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 feasible. Probands in our sample were eligible for inclusion in the sample if they were white, were age 16 years or older, and carried a research diagnosis of schizophrenia. Family data are reported for 258 probands. Using the most stringent category of affected (RDC schizophrenia) revealed ten families with two or more affected sibs. The broadest category of affected (any psychotic disorder or psychiatric hospitalization) identified only 36 families with two or more affected sibs. We conclude that, if schizophrenia is a heterogeneous disorder with decreased penetrance, an effort to collect multiplex nuclear families is unlikely to provide enough data to identify genetic linkage. Alternatively, an effort to seek out and collect larger multiplex, multigenerational families rather than a collection of affected sib pairs may be more efficacious.
journal_name
Genet Epidemioljournal_title
Genetic epidemiologyauthors
Pulver AE,Bale SJdoi
10.1002/gepi.1370060604subject
Has Abstractpub_date
1989-01-01 00:00:00pages
671-80issue
6eissn
0741-0395issn
1098-2272journal_volume
6pub_type
杂志文章abstract::A highly significant familial aggregation of eosinophil levels (X2(3) = 38.00) was detected in a sample from three Brazilian populations with a high incidence of helminthic parasitism. The data were unable to resolve genetic or common environment causation due to the lack of environmental concomitant variables. Result...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370090305
更新日期:1992-01-01 00:00:00
abstract::The extended transmission disequilibrium test (ETDT) of Sham and Curtis [1995] is a powerful test of the null hypothesis of no linkage between a multi-allelic marker locus and a disease susceptibility locus of unknown location in the presence of association between alleles at the two loci. We propose a generalization ...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.13701707108
更新日期:1999-01-01 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::High-throughput sequencing data can be used to predict phenotypes from genotypes, and this corresponds to establishing a prognostic model. In extended pedigrees the relatedness of subjects provides additional information so that genetic values, fixed or random genetic components, and heritability can be estimated. At ...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21826
更新日期:2014-09-01 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::Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a disorder that has an elevated frequency in Saguenay-Lac-St-Jean (SLSJ) and Charlevoix, two geographically isolated regions in the past of northeastern Quebec. The incidence at birth and the carrier rate in SLSJ were estimated at 1/1,932 liveborn i...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370100103
更新日期:1993-01-01 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::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::Imputation is widely used for obtaining information about rare variants. However, one issue concerning imputation is the low accuracy of imputed rare variants as the inaccurate imputed rare variants may distort the results of region-based association tests. Therefore, we developed a pre-collapsing imputation method (P...
journal_title:Genetic epidemiology
pub_type: 杂志文章,多中心研究
doi:10.1002/gepi.22020
更新日期:2017-01-01 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::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
doi:10.1002/gepi.1370040202
更新日期:1987-01-01 00:00:00
abstract::In case-control genetic association studies, the robust procedure, Pearson's Chi-square test, is commonly used for testing association between disease status and genetic markers. However, this test does not take the possible trend of relative risks, which are due to genotype, into account. On the contrary, although Co...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20615
更新日期:2011-11-01 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::Recent advances in the molecular basis of body fat regulation have identified several genes in which genetic variation may influence obesity and related measures in human populations. Genes that have been shown to have a regulatory function in the control of body fat utilization, eating behavior, and/or metabolic rate...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/(SICI)1098-2272(1999)16:4<397::AID-GEPI6>3
更新日期:1999-01-01 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::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::The 4 allele of apolipoprotein E (APOE) is associated with increased risk of two major causes of death in low-mortality populations: ischemic heart disease and Alzheimer's disease. It is less common among centenarians than at younger ages. Therefore, it is likely that it is associated with excess risk of death. This a...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.0164
更新日期:2002-02-01 00:00:00
abstract::Genetic studies are continuing to generate volumes and variety of data that can be used to examine the genetic effects. Often the effect of a genetic variant varies by nongenetic measures, what is traditionally defined as gene-environment interaction (G×E). If the G×E term is neglected, estimates of the main effects c...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22154
更新日期:2018-12-01 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::A dense set of 5,000 SNPs on a 10-Mb region of human chromosome 20 has been typed on samples of African Americans, East Asians, and United Kingdom Caucasians. There are departures from Hardy-Weinberg equilibrium beyond the level at which markers are often discarded because of possible genotyping errors. The observatio...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20038
更新日期:2004-12-01 00:00:00
abstract::In traits suspected to be governed by at least two loci, linkage analysis incorporating the joint action of both loci may improve the power to detect linkage, increase the precision of estimating locus positions and provide insight into the underlying etiological mechanism. Recently, we mapped two susceptibility loci ...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20190
更新日期:2007-01-01 00:00:00
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
doi:10.1002/gepi.22030
更新日期:2017-04-01 00:00:00
abstract::DNA methylation is an important epigenetic mechanism that has been linked to complex diseases and is of great interest to researchers as a potential link between genome, environment, and disease. As the scale of DNA methylation association studies approaches that of genome-wide association studies, issues such as popu...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21789
更新日期:2014-04-01 00:00:00
abstract::Complex diseases are presumed to be the results of interactions of several genes and environmental factors, with each gene only having a small effect on the disease. Thus, the methods that can account for gene-gene interactions to search for a set of marker loci in different genes or across genome and to analyze these...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20304
更新日期:2008-05-01 00:00:00
abstract::The transmission disequilibrium test (TDT), originally developed for mapping disease genes, has recently been extended to identify quantitative trait loci (QTL). For quantitative traits important for human health, generally multiple QTLs are involved. In the investigation of the statistical properties of the TDT, back...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1032
更新日期:2001-11-01 00:00:00
abstract::With new technologies, multiple types of genomic data are commonly collected on a single set of samples. However, standard analysis methods concentrate on a single data type at a time and ignore the relationships between genes, proteins, and biochemical reactions that give rise to complex phenotypes. In this paper, we...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21628
更新日期:2012-05-01 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::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
doi:10.1002/(SICI)1098-2272(1997)14:6<1035::AID-GEPI79
更新日期:1997-01-01 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::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