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 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::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::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::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::Recently, testing for anticipation has received renewed interest. It is well known that standard statistical methods are inappropriate for this purpose due to problems of sampling bias. Few statistical tests have been proposed for comparing mean age of onset in affected parents with mean age of onset in affected child...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20057
更新日期:2005-04-01 00:00:00
abstract::It is possible to estimate the proportionate contributions of ancestral populations to admixed individuals or populations using genetic markers, but different loci and alleles vary considerably in the amount of information that they provide. Conventionally, the allele frequency difference between parental populations ...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.10319
更新日期:2004-05-01 00:00:00
abstract::Mantel statistics provide an additional step to standard approaches in the analysis of gene expression and covariate data, allow the calculation of standard statistics such as correlation, partial correlation, and regression coefficients, and, with permutation tests, provide P values for these statistics to relate the...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1115
更新日期:2002-06-01 00:00:00
abstract::Systemic lupus erythematosus (SLE) is a complex disease which is partly determined by genetic factors which influence susceptibility to the disease phenotype. In this association study we try to define the high risk haplotypes which are responsible for this disease, together with other environmental factors. In many o...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370080607
更新日期:1991-01-01 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::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::Population stratification (PS) can lead to an inflated rate of false-positive findings in genome-wide association studies (GWAS). The commonly used approach of adjustment for a fixed number of principal components (PCs) could have a deleterious impact on power when selected PCs are equally distributed in cases and con...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20396
更新日期:2009-07-01 00:00:00
abstract::When many correlated traits are measured the potential exists to discover the coordinated control of these traits via genotyped polymorphisms. A common statistical approach to this problem involves assessing the relationship between each phenotype and each single nucleotide polymorphism (SNP) individually (PHN); and t...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20257
更新日期:2008-01-01 00:00:00
abstract::The present report summarizes findings on 670 cases of autosomal trisomy diagnosed in Scotland, with actual or expected dates of delivery in 1990 to 1994 inclusive. Cases were notified by cytogenetic service laboratories. There were 277 prenatal and 369 postnatal diagnoses and 24 spontaneous losses. Excluding the latt...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/(SICI)1098-2272(1999)16:2<179::AID-GEPI5>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::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::Genetic Analysis Workshop 17 (GAW17) focused on the transition from genome-wide association study designs and methods to the study designs and statistical genetic methods that will be required for the analysis of next-generation sequence data including both common and rare sequence variants. In the 166 contributions t...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20659
更新日期:2011-01-01 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::Simulation studies were conducted to assess to what extent the conclusions of segregation analysis, performed under the unified model, can be affected by the presence of unmeasured environmental factors shared by family members. Dichotomous data were generated on six-member nuclear families under two variants of the m...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370060140
更新日期:1989-01-01 00:00:00
abstract::The use of patterned covariance matrices in forming pedigree-based mixed models for quantitative traits is discussed. It is suggested that patterned covariance matrix models provide intuitive, theoretically appealing, and flexible genetic modeling devices for pedigree data. It is suggested further that the very great ...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370080104
更新日期:1991-01-01 00:00:00
abstract::Increased adiposity has repeatedly been identified as a major risk factor for a variety of chronic diseases. However, the question still remains whether the amount of adipose tissue itself is genetically mediated. To address this question, a segregation analysis, using maximum likelihood techniques as implemented in t...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370120505
更新日期:1995-01-01 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::Given the rapid pace with which genomics and other -omics disciplines are evolving, it is sometimes necessary to shift down a gear to consider more general scientific questions. In this line, in my presidential address I formulate six questions for genetic epidemiologists to ponder on. These cover the areas of reprodu...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.22191
更新日期:2019-04-01 00:00:00
abstract::We describe an extension to the TDT (transmission/disequilibrium test) which allows for more than two marker alleles and for covariates measured on the parent or offspring. We also describe a systematic genomic search where the mod score (maximized lod score) is computed for each marker under constraints on the popula...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370120623
更新日期:1995-01-01 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::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::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::A major locus influencing apolipoprotein AI (apo AI) serum levels was detected using data from the Donner Laboratory Family Study. This locus accounts for 46% of the phenotypic variability in apo AI levels. Multivariate segregation analysis revealed that this major locus also has significant pleiotropic effects on the...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370100648
更新日期:1993-01-01 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::In diseases with a complex mode of inheritance, families with multiple affected individuals are difficult to ascertain. The haplotype sharing statistic (HSS) uses (hidden) co-ancestry between affected individuals from a founder population. These affected individuals will likely not only share the same mutation(s), but...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/(SICI)1098-2272(1997)14:6<915::AID-GEPI59>
更新日期:1997-01-01 00:00:00
abstract::Genome-wide association (GWA) studies have proved extremely successful in identifying novel genetic loci contributing effects to complex human diseases. In doing so, they have highlighted the fact that many potential loci of modest effect remain undetected, partly due to the need for samples consisting of many thousan...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20482
更新日期:2010-05-01 00:00:00