Analysis of breast cancer pedigrees using affected sibship methods.


: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.


Genet Epidemiol


Genetic epidemiology


Barrett JH,Rigby AS




Has Abstract


1995-01-01 00:00:00












  • Conditional multipoint linkage analysis using affected sib pairs: an alternative approach.

    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


    authors: Chiu YF,Liang KY

    更新日期:2004-02-01 00:00:00

  • Method for calculating risk associated with family history of a disease.

    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 ...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Kerber RA

    更新日期:1995-01-01 00:00:00

  • Genetic association with multiple traits in the presence of population stratification.

    abstract::Testing association between a genetic marker and multiple-dependent traits is a challenging task when both binary and quantitative traits are involved. The inverted regression model is a convenient method, in which the traits are treated as predictors although the genetic marker is an ordinal response. It is known tha...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Yan T,Li Q,Li Y,Li Z,Zheng G

    更新日期:2013-09-01 00:00:00

  • A new association test based on Chi-square partition for case-control GWA studies.

    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


    authors: Chen Z

    更新日期:2011-11-01 00:00:00

  • Commentary: the affected sib-pair method in the context of an epidemiologic study design.

    abstract::The purpose of this commentary is to provide a framework for using the well-known sib-pair methodology in the context of epidemiologic study designs. Using examples from the Pittsburgh family studies of insulin-dependent diabetes mellitus, we illustrate that the sib-pair method can be used in family-based epidemiologi...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Khoury MJ,Flanders WD,Lipton RB,Dorman JS

    更新日期:1991-01-01 00:00:00

  • Mapping alcoholism genes using linkage/linkage disequilibrium analysis.

    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


    authors: Aragaki C,Quiaoit F,Hsu L,Zhao LP

    更新日期:1999-01-01 00:00:00

  • Genetic epidemiology of cleft lip with or without cleft palate in the population of Hawaii.

    abstract::Orientals consisting of Japanese, Chinese, Koreans, and Filipinos are clearly at higher risk for cleft lip with or without cleft palate [CL(P)] than whites, Puerto Ricans, and Hawaiians/part-Hawaiians in Hawaii. Using the model of diallele cross, CL(P) incidences in incrosses and outcrosses involving 564,002 live birt...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Chung CS,Mi MP,Beechert AM

    更新日期:1987-01-01 00:00:00

  • Major genetic effects on airway-parenchymal dysanapsis of the lung: the Humboldt family study.

    abstract::We examined familial resemblance and performed segregation analysis for the maximal expiratory flow rate at 50% of vital capacity (Vmax50) and the ratio of Vmax50 to forced vital capacity (FVC), based on data from 309 nuclear families with 1,045 individuals in the town of Humboldt, Saskatchewan, in 1993. Vmax50 is con...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Chen Y,Dosman JA,Rennie DC,Lockinger LA

    更新日期:1999-01-01 00:00:00

  • Increasing the power of identifying gene x gene interactions in genome-wide association studies.

    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


    authors: Kooperberg C,Leblanc M

    更新日期:2008-04-01 00:00:00

  • Univariate analysis of dichotomous or ordinal data from twin pairs: a simulation study comparing structural equation modeling and logistic regression.

    abstract::The univariate analysis of categorical twin data can be performed using either structural equation modeling (SEM) or logistic regression. This paper presents a comparison between these two methods using a simulation study. Dichotomous and ordinal (three category) twin data are simulated under two different sample size...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Ramakrishnan V,Meyer JM,Goldberg J,Henderson WG

    更新日期:1996-01-01 00:00:00

  • Familial resemblance of bone mass in adult women.

    abstract::Bone mass may be so reduced in some individuals as to be characterized as osteoporotic, with resulting fracture, particularly of the proximal femur, vertebrae, or wrist. We identified 34 mother-daughter sets (n = 70) and 29 sibling sets (n = 59) from a community study of bone mass correlates to assess the degree of re...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Sowers MR,Burns TL,Wallace RB

    更新日期:1986-01-01 00:00:00

  • Bayesian meta-analysis across genome-wide association studies of diverse phenotypes.

    abstract::Genome-wide association studies (GWAS) are a powerful tool for understanding the genetic basis of diseases and traits, but most studies have been conducted in isolation, with a focus on either a single or a set of closely related phenotypes. We describe MetABF, a simple Bayesian framework for performing integrative me...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章,meta分析


    authors: Trochet H,Pirinen M,Band G,Jostins L,McVean G,Spencer CCA

    更新日期:2019-07-01 00:00:00

  • Random effects model for meta-analysis of multiple quantitative sibpair linkage studies.

    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


    authors: Li Z,Rao DC

    更新日期:1996-01-01 00:00:00

  • Adjustment for competing risk in kin-cohort estimation.

    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


    authors: Chatterjee N,Hartge P,Wacholder S

    更新日期:2003-12-01 00:00:00

  • Evaluation of methods accounting for population structure with pedigree data and continuous outcomes.

    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


    authors: Peloso GM,Dupuis J,Lunetta KL

    更新日期:2011-09-01 00:00:00

  • Region-based association tests for sequencing data on survival traits.

    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


    authors: Chien LC,Bowden DW,Chiu YF

    更新日期:2017-09-01 00:00:00

  • Power of the linkage test for a heterogeneous disorder due to two independent inherited causes: a simulation study.

    abstract::We have conducted a simulation study in small pedigrees to investigate the power to detect linkage and heterogeneity for a disorder due to either one of two independent disease loci. We have considered a highly polymorphic marker locus (PIC = 70%) linked to one disease locus and unlinked to the second. The power to de...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Martinez M,Goldin LR

    更新日期:1990-01-01 00:00:00

  • Epidemiologic analysis of gene-environment interaction in twins.

    abstract::Our aim was to develop a simple method for testing gene-environment interaction in twin data ascertained through affected twins (probands), with known exposure status of both cotwins. To this end we derived formulae for two epidemiologic measures, as a function of prevalence of an exposure and genotype, and disease ri...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Ottman R

    更新日期:1994-01-01 00:00:00

  • Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study.

    abstract::We used data from a population based series of breast cancer patients to investigate the genetic models that can best explain familial breast cancer not due to the BRCA1 and BRCA2 genes. The data set consisted of 1,484 women diagnosed with breast cancer under age 55 registered in the East Anglia Cancer registry betwee...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Antoniou AC,Pharoah PD,McMullan G,Day NE,Ponder BA,Easton D

    更新日期:2001-07-01 00:00:00

  • Functional-mixed effects models for candidate genetic mapping in imaging genetic studies.

    abstract::The aim of this paper is to develop a functional-mixed effects modeling (FMEM) framework for the joint analysis of high-dimensional imaging data in a large number of locations (called voxels) of a three-dimensional volume with a set of genetic markers and clinical covariates. Our FMEM is extremely useful for efficient...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Lin JA,Zhu H,Mihye A,Sun W,Ibrahim JG,Alzheimer's Neuroimaging Initiative.

    更新日期:2014-12-01 00:00:00

  • Contribution of thermolabile methylenetetrahydrofolate reductase variant to total plasma homocysteine levels in healthy men and women. Inter99 (2).

    abstract::Elevation in plasma total homocysteine (tHcy) is believed to be causally related to cardiovascular disease. Like age and sex, the thermolabile variant of methylenetetrahydrofolate reductase (MTHFR(C677T)) is an important nonmodifiable determinant of tHcy, which may be considered when describing normal ranges of tHcy i...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Husemoen LL,Thomsen TF,Fenger M,Jørgensen HL,Jørgensen T

    更新日期:2003-05-01 00:00:00

  • Testing Hardy-Weinberg equilibrium using mother-child case-control samples.

    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


    authors: Chen J,Zheng H,Wilson ML,Kraft P

    更新日期:2009-09-01 00:00:00

  • Genetic heterogeneity in Alzheimer's disease: a grade of membership analysis.

    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


    authors: Corder EH,Woodbury MA

    更新日期:1993-01-01 00:00:00

  • Gene-environment interaction tests for dichotomous traits in trios and sibships.

    abstract::When testing for genetic effects, failure to account for a gene-environment interaction can mask the true association effects of a genetic marker with disease. Family-based association tests are popular because they are completely robust to population substructure and model misspecification. However, when testing for ...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Hoffmann TJ,Lange C,Vansteelandt S,Laird NM

    更新日期:2009-12-01 00:00:00

  • Two adaptive weighting methods to test for rare variant associations in family-based designs.

    abstract::Although next-generation DNA sequencing technologies have made rare variant association studies feasible and affordable, the development of powerful statistical methods for rare variant association studies is still under way. Most of the existing methods for rare variant association studies compare the number of rare ...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Fang S,Sha Q,Zhang S

    更新日期:2012-07-01 00:00:00

  • Genetic analysis of a complex disease in the presence of an environmental risk factor.

    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


    authors: Eichenbaum-Voline S,Baur MP,Knapp M

    更新日期:1999-01-01 00:00:00

  • Defining the power limits of genome-wide association scan meta-analyses.

    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


    authors: Chapman K,Ferreira T,Morris A,Asimit J,Zeggini E

    更新日期:2011-12-01 00:00:00

  • A Bayesian toolkit for genetic association studies.

    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


    authors: Lunn DJ,Whittaker JC,Best N

    更新日期:2006-04-01 00:00:00

  • Familial analysis of eosinophilia caused by helminthic parasites.

    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


    authors: Moro-Furlani AM,Krieger H

    更新日期:1992-01-01 00:00:00

  • Sample size calculations for linkage analysis using extreme sib pairs based on segregation analysis with the quantitative phenotype body weight as an example.

    abstract::One approach to establish linkage is based on allele-sharing methods for sib pairs. Recently, the use of extreme sib pairs (ESP) has been proposed to increase power for mapping quantitative traits in humans. Several approaches have been discussed. In this study, we calculate sample sizes for the various ESP approaches...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Ziegler A,Hebebrand J

    更新日期:1998-01-01 00:00:00