Abstract:
:Regressive models that incorporate measured variables and assumed genetic parameters were used to detect interactions between gene, research site, and environmental variables in GAW11 Problem 2. Replicates 1 to 5 were used in the analyses. Significant three-way gene x environment x site interactions were seen for all models, regardless of what assumptions were made about genetic transmission. Therefore, regressive models within each of the four sites were examined for significant gene x environment interactions. At one site, there was a pattern of gene x environment interaction that was consistent in most of the genetic models assumed. Joint and separate segregation and linkage analyses were compared in this site. No patterns of gene x environment interaction were seen in the other sites. Results from this analysis show that regressive modeling can identify complex interactions in data from heterogeneous populations even when ascertainment assumptions are violated.
journal_name
Genet Epidemioljournal_title
Genetic epidemiologyauthors
Shin J,Corey Mdoi
10.1002/gepi.13701707118subject
Has Abstractpub_date
1999-01-01 00:00:00pages
S721-6eissn
0741-0395issn
1098-2272journal_volume
17 Suppl 1pub_type
杂志文章abstract::The purpose of this commentary is to provide a framework for using the well-known sib-pair methodology in the context of epidemiologic study designs. Using examples from the Pittsburgh family studies of insulin-dependent diabetes mellitus, we illustrate that the sib-pair method can be used in family-based epidemiologi...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370080408
更新日期:1991-01-01 00:00:00
abstract::There is a growing recognition that gene-environment interaction (G × E) plays a pivotal role in the development and progression of complex diseases. Despite a wealth of genetic data on various complex diseases/traits generated from association and sequencing studies, detecting G × E via genome-wide analysis remains c...
journal_title:Genetic epidemiology
pub_type: 杂志文章,meta分析
doi:10.1002/gepi.22115
更新日期:2018-07-01 00:00:00
abstract::In this study, we compare the statistical properties of a number of methods for estimating P-values for allele-sharing statistics in non-parametric linkage analysis. Some of the methods are based on the normality assumption, using different variance estimation methods, and others use simulation (gene-dropping) to find...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20177
更新日期:2006-12-01 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::We examined the inheritance of juvenile myoclonic epilepsy (JME). We looked at both the trait of "epilepsy" and the trait of "epilepsy-plus-EEG abnormalities," since EEG abnormalities are frequently found in the clinically unaffected sibs of JME patients. We tested several modes of inheritance including the fully pene...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370050204
更新日期:1988-01-01 00:00:00
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
doi:10.1002/gepi.22363
更新日期:2020-09-30 00:00:00
abstract::Due to the drop in sequencing cost, the number of sequenced genomes is increasing rapidly. To improve power of rare-variant tests, these sequenced samples could be used as external control samples in addition to control samples from the study itself. However, when using external controls, possible batch effects due to...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22057
更新日期:2017-11-01 00:00:00
abstract::There has been a great interest and a few successes in the identification of complex disease susceptibility genes in recent years. Association studies, where a large number of single-nucleotide polymorphisms (SNPs) are typed in a sample of cases and controls to determine which genes are associated with a specific dise...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20041
更新日期:2005-02-01 00:00:00
abstract::Path analysis of nuclear family data has been widely applied to resolve genetic and environmental sources of familial resemblance. Here we report the results of a systematic evaluation of the effects of departures from five modeling assumptions often made when analyzing nuclear family data; i) the observed environment...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370060207
更新日期:1989-01-01 00:00:00
abstract::This paper discusses the theory and implementation of a model for mapping X-linked quantitative trait loci (QTL). As a result of X inactivation, a female's body is subdivided into a number of patches. In each patch one of her two X chromosomes is randomly switched off. This smooths the allelic contributions in a heter...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20158
更新日期:2006-07-01 00:00:00
abstract::We investigate the relevance of the genetic determination of bone mineral density (BMD) variation to that of differential risk to osteoporotic fractures (OF). The high heritability (h(2)) of BMD and the significant phenotypic correlations between high BMD and low risk to OF are well known. Little is reported on h(2) f...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1040
更新日期:2002-01-01 00:00:00
abstract::Mantel statistics provide an additional step to standard approaches in the analysis of gene expression and covariate data, allow the calculation of standard statistics such as correlation, partial correlation, and regression coefficients, and, with permutation tests, provide P values for these statistics to relate the...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1115
更新日期:2002-06-01 00:00:00
abstract::Several statistical tests for linkage between a disease susceptibility locus and a marker locus for sib-pair data are examined analytically. Two common statistics, a test based on the mean number of marker alleles shared identical by descent by sib-pairs, and a test based on the proportion of sib-pairs sharing exactly...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370070506
更新日期:1990-01-01 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::The univariate analysis of categorical twin data can be performed using either structural equation modeling (SEM) or logistic regression. This paper presents a comparison between these two methods using a simulation study. Dichotomous and ordinal (three category) twin data are simulated under two different sample size...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/(SICI)1098-2272(1996)13:1<79::AID-GEPI7>3.
更新日期:1996-01-01 00:00:00
abstract::Rheumatoid arthritis is an inflammatory disease for which positive associations have been described with some HLA-DRB1 alleles. The associated alleles share a similar amino acid sequence in the third hypervariable region, the shared epitope, but differ at position 71 and 86. It has been suggested that HLA susceptibili...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/1098-2272(200012)19:4<422::AID-GEPI12>3.0.
更新日期:2000-12-01 00:00:00
abstract::This report investigates the power issue in applying the non-parametric linkage analysis of affected sib-pairs (ASP) [Kruglyak and Lander, 1995: Am J Hum Genet 57:439-454] to localize genes that contribute to human longevity using long-lived sib-pairs. Data were simulated by introducing a recently developed statistica...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.10304
更新日期:2004-04-01 00:00:00
abstract::The genotypes of individuals in replicate genetic association studies have some level of correlation due to shared descent in the complete pedigree of all living humans. As a result of this genealogical sharing, replicate studies that search for genotype-phenotype associations using linkage disequilibrium between mark...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20400
更新日期:2009-09-01 00:00:00
abstract::Genetic Analysis Workshop 17 (GAW17) focused on the transition from genome-wide association study designs and methods to the study designs and statistical genetic methods that will be required for the analysis of next-generation sequence data including both common and rare sequence variants. In the 166 contributions t...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20659
更新日期:2011-01-01 00:00:00
abstract::One approach to establish linkage is based on allele-sharing methods for sib pairs. Recently, the use of extreme sib pairs (ESP) has been proposed to increase power for mapping quantitative traits in humans. Several approaches have been discussed. In this study, we calculate sample sizes for the various ESP approaches...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/(SICI)1098-2272(1998)15:6<577::AID-GEPI3>3
更新日期:1998-01-01 00:00:00
abstract::We have conducted a simulation study in small pedigrees to investigate the power to detect linkage and heterogeneity for a disorder due to either one of two independent disease loci. We have considered a highly polymorphic marker locus (PIC = 70%) linked to one disease locus and unlinked to the second. The power to de...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370070306
更新日期:1990-01-01 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
abstract::Advances in high throughput technology have enabled the generation of unprecedented amounts of genomic data (e.g., next-generation sequence data, transcriptomics, metabolomics, and proteomics), which promises to unravel the genetic architecture of complex traits. These discoveries may lead to novel therapeutic targets...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21768
更新日期:2013-12-01 00:00:00
abstract::Haplotype sharing analysis is a well-established option for the investigation of the etiology of complex diseases. The statistical power of haplotype association methods depends strongly on how the information of unobserved haplotypes can be captured by multilocus genotypes. In this study we combine an entropy-based m...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20491
更新日期:2010-05-01 00:00:00
abstract::alpha 1-antitrypsin (alpha 1 AT) deficiency is variably associated with the development of pulmonary emphysema. To gain insight into the process which begins the Z point mutation at the Protease Inhibitor (Pi) locus and results in the variable development of emphysema, three quantitative phenotypes, including total al...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370070204
更新日期:1990-01-01 00:00:00
abstract::Investigators interested in whether a disease aggregates in families often collect case-control family data, which consist of disease status and covariate information for members of families selected via case or control probands. Here, we focus on the use of case-control family data to investigate the relative contrib...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20454
更新日期:2010-04-01 00:00:00
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
doi:10.1002/gepi.21661
更新日期:2012-09-01 00:00:00
abstract::The availability of high-density haplotype data has motivated several fine-scale linkage disequilibrium mapping methods for locating disease-causing mutations. These methods identify loci around which haplotypes of case chromosomes exhibit greater similarity than do those of control chromosomes. A difficulty arising i...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20016
更新日期:2004-11-01 00:00:00
abstract::The recurrence risks for an X-linked disease with incomplete penetrance are evaluated for a sib given that an isolated proband (male or female) is affected. The derived formulae are applied to the X-linked form of Alport and fragile X syndromes. ...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370030508
更新日期:1986-01-01 00:00:00
abstract::This paper summarizes the analyses by participants in the insulin-dependent diabetes mellitus (IDDM) component of Genetic Analysis Workshop 5 (GAW5). The data were obtained from 94 families with two or more IDDM sibs. Topics treated in the Workshop analysis included the following: methods for detecting associations an...
journal_title:Genetic epidemiology
pub_type: 杂志文章,评审
doi:10.1002/gepi.1370060111
更新日期:1989-01-01 00:00:00