Abstract:
:To better understand the contribution of major gene influences to individual differences in cardiovascular reactivity, we performed a segregation analysis on blood pressure responses to two laboratory tasks, mental arithmetic and bicycle exercise. The study population consisted of 1,451 adults (age > or = 18 years) who were members of 81 Utah pedigrees. Only 864 members performed the bicycle task because persons age 60 years or older or with heart disease were excluded. Blood pressure reactivity to mental arithmetic was defined as change from resting values, and reactivity to the bicycle task was defined as the difference between maximum blood pressure during exercise and resting values adjusted for the individual's workload. Complex segregation analysis and likelihood procedures were used to test for a major gene effect controlling blood pressure reactivity to each task. Two modifiers of the penetrance, age and sex, were considered parameters in these models. We found that diastolic blood pressure (DBP) but not systolic blood pressure reactivities to the mental arithmetic and bicycle exercise tasks were controlled by major gene effects. The best-fitting model, however, differed for the two tasks. For DBP reactivity to mental arithmetic, a major codominant model with gene frequency 0.10 was the best-fitting model; for the bicycle task, the best-fitting model was a mixed recessive model with gene frequency 0.21. Sex differences in DBP reactivity were significant in both tasks: the effect of age was significant only for the mental arithmetic task. These results suggest a significant genetic component for DBP reactivity to laboratory stressors.
journal_name
Genet Epidemioljournal_title
Genetic epidemiologyauthors
Cheng LS,Carmelli D,Hunt SC,Williams RRdoi
10.1002/(SICI)1098-2272(1997)14:1<35::AID-GEPI3>3.subject
Has Abstractpub_date
1997-01-01 00:00:00pages
35-49issue
1eissn
0741-0395issn
1098-2272pii
10.1002/(SICI)1098-2272(1997)14:1<35::AID-GEPI3>3.journal_volume
14pub_type
杂志文章abstract::We propose a new approach to detect gene × gene joint action in genome-wide association studies (GWASs) for case-control designs. This approach offers an exhaustive search for all two-way joint action (including, as a special case, single gene action) that is computationally feasible at the genome-wide level and has r...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21779
更新日期:2014-01-01 00:00:00
abstract::HLA-A, -B, -C, -DR, and -DQ typings of the Schmiedeleut Hutterites of South Dakota were collected as part of an ongoing genetic-epidemiologic study of HLA and fertility. A total of 1,082 individuals, including 852 married adults representative of the reproductive population of this isolate, were characterized for five...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370120106
更新日期:1995-01-01 00:00:00
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
doi:10.1002/gepi.21949
更新日期:2016-02-01 00:00:00
abstract::A computer-simulation method is presented for determining and correcting for the effect of maximizing the lod score over disease definitions, penetrance values, and perhaps other model parameters. The method consists of simulating the complete analysis using marker genotypes randomly generated under the assumption of ...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370070402
更新日期:1990-01-01 00:00:00
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
doi:10.1002/gepi.22330
更新日期:2020-10-01 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
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::In the past decade, many genome-wide association studies (GWASs) have been conducted to explore association of single nucleotide polymorphisms (SNPs) with complex diseases using a case-control design. These GWASs not only collect information on the disease status (primary phenotype, D) and the SNPs (genotypes, X), but...
journal_title:Genetic epidemiology
pub_type: 杂志文章,随机对照试验
doi:10.1002/gepi.22045
更新日期:2017-07-01 00:00:00
abstract::Genes with imprinting (parent-of-origin) effects express differently when inheriting from the mother or from the father. Some genes for development and behavior in mammals are known to be imprinted. We developed parametric linkage analysis that accounts for imprinting effects for continuous traits, implementing it in ...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20321
更新日期:2008-07-01 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::This paper describes a general genetic model which encompasses both autosomal and X-linked inheritance as submodels. It allows one to test for X-linked inheritance of a trait by comparing the likelihood of X-linked inheritance to the likelihood of the general genetic model. The general model is formulated as two loci,...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370010105
更新日期:1984-01-01 00:00:00
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
doi:10.1002/gepi.20006
更新日期:2004-09-01 00:00:00
abstract::Twin pairs are sometimes included in studies because at least one of them is a proband, and conventionally the analysis of the data is based on the conditional distribution of the co twin given the proband. In the case of more than one proband in each pair, an often used "ad hoc" method of analysis is to allow each tw...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.10253
更新日期:2003-11-01 00:00:00
abstract::The purpose of the current study was to utilize the Genetic Analysis Workshop 12 simulated data to evaluate fine-mapping strategies for quantitative traits. We approached the analysis as if it was a follow-up to a genome scan that had identified two regions of interest and used the provided 1-cM density microsatellite...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.2001.21.s1.s467
更新日期:2001-01-01 00:00:00
abstract::There has been extensive literature on modeling gene-gene interaction (GGI) and gene-environment interaction (GEI) in case-control studies with limited literature on statistical methods for GGI and GEI in longitudinal cohort studies. We borrow ideas from the classical two-way analysis of variance literature to address...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21744
更新日期:2013-09-01 00:00:00
abstract::This study is an investigation of the relationship between apolipoprotein E (apoE) phenotype, arterial disease, and mortality in a group of women (n = 1,751) aged 65 years and older enrolled in the Study of Osteoporotic Fractures. Crude mortality rates were highest among women with the 4-3 and 4-4 phenotypes but age-a...
journal_title:Genetic epidemiology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1002/(SICI)1098-2272(1997)14:2<147::AID-GEPI4>3
更新日期:1997-01-01 00:00:00
abstract::We analyzed the GAW11 data on alcoholism provided by the Collaborative Study on the Genetics of Alcoholism (COGA) using an extension of a new test of linkage and association for quantitative traits developed by George et al. [1999]. This method determines linkage between marker loci and quantitative traits, when allel...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370170758
更新日期:1999-01-01 00:00:00
abstract::Over the past few years, an increasing number of studies have identified rare variants that contribute to trait heritability. Due to the extreme rarity of some individual variants, gene-based association tests have been proposed to aggregate the genetic variants within a gene, pathway, or specific genomic region as op...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22081
更新日期:2017-12-01 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::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 purpose of this work is the development of linear trend tests that allow for error (LTT ae), specifically incorporating double-sampling information on phenotypes and/or genotypes. We use a likelihood framework. Misclassification errors are estimated via double sampling. Unbiased estimates of penetrances and genoty...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20246
更新日期:2007-12-01 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::Linkage disequilibrium mapping of quantitative traits is a powerful method for dissecting the genetic etiology of complex phenotypes. Quantitative traits, however, often exhibit characteristics that make their use problematic. For example, the distribution of the trait may be censored, highly skewed, or contaminated w...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20141
更新日期:2006-04-01 00:00:00
abstract::The study of the genetic component of early-onset diseases requires investigation into parental genetic effects, particularly those mediated by the mother who can influence the offspring's risk of disease through the effects of her genes acting directly on the intrauterine milieu or indirectly through maternal-gene ch...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20602
更新日期:2011-09-01 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::Site-specific familial aggregation and evidence supporting Mendelian codominant inheritance have been shown in lung cancer. In characterizing lung cancer families, a number of other cancers have been observed. The current study evaluates whether first-degree relatives of early onset lung cancer cases are at increased ...
journal_title:Genetic epidemiology
pub_type: 临床试验,杂志文章
doi:10.1002/(SICI)1098-2272(199911)17:4<274::AID-GEPI3
更新日期:1999-11-01 00:00:00
abstract::Lander and Kruglyak [1995] gave guidelines for interpreting linkage results based on estimating how often a particular threshold for significance would be exceeded by chance in a single genome scan. What is unknown is how often two or more genome scans would exceed a particular threshold within the same region. We dev...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370170778
更新日期:1999-01-01 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::Multipoint linkage analysis using sibpair designs remains a common approach to help investigators to narrow chromosomal regions for traits (either qualitative or quantitative) of interest. Despite its popularity, the success of this approach depends heavily on how issues such as genetic heterogeneity, gene-gene, and g...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20036
更新日期:2005-01-01 00:00:00
abstract::We used data from a population based series of breast cancer patients to investigate the genetic models that can best explain familial breast cancer not due to the BRCA1 and BRCA2 genes. The data set consisted of 1,484 women diagnosed with breast cancer under age 55 registered in the East Anglia Cancer registry betwee...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1014
更新日期:2001-07-01 00:00:00