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 found, with more young cases being attributable to the putative gene. No differences were found between breast and ovarian cancer, and there was no evidence against a simple dominant mode of inheritance.
journal_name
Genet Epidemioljournal_title
Genetic epidemiologyauthors
Barrett JH,Rigby ASdoi
10.1002/gepi.1370120653subject
Has Abstractpub_date
1995-01-01 00:00:00pages
847-51issue
6eissn
0741-0395issn
1098-2272journal_volume
12pub_type
杂志文章abstract::The following Gm and Km immunoglobulin allotypes were determined on the Genetic Analysis Workshop 5 insulin-dependent diabetes mellitus (GAW5 IDDM) families: G1m (1,2,3,17), G2m (23), G3m (5,10,11,13,14,21,28) and Km (1,3). Since the allotype G2m (23) has been rarely studied, due to paucity of typing reagents, it was ...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370060108
更新日期:1989-01-01 00:00:00
abstract::Methods to account for population structure (PS) in genome-wide association studies have been well developed in samples of unrelated individuals, but when a sample is composed of families, the task of finding and accounting for PS is not as straight forward. Family-based tests that condition on parental genotypes or t...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20590
更新日期:2011-09-01 00:00:00
abstract::We used a case-control design to scan the genome for any associations between genetic markers and disease susceptibility loci using the first two replicates of the Mycenaean population from the GAW11 (Problem 2) data. Using a case-control approach, we constructed a series of 2-by-3 tables for each allele of every mark...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.13701707128
更新日期:1999-01-01 00:00:00
abstract::The large number of tests performed in analyzing data from genome-wide association studies has a large impact on the power of detecting risk variants, and analytic strategies specifying the optimal set of hypotheses to be tested are necessary. We propose a genome-wide strategy that is based on one degree of freedom te...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20182
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::By analyzing more next-generation sequencing data, researchers have affirmed that rare genetic variants are widespread among populations and likely play an important role in complex phenotypes. Recently, a handful of statistical models have been developed to analyze rare variant (RV) association in different study des...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21804
更新日期:2014-05-01 00:00:00
abstract::Large-scale meta-analyses of genome-wide association scans (GWAS) have been successful in discovering common risk variants with modest and small effects. The detection of lower frequency signals will undoubtedly require concerted efforts of at least similar scale. We investigate the sample size-dictated power limits o...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20627
更新日期:2011-12-01 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::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::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::We have conducted a study of renal sodium and potassium reabsorption in 205 pairs of twins on freely chosen diets; 89 of the subjects were studied on more than one occasion. Renal tubular sodium and potassium handling, as measured by the fractional excretions FENa and FEK, show repeatable differences between individua...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370020103
更新日期:1985-01-01 00:00:00
abstract::Methods for genetic risk prediction have been widely investigated in recent years. However, most available training data involves European samples, and it is currently unclear how to accurately predict disease risk in other populations. Previous studies have used either training data from European samples in large sam...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22083
更新日期:2017-12-01 00:00:00
abstract::A recently developed nonparametric method is a generalization of the transmission disequilibrium test across all alleles of a locus. This approach has been applied to Problem 2 of GAW10 and has been extended to explore the combined contribution of neighboring loci for chromosomes 1, 5, and 8. When applied to the chrom...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/(SICI)1098-2272(1997)14:6<857::AID-GEPI49>
更新日期:1997-01-01 00:00:00
abstract::We subjected the first replication of the simulated isolated population data set to a novel analysis for association between marker alleles and either disease phenotypes or quantitative variable. The analysis depends on being able to reliably reconstruct all haplotypes in the pedigree. This was achieved using the MCLI...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.2001.21.s1.s571
更新日期:2001-01-01 00:00:00
abstract::Extensions of the approach to sib-pair linkage tests developed by Haseman and Elston [Behav Genet 2:3-19, 1972] are proposed which incorporate information on age of onset and age at examination. Alternate sources for the age of onset corrections are described, including models for the estimation of parameters associat...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370070607
更新日期:1990-01-01 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::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
abstract::We propose methods to construct meiotic gene maps while controlling the probability of a decision-error. First, a single step gene ordering procedure is presented whose decision-error probability is bounded above by a prespecified threshold. The bound for the error probability is valid under quite general circumstance...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/(SICI)1098-2272(1999)16:3<274::AID-GEPI4>3
更新日期:1999-01-01 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::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::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::It is commonly believed that multiple interacting genes increase the susceptibility of genetically complex diseases, yet few linkage analyses of human diseases scan for more than one locus at a time. To overcome some of the statistical and computational limitations of a simultaneous search for two disease susceptibili...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20223
更新日期:2007-07-01 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 results of classical segregation analysis on 159 families with polycystic kidney disease (PKD) are presented. It had been previously estimated that about 95% of autosomal dominant PKD (ADPKD) families have PKD1, the gene localized to chromosome 16p. The main purpose of the study was to determine if PKD shows any s...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370100305
更新日期:1993-01-01 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::The multiplicity problem has become increasingly important in genetic studies as the capacity for high-throughput genotyping has increased. The control of False Discovery Rate (FDR) (Benjamini and Hochberg. [1995] J. R. Stat. Soc. Ser. B 57:289-300) has been adopted to address the problems of false positive control an...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20164
更新日期:2006-09-01 00:00:00
abstract::We address the analytical problem of evaluating the evidence for linkage at a test locus while taking into account the effect of a known linked disease locus. The method we propose is a multimarker regression approach that models the identity-by-descent states for affected sib-pairs at a series of linked markers in te...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20137
更新日期:2006-04-01 00:00:00
abstract::An extension of the traditional regression of offspring on midparent (ROMP) method was used to estimate the heritability of the trait, test for marker association, and estimate the heritability attributable to a marker locus. The fifty replicates of the Genetic Analysis Workshop (GAW) 12 simulated general population d...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.2001.21.s1.s794
更新日期:2001-01-01 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::Gene-gene interaction is believed to play an important role in understanding complex traits. Multifactor dimensionality reduction (MDR) was proposed by Ritchie et al. [2001. Am J Hum Genet 69:138-147] to identify multiple loci that simultaneously affect disease susceptibility. Although the MDR method has been widely u...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20416
更新日期:2009-11-01 00:00:00