Abstract:
:The present findings for familial Alzheimer's disease suggest a possible linkage to gene(s) on chromosome 21 for the early onset form and to chromosome 19 for the late onset. Since these results are not unequivocal, possible alternative hypotheses include the effect of genetic heterogeneity or of an oligogenic model of segregation for FAD.
journal_name
Genet Epidemioljournal_title
Genetic epidemiologyauthors
Macciardi F,Cavallini MCdoi
10.1002/gepi.1370100618subject
Has Abstractpub_date
1993-01-01 00:00:00pages
437-41issue
6eissn
0741-0395issn
1098-2272journal_volume
10pub_type
杂志文章abstract::A robust approach for estimating standard errors of variance components by using quantitative phenotypes from families ascertained through a proband with an extreme phenotypic value is presented. Estimators that use the multivariate normal distribution as a "working likelihood" are obtained by computing conditional ln...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370040305
更新日期:1987-01-01 00:00:00
abstract::Different maximum likelihood approaches were used to explore the role of candidate genes in the variability of quantitative trait Q1 while accounting for the effects of age, Q2, and Q3. Segregation analysis, under the class D regressive model, provides evidence for a Mendelian gene effect on the adjusted trait Q1. Res...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370120643
更新日期:1995-01-01 00:00:00
abstract::The role of a gene in a disease may be hidden by the presence of another risk factor such as an environmental factor. In that case, stratifying the data according to this factor strengthens power to detect linkage or association. We followed this strategy on the simulated data provided by GAW11. The transmission/diseq...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370170788
更新日期:1999-01-01 00:00:00
abstract::Genome-wide association studies (GWAS) have identified many single nucleotide polymorphisms (SNPs) associated with complex traits. However, the genetic heritability of most of these traits remains unexplained. To help guide future studies, we address the crucial question of whether future GWAS can detect new SNP assoc...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21724
更新日期:2013-05-01 00:00:00
abstract::Logistic regression is the primary analysis tool for binary traits in genome-wide association studies (GWAS). Multinomial regression extends logistic regression to multiple categories. However, many phenotypes more naturally take ordered, discrete values. Examples include (a) subtypes defined from multiple sources of ...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22276
更新日期:2020-04-01 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::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::Power estimations are important for optimizing genotype-phenotype association study designs. However, existing frameworks are designed for common disorders, and thus ill-suited for the inherent challenges of studies for low-prevalence conditions such as rare diseases and infrequent adverse drug reactions. These challe...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22129
更新日期:2018-07-01 00:00:00
abstract::We present a range of modelling components designed to facilitate Bayesian analysis of genetic-association-study data. A key feature of our approach is the ability to combine different submodels together, almost arbitrarily, for dealing with the complexities of real data. In particular, we propose various techniques f...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20140
更新日期:2006-04-01 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::For many clinical studies in cancer, germline DNA is prospectively collected for the purpose of discovering or validating single-nucleotide polymorphisms (SNPs) associated with clinical outcomes. The primary clinical endpoint for many of these studies are time-to-event outcomes such as time of death or disease progres...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21645
更新日期:2012-09-01 00:00:00
abstract::Smalley et al. [(1992) Genet Epidemiol 9:333-345] found evidence of a mixture of two distributions in memory performance among offspring of patients with dementia of the Alzheimer type (DAT), suggesting that these groups reflect genotypic subgroups of carriers and non-carriers of a putative DAT gene. One prediction of...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370110506
更新日期:1994-01-01 00:00:00
abstract::We examined the power of the stepwise iterated generalized least squares (GLS) method by modeling the relationship between quantitative traits and other variables using the simulated data for Problem 2A. The comparison between the generating model provided by the workshop and the results of the stepwise iterated GLS m...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/(SICI)1098-2272(1997)14:6<797::AID-GEPI39>
更新日期:1997-01-01 00:00:00
abstract::Unaffected individuals are often disregarded in nonparametric linkage analysis. Because of the presumed high complexity of genetic interactions and the resulting low penetrance of any single genetic effect, the statistical contribution of unaffected sib pairs is thought to be considerably lower than that of the affect...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.2001.21.s1.s522
更新日期:2001-01-01 00:00:00
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
doi:10.1002/gepi.22101
更新日期:2018-03-01 00:00:00
abstract::Intended to resolve the problem of constructing a matched population-based control sample, haplotype relative risk techniques frequently suffer from loss of power for late-onset diseases due to unavailability of parental genotypes that are required to form parent-offspring pairs. However, much of this missing informat...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/(SICI)1098-2272(1998)15:5<471::AID-GEPI3>3
更新日期:1998-01-01 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::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
doi:10.1002/gepi.21890
更新日期:2015-07-01 00:00:00
abstract::The growing interest in detection of genetic effects for complex traits along with molecular revolution has stimulated many linkage studies. Multiple replication studies tend to produce different results. In such situations, rigorous meta-analysis methods can be useful for assessing the overall evidence for linkage. W...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/(SICI)1098-2272(1996)13:4<377::AID-GEPI6>3
更新日期:1996-01-01 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::For most complex diseases, the fraction of heritability that can be explained by the variants discovered from genome-wide association studies is minor. Although the so-called "rare variants" (minor allele frequency [MAF] < 1%) have attracted increasing attention, they are unlikely to account for much of the "missing h...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21740
更新日期:2013-09-01 00:00:00
abstract::Recent studies have found an association between presence of apolipoprotein E (APOE) epsilon 4 allele and Alzheimer's disease (AD). The present study compared the cumulative risk of primary progressive dementia (PPD) in relatives of AD probands carrying at least one copy of the epsilon 4 allele with the relatives of A...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/(SICI)1098-2272(1996)13:3<285::AID-GEPI5>3
更新日期:1996-01-01 00:00:00
abstract::The participants of Presentation Group 18 of Genetic Analysis Workshop 14 analyzed the Collaborative Study on the Genetics of Alcoholism data set to investigate sex-specific effects for phenotypes related to alcohol dependence. In particular, the participants looked at imprinting (which is also known as parent-of-orig...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20121
更新日期:2005-01-01 00:00:00
abstract::Copper incorporation studies were performed on individuals from 58 pedigrees, comprising 140 sibships. As previously reported, there is considerable overlap between heterozygotes and normal homozygotes. Segregation analysis supports recessive inheritance of disease, with residual heritability for 64Cu uptake in cultur...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370030403
更新日期:1986-01-01 00:00:00
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) wh...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/(SICI)1098-2272(1997)14:1<35::AID-GEPI3>3.
更新日期:1997-01-01 00:00:00
abstract::Grade of membership analysis (GoM) may have particular relevance for genetic epidemiology. The method can flexibly relate genetic markers, clinical features, and environmental exposures to possible subtypes of disease termed pure types even when population allele frequencies and penetrance functions are not known. Hen...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370100628
更新日期:1993-01-01 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::Jewish women have been reported to have a higher risk for familial breast cancer than non-Jewish women and to be more likely to carry mutations in breast cancer genes such as BRCA1. Because BRCA1 mutations also increase women's risk for ovarian cancer, we asked whether Jewish women are at higher risk for familial ovar...
journal_title:Genetic epidemiology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1002/(SICI)1098-2272(1998)15:1<51::AID-GEPI4>3.
更新日期:1998-01-01 00:00:00
abstract::Linkage analysis of complex traits has had limited success in identifying trait-influencing loci. Recently, coding variants have been implicated as the basis for some biomedical associations. We tested whether coding variants are the basis for linkage peaks of complex traits in 42 African-American (n = 596) and 90 His...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21801
更新日期:2014-05-01 00:00:00
abstract::Various statistical methods have been proposed to evaluate associations between measured genetic variants and disease, including some using family designs. For breast cancer and rare variants, we applied a modified segregation analysis method that uses the population cancer incidence and population-based case families...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.10222
更新日期:2003-04-01 00:00:00