Abstract:
:A method is described for estimating excess relative risks of a disease from familial factors. Beginning with population-based series of cases and controls, a cohort of each subject's relatives is formed and checked for disease against a population based registry. The disease experience of the cohort formed from each subject's relatives is summarized as a kinship-weighted familial standardized incidence ratio (FSIR). The FSIR's are used as exposure estimates in conditional linear excess relative risk models, which may be used not only to screen for significant familial disease aggregations, but also to estimate relative risks, population attributable risks, and gene-environment interactions. The method is demonstrated on 4083 breast cancer cases from Utah and a set of matched controls.
journal_name
Genet Epidemioljournal_title
Genetic epidemiologyauthors
Kerber RAdoi
10.1002/gepi.1370120306subject
Has Abstractpub_date
1995-01-01 00:00:00pages
291-301issue
3eissn
0741-0395issn
1098-2272journal_volume
12pub_type
杂志文章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::The asymptotic distribution of [MOD] scores under the null hypothesis of no linkage is only known for affected sib pairs and other types of affected relative pairs. We have extended the GENEHUNTER-MODSCORE program to allow for simulations under the null hypothesis of no linkage to determine the empirical significance ...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20264
更新日期:2008-01-01 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::GAW10 Problem 2 involves a simulated common disease defined by imposing a threshold, T, on a quantitative trait, Q1. Every individual with a value of Q1 > or = T (where T = 40) is defined as affected. Also thought to be associated with the disease as intervening variables are four other quantitative traits (Q2, Q3, Q4...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/(SICI)1098-2272(1997)14:6<737::AID-GEPI29>
更新日期:1997-01-01 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::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::Haplotype-sharing was examined in sets of affected siblings in the Breast Cancer Linkage Consortium pedigrees [Easton et al., 1993], using both identity-by-descent and identity-by-state methods. Linkage of the disease susceptibility locus to markers on chromosome 17 was confirmed. Substantial genetic heterogeneity was...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370120653
更新日期:1995-01-01 00:00:00
abstract::In the genotyped-proband design, a proband is selected based on an observed phenotype, the genotype of the proband is observed, and then the phenotypes of all first-degree relatives are obtained. The genotypes of these first-degree relatives are not observed. Gail et al. [(1999) Genet Epidemiol] discuss likelihood ana...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/(SICI)1098-2272(200004)18:4<293::AID-GEPI3
更新日期:2000-04-01 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::The Framingham Heart Study data, as well as a related simulated data set, were generously provided to the participants of the Genetic Analysis Workshop 13 in order that newly developed and emerging statistical methodologies could be tested on that well-characterized data set. The impetus driving the development of nov...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.10285
更新日期:2003-01-01 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::Atopic disease is generally recognized to be familial, although specific genetic components have yet to be identified. High levels of a unique class of immunoglobulins, immunoglobulin E (IgE), have been shown to be associated with allergies. Several investigators have reported evidence indicating a recessive regulator...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370020402
更新日期:1985-01-01 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::Contributions to Group 17 of the Genetic Analysis Workshop 15 considered dense markers in linkage disequilibrium (LD) in the context of either linkage or association analysis. Three contributions reported on methods for modeling LD or selecting a subset of markers in linkage equilibrium to perform linkage analysis. Wh...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20291
更新日期:2007-01-01 00:00:00
abstract::Genetic association studies of obstetric complications may genotype case and control mothers, or their respective newborns, or both case-control mothers and their children. The relatively high prevalence of many obstetric complications and the availability of both maternal and offspring's genotype data have provided m...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20406
更新日期:2009-09-01 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::Family-based designs enriched with affected subjects and disease associated variants can increase statistical power for identifying functional rare variants. However, few rare variant analysis approaches are available for time-to-event traits in family designs and none of them applicable to the X chromosome. We develo...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22054
更新日期:2017-09-01 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::A family cancer database was constructed from the nationwide Swedish registries and includes approximately 6 million persons and >30,000 cancers in offspring diagnosed at ages 15-51 years and their parents. A particular advantage of the database is that the contribution of both parental lineages on cancer risk can be ...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/(SICI)1098-2272(1998)15:3<225::AID-GEPI2>3
更新日期:1998-01-01 00:00:00
abstract::Kin-cohort design can be used to study the effect of a genetic mutation on the risk of multiple events, using the same study. In this design, the outcome data consist of the event history of the relatives of a sample of genotyped subjects. Existing methods for kin-cohort estimation allow estimation of the risk of one ...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.10269
更新日期:2003-12-01 00:00:00
abstract::We investigated the independent contributions of a candidate gene and an environmental factor, and the presence of gene x environment (G x E) interaction, in the etiology of a disease in the Genetic Analysis Workshop (GAW) 12 problem 2 simulated data using a two-stage approach utilizing both case-control and case-pare...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.2001.21.s1.s843
更新日期:2001-01-01 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::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::In an earlier paper, positive but nonsignificant lod scores were found in pair-wise linkage tests between multiple endocrine neoplasia type 2A (MEN-2A) and both the haptoglobin (HP) locus on chromosome 16 and group-specific component (GC) locus on chromosome 4. Recently discovered restriction fragment length polymorph...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370030306
更新日期:1986-01-01 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::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::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::Two analytic methods were used in the Problem 2 data set. First, generalized estimating equations (GEE) modelling was developed to adjust for familial correlation in regressions evaluating candidate genes and an environmental factor. Second, the affected-pedigree-member (APM) method was used to identify chromosomal re...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370120633
更新日期:1995-01-01 00:00:00
abstract::Recently, Liang et al. ([2001b] Genet. Epidemiol. 21:105-122) proposed a conditional approach to assess linkage evidence on the target region by incorporating linkage information from an unlinked (reference) region using allele shared IBD (identity-by-decent) from affected sib pairs. This is carried out by conditionin...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.10305
更新日期:2004-02-01 00:00:00
abstract::We compare four strategies for finding the settings of genetic parameters that maximize the lod scores reported in GENEHUNTER 1.2. The four strategies are iterated complete factorial designs, iterated orthogonal Latin hypercubes, evolutionary operation, and numerical optimization. The genetic parameters that are set a...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370170718
更新日期:1999-01-01 00:00:00