 5, and 8. When applied to the chrom...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Neas BR,Moser KL,Harley JB

    更新日期:1997-01-01 00:00:00

  • Integration of multiomic annotation data to prioritize and characterize inflammation and immune-related risk variants in squamous cell lung cancer.

    abstract::Clinical trial results have recently demonstrated that inhibiting inflammation by targeting the interleukin-1β pathway can offer a significant reduction in lung cancer incidence and mortality, highlighting a pressing and unmet need to understand the benefits of inflammation-focused lung cancer therapies at the genetic...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Sun R,Xu M,Li X,Gaynor S,Zhou H,Li Z,Bossé Y,Lam S,Tsao MS,Tardon A,Chen C,Doherty J,Goodman G,Bojesen SE,Landi MT,Johansson M,Field JK,Bickeböller H,Wichmann HE,Risch A,Rennert G,Arnold S,Wu X,Melander O,

    更新日期:2021-02-01 00:00:00

  • Deciphering Genome Environment Wide Interactions Using Exposed Subjects Only.

    abstract::The recent successes of genome-wide association studies (GWAS) have renewed interest in genome environment wide interaction studies (GEWIS) to discover genetic factors that modulate penetrance of environmental exposures to human diseases. Indeed, gene-environment interactions (G × E), which have not been emphasized in...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Zhao LP,Fan W,Goodman G,Radich J,Martin P

    更新日期:2015-07-01 00:00:00

  • Multifactorial disease risk calculator: Risk prediction for multifactorial disease pedigrees.

    abstract::Construction of multifactorial disease models from epidemiological findings and their application to disease pedigrees for risk prediction is nontrivial for all but the simplest of cases. Multifactorial Disease Risk Calculator is a web tool facilitating this. It provides a user-friendly interface, extending a reported...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Campbell DD,Li Y,Sham PC

    更新日期:2018-03-01 00:00:00

  • Use of variable marker density, principal components, and neural networks in the dissection of disease etiology.

    abstract::Several approaches were taken to identify the loci contributing to the quantitative and qualitative phenotypes in the Genetic Analysis Workshop 12 simulated data set. To identify possible quantitative trait loci (QTL), the quantitative traits were analyzed using SOLAR. The four replicates identified as the "best repli...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Pankratz N,Kirkwood SC,Flury L,Koller DL,Foroud T

    更新日期:2001-01-01 00:00:00

  • Innovative approach to identify multigenomic and environmental interactions associated with birth defects in family-based hybrid designs.

    abstract::Genes, including those with transgenerational effects, work in concert with behavioral, environmental, and social factors via complex biological networks to determine human health. Understanding complex relationships between causal factors underlying human health is an essential step towards deciphering biological mec...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Lou XY,Hou TT,Liu SY,Xu HM,Lin F,Tang X,MacLeod SL,Cleves MA,Hobbs CA

    更新日期:2020-09-30 00:00:00

  • Multiethnic polygenic risk scores improve risk prediction in diverse populations.

    abstract::Methods for genetic risk prediction have been widely investigated in recent years. However, most available training data involves European samples, and it is currently unclear how to accurately predict disease risk in other populations. Previous studies have used either training data from European samples in large sam...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Márquez-Luna C,Loh PR,South Asian Type 2 Diabetes (SAT2D) Consortium.,SIGMA Type 2 Diabetes Consortium.,Price AL

    更新日期:2017-12-01 00:00:00

  • A small-sample multivariate kernel machine test for microbiome association studies.

    abstract::High-throughput sequencing technologies have enabled large-scale studies of the role of the human microbiome in health conditions and diseases. Microbial community level association test, as a critical step to establish the connection between overall microbiome composition and an outcome of interest, has now been rout...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Zhan X,Tong X,Zhao N,Maity A,Wu MC,Chen J

    更新日期:2017-04-01 00:00:00

  • Pooling data and linkage analysis in the chromosome 5q candidate region for asthma.

    abstract::We investigated a variety of methods for pooling data from eight data sets (n = 5,424 subjects) to validate evidence for linkage of markers in the cytokine cluster on chromosome 5q31-33 to asthma and asthma-associated phenotypes. Chromosome 5 markers were integrated into current genetic linkage and physical maps, and ...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章,meta分析


    authors: Jacobs KB,Burton PR,Iyengar SK,Elston RC,Palmer LJ

    更新日期:2001-01-01 00:00:00

  • Sequencing and imputation in GWAS: Cost-effective strategies to increase power and genomic coverage across diverse populations.

    abstract::A key aim for current genome-wide association studies (GWAS) is to interrogate the full spectrum of genetic variation underlying human traits, including rare variants, across populations. Deep whole-genome sequencing is the gold standard to fully capture genetic variation, but remains prohibitively expensive for large...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Quick C,Anugu P,Musani S,Weiss ST,Burchard EG,White MJ,Keys KL,Cucca F,Sidore C,Boehnke M,Fuchsberger C

    更新日期:2020-09-01 00:00:00

  • Evaluation of genetic and environmental effects using GEE and APM methods.

    abstract::Two analytic methods were used in the Problem 2 data set. First, generalized estimating equations (GEE) modelling was developed to adjust for familial correlation in regressions evaluating candidate genes and an environmental factor. Second, the affected-pedigree-member (APM) method was used to identify chromosomal re...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Bull SB,Chapman NH,Greenwood CM,Darlington GA

    更新日期:1995-01-01 00:00:00

  • A sliding-window weighted linkage disequilibrium test.

    abstract::Multilocus linkage disequilibrium (LD) tests that consider inter-marker (LD) are more powerful than single-locus tests when disease etiology is contributed simultaneously by several linked and correlated loci. However, inclusion of redundant non-informative markers may result in reduced testing power and/or inflated f...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Yang HC,Lin CY,Fann CS

    更新日期:2006-09-01 00:00:00

  • Projection regression models for multivariate imaging phenotype.

    abstract::This paper presents a projection regression model (PRM) to assess the relationship between a multivariate phenotype and a set of covariates, such as a genetic marker, age, and gender. In the existing literature, a standard statistical approach to this problem is to fit a multivariate linear model to the multivariate p...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Lin JA,Zhu H,Knickmeyer R,Styner M,Gilmore J,Ibrahim JG

    更新日期:2012-09-01 00:00:00

  • Testing the utility of mod scores and sib-pair analysis to detect presence of disease susceptibility loci.

    abstract::Linkage analyses and association studies were employed to detect disease susceptibility loci leading to elevated Q1 levels in Problem 2B. Phenotypes were defined to be the dichotomous affection status, the quantitative value for Q1, and Q1 adjusted for covariates. The method of mod-scores (for the dichotomous phenotyp...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Neuman RJ,Xian H

    更新日期:1997-01-01 00:00:00

  • The role of environmental heterogeneity in meta-analysis of gene-environment interactions with quantitative traits.

    abstract::With challenges in data harmonization and environmental heterogeneity across various data sources, meta-analysis of gene-environment interaction studies can often involve subtle statistical issues. In this paper, we study the effect of environmental covariate heterogeneity (within and between cohorts) on two approache...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Li S,Mukherjee B,Taylor JM,Rice KM,Wen X,Rice JD,Stringham HM,Boehnke M

    更新日期:2014-07-01 00:00:00

  • Major locus inheritance of apolipoprotein B in Utah pedigrees.

    abstract::A major locus that determines levels of apolipoprotein B (apoB) was revealed by likelihood analysis on 331 members of 36 pedigrees. The major locus explained 43.2% of the observed variance, with the remainder attributed to random environmental factors. Estimated mean apoB levels (mg/dl) were 110.5 +/- 2.5, 141.9 +/- 4...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Hasstedt SJ,Wu L,Williams RR

    更新日期:1987-01-01 00:00:00

  • Genetic association with multiple traits in the presence of population stratification.

    abstract::Testing association between a genetic marker and multiple-dependent traits is a challenging task when both binary and quantitative traits are involved. The inverted regression model is a convenient method, in which the traits are treated as predictors although the genetic marker is an ordinal response. It is known tha...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Yan T,Li Q,Li Y,Li Z,Zheng G

    更新日期:2013-09-01 00:00:00

  • Phenotype validation in electronic health records based genetic association studies.

    abstract::The linkage between electronic health records (EHRs) and genotype data makes it plausible to study the genetic susceptibility of a wide range of disease phenotypes. Despite that EHR-derived phenotype data are subjected to misclassification, it has been shown useful for discovering susceptible genes, particularly in th...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Wang L,Damrauer SM,Zhang H,Zhang AX,Xiao R,Moore JH,Chen J

    更新日期:2017-12-01 00:00:00