Abstract:
: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.
journal_name
Genet Epidemioljournal_title
Genetic epidemiologyauthors
Khoury MJ,Beaty TH,Cohen BHdoi
10.1002/gepi.1370100505subject
Has Abstractpub_date
1993-01-01 00:00:00pages
321-9issue
5eissn
0741-0395issn
1098-2272journal_volume
10pub_type
杂志文章abstract::When many correlated traits are measured the potential exists to discover the coordinated control of these traits via genotyped polymorphisms. A common statistical approach to this problem involves assessing the relationship between each phenotype and each single nucleotide polymorphism (SNP) individually (PHN); and t...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20257
更新日期:2008-01-01 00:00:00
abstract::The aim of this paper is to generalize permutation methods for multiple testing adjustment of significant partial regression coefficients in a linear regression model used for microarray data. Using a permutation method outlined by Anderson and Legendre [1999] and the permutation P-value adjustment from Simon et al. [...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20255
更新日期:2008-01-01 00:00:00
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
doi:10.1002/gepi.20626
更新日期:2011-12-01 00:00:00
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
pub_type:
doi:10.1002/gepi.20465
更新日期:2009-01-01 00:00:00
abstract::In the last two decades, complex traits have become the main focus of genetic studies. The hypothesis that both rare and common variants are associated with complex traits is increasingly being discussed. Family-based association studies using relatively large pedigrees are suitable for both rare and common variant id...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21844
更新日期:2014-11-01 00:00:00
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
doi:10.1002/gepi.20165
更新日期:2006-09-01 00:00:00
abstract::Polygenic risk scores (PRSs) are a method to summarize the additive trait variance captured by a set of SNPs, and can increase the power of set-based analyses by leveraging public genome-wide association study (GWAS) datasets. PRS aims to assess the genetic liability to some phenotype on the basis of polygenic risk fo...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22117
更新日期:2018-06-01 00:00:00
abstract::The etiology of complex traits likely involves the effects of genetic and environmental factors, along with complicated interaction effects between them. Consequently, there has been interest in applying genetic association tests of complex traits that account for potential modification of the genetic effect in the pr...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21901
更新日期:2015-07-01 00:00:00
abstract::Understanding the genetic background of complex diseases and disorders plays an essential role in the promising precision medicine. The evaluation of candidate genes, however, requires time-consuming and expensive experiments given a large number of possibilities. Thus, computational methods have seen increasing appli...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22282
更新日期:2020-06-01 00:00:00
abstract::Using the Genetic Analysis Workshop 12 simulated data, we contrasted results for association tests in nuclear families and extended pedigrees using single-nucleotide polymorphism (SNP) data, and we compared results for different trait definitions, for outbred and isolate populations, and for SNP and microsatellite dat...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.2001.21.s1.s364
更新日期:2001-01-01 00:00:00
abstract::The complex etiology of common diseases like cardiovascular disease, diabetes, hypertension, and rheumatoid arthritis has led investigators to focus on the genetics of correlated phenotypes and risk factors. Joint analysis of multiple disease-related phenotypes may reveal genes of pleiotropic effect and increase analy...
journal_title:Genetic epidemiology
pub_type:
doi:10.1002/gepi.20470
更新日期:2009-01-01 00:00:00
abstract::Emerging evidence suggests that a genetic variant can affect multiple phenotypes, especially in complex human diseases. Therefore, joint analysis of multiple phenotypes may offer new insights into disease etiology. Recently, many statistical methods have been developed for joint analysis of multiple phenotypes, includ...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22263
更新日期:2020-01-01 00:00:00
abstract::Using a recently developed semiparametric method for combined linkage/linkage-disequilibrium analysis, we analyzed the Collaborative Study on the Genetics of Alcoholism data subset developed for Genetic Analysis Workshop 11 (GAW11). This semiparametric approach estimates recombination fractions for linkage, marker log...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370170708
更新日期:1999-01-01 00:00:00
abstract::We address the analytical problem of evaluating the evidence for linkage at a test locus while taking into account the effect of a known linked disease locus. The method we propose is a multimarker regression approach that models the identity-by-descent states for affected sib-pairs at a series of linked markers in te...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20137
更新日期:2006-04-01 00:00:00
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
doi:10.1002/gepi.21641
更新日期:2012-07-01 00:00:00
abstract::We have used the unblinded MG1/Q1 Genetic Analysis Workshop 12 simulated data as a model system for investigating the use of linkage disequilibrium structure and simple genotype-phenotype associations to identify candidate functional mutations within a gene of interest. Analysis of the pattern of pairwise linkage dise...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.2001.21.s1.s620
更新日期:2001-01-01 00:00:00
abstract::Case-only studies are often used to identify interactions between a genetic factor and an environmental factor under the assumption both factors are independent in the population. However, interpreting a statistical association between the genetic and the environmental factors among the cases, as evidence of a mechani...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20484
更新日期:2010-05-01 00:00:00
abstract::We investigated the utility of two approaches for exploiting pleiotropy to search for genes influencing related traits. To do this we first assessed the genetic correlations among a set of five closely related quantitative traits (Q1, Q2, Q3, Q4, Q5). We then used the genetic correlations among these five traits both ...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/(SICI)1098-2272(1997)14:6<975::AID-GEPI69>
更新日期:1997-01-01 00:00:00
abstract::We have analyzed the GAW10 data from several studies of bipolar affective disorder (BPAD) using the software packages SimIBD and SIMWALK2. SimIBD implements a simulation-based affected-pedigree-member (APM) statistic, called SimAPM, as well as an APM-like statistic, also called SimIBD, that measures identical-by-desce...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/(SICI)1098-2272(1997)14:6<605::AID-GEPI9>3
更新日期:1997-01-01 00:00:00
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
doi:10.1002/gepi.22326
更新日期:2020-09-01 00:00:00
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
doi:10.1002/gepi.2001.21.s1.s103
更新日期:2001-01-01 00:00:00
abstract::Genome-wide association (GWA) studies have proved extremely successful in identifying novel genetic loci contributing effects to complex human diseases. In doing so, they have highlighted the fact that many potential loci of modest effect remain undetected, partly due to the need for samples consisting of many thousan...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20482
更新日期:2010-05-01 00:00:00
abstract::In this paper we investigate the power to identify gene x gene interactions in genome-wide association studies. In our analysis we focus on two-stage analyses: analyses in which we only test for interactions between single nucleotide polymorphisms that show some marginal effect. We give two algorithms to compute signi...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20300
更新日期:2008-04-01 00:00:00
abstract::Cancer has predominant environmental and somatic causes but the assessment of hereditary (genetic) causes is difficult, except for highly penetrant single-gene causes. Family studies are only partially informative in this regard because family members share diet and life-styles. Twin studies have been classically used...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/1098-2272(200101)20:1<107::AID-GEPI9>3.0.C
更新日期:2001-01-01 00:00:00
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
doi:10.1002/gepi.21738
更新日期:2013-09-01 00:00:00
abstract::Inaccurate genetic (or linkage) maps can reduce the power to detect linkage, increase type I error, and distort haplotype and relationship inference. To improve the accuracy of existing maps, I propose a meta-analysis-based method that combines independent map estimates into a single estimate of the linkage map. The m...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20221
更新日期:2007-07-01 00:00:00
abstract::Our goal was to detect genes contributing to the P300 component of the event related potential (ERP). We found that all of the ERP traits were highly correlated. Most of them distinguished alcoholics from nonalcoholics. To have one summary variable for the ERP traits, we calculated the first principal component (PRIN1...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370170728
更新日期:1999-01-01 00:00:00
abstract::The results of classical segregation analysis on 159 families with polycystic kidney disease (PKD) are presented. It had been previously estimated that about 95% of autosomal dominant PKD (ADPKD) families have PKD1, the gene localized to chromosome 16p. The main purpose of the study was to determine if PKD shows any s...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370100305
更新日期:1993-01-01 00:00:00
abstract::The aim of this paper is to develop a functional-mixed effects modeling (FMEM) framework for the joint analysis of high-dimensional imaging data in a large number of locations (called voxels) of a three-dimensional volume with a set of genetic markers and clinical covariates. Our FMEM is extremely useful for efficient...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21854
更新日期:2014-12-01 00:00:00
abstract::Results of studies for the association of BRCA1 genotypes and haplotypes with sporadic breast cancer have been inconsistent. Therefore, a candidate single nucleotide polymorphism (SNP) approach was used in a breast cancer case-control study to explore genotypes and haplotypes that have the potential to affect protein ...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21730
更新日期:2013-07-01 00:00:00