Analysis of twin data ascertained through probands: the double-entry approach.


:Twin pairs are sometimes included in studies because at least one of them is a proband, and conventionally the analysis of the data is based on the conditional distribution of the co twin given the proband. In the case of more than one proband in each pair, an often used "ad hoc" method of analysis is to allow each twin to act as proband as well as co twin. An example of this is the pro band wise concordance, which is used as an estimate of the case wise concordance under incomplete ascertainment. In this paper, we show that the method of double entry under a regularity condition provides consistent estimates of parameters, but that conventional standard errors as well as a correction suggested by Stevenson et al. will be wrong. Instead, we recommend the use of an easily calculated sandwich estimator. We illustrate the method with twin data from a study of the genetic component in hand eczema.


Genet Epidemiol


Genetic epidemiology


Hindsberger C,Bryld LE




Has Abstract


2003-11-01 00:00:00












  • Estimation of allele frequencies with data on sibships.

    abstract::Allele frequencies are generally estimated with data on a set of unrelated individuals. In genetic studies of late-onset diseases, the founding individuals in pedigrees are often not available, and so one is confronted with the problem of estimating allele frequencies with data on related individuals. We focus on sibp...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Broman KW

    更新日期:2001-04-01 00:00:00

  • The insulin gene and susceptibility to IDDM.

    abstract::The association between insulin-dependent diabetes mellitus (IDDM) and an allele of a restriction fragment length polymorphism (RFLP) 5' to the coding region of the insulin gene has raised the possibility that variation in the vicinity of the insulin gene confers susceptibility to IDDM. To test this hypothesis, the di...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Cox NJ,Spielman RS

    更新日期:1989-01-01 00:00:00

  • Heritability analysis of nontraditional glycemic biomarkers in the Atherosclerosis Risk in Communities Study.

    abstract::Nontraditional glycemic biomarkers, including fructosamine, glycated albumin, and 1,5-anhydroglucitol (1,5-AG) are potential alternatives or complement to traditional measures of hyperglycemia. Genetic variants are associated with these biomarkers, but the heritability, or extent to which genetics control their variat...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Loomis SJ,Tin A,Coresh J,Boerwinkle E,Pankow JS,Köttgen A,Selvin E,Duggal P

    更新日期:2019-10-01 00:00:00

  • Familial aggregation of breast cancer with early onset lung cancer.

    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


    authors: Schwartz AG,Siegfried JM,Weiss L

    更新日期:1999-11-01 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

  • Genotyping errors, pedigree errors, and missing data.

    abstract::Our group studied the effects of genotyping errors, pedigree errors, and missing data on a wide range of techniques, with a focus on the role of single-nucleotide polymorphisms (SNPs). Half of our group used simulated data, and half of our group used data from the Collaborative Study on the Genetics of Alcoholism (COG...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Hinrichs AL,Suarez BK

    更新日期:2005-01-01 00:00:00

  • Exploiting pleiotropy to map genes for oligogenic phenotypes using extended pedigree data.

    abstract::We investigated the utility of two approaches for exploiting pleiotropy to search for genes influencing related traits. To do this we first assessed the genetic correlations among a set of five closely related quantitative traits (Q1, Q2, Q3, Q4, Q5). We then used the genetic correlations among these five traits both ...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Comuzzie AG,Mahaney MC,Almasy L,Dyer TD,Blangero J

    更新日期:1997-01-01 00:00:00

  • Biochemical intermediates in alpha 1-antitrypsin deficiency: residual family resemblance for total alpha 1-antitrypsin, oxidized alpha 1-antitrypsin, and immunoglobulin E after adjustment for the effect of the Pi locus.

    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


    authors: Silverman EK,Province MA,Campbell EJ,Pierce JA,Rao DC

    更新日期:1990-01-01 00:00:00

  • Allelic association patterns for a dense SNP map.

    abstract::A dense set of 5,000 SNPs on a 10-Mb region of human chromosome 20 has been typed on samples of African Americans, East Asians, and United Kingdom Caucasians. There are departures from Hardy-Weinberg equilibrium beyond the level at which markers are often discarded because of possible genotyping errors. The observatio...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Weir BS,Hill WG,Cardon LR,SNP Consortium.

    更新日期:2004-12-01 00:00:00

  • A combination test for detection of gene-environment interaction in cohort studies.

    abstract::Identifying gene-environment (G-E) interactions can contribute to a better understanding of disease etiology, which may help researchers develop disease prevention strategies and interventions. One big criticism of studying G-E interaction is the lack of power due to sample size. Studies often restrict the interaction...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Coombes B,Basu S,McGue M

    更新日期:2017-07-01 00:00:00

  • Measuring the inflation of the lod score due to its maximization over model parameter values in human linkage analysis.

    abstract::A computer-simulation method is presented for determining and correcting for the effect of maximizing the lod score over disease definitions, penetrance values, and perhaps other model parameters. The method consists of simulating the complete analysis using marker genotypes randomly generated under the assumption of ...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Weeks DE,Lehner T,Squires-Wheeler E,Kaufmann C,Ott J

    更新日期:1990-01-01 00:00:00

  • Parental transmission and D18S37 allele sharing in bipolar affective disorder.

    abstract::We combined the five chromosome 18 bipolar affective disorder data sets provided by GAW10, totaling 185 families with 3,394 individuals, and performed analysis of differential parental transmission and chromosome 18 marker allele sharing in families with transmission through fathers vs those through mothers. Results i...

    journal_title:Genetic epidemiology

    pub_type: 临床试验,杂志文章


    authors: Lin JP,Bale SJ

    更新日期:1997-01-01 00:00:00

  • Regionally Smoothed Meta-Analysis Methods for GWAS Datasets.

    abstract::Genome-wide association studies are proven tools for finding disease genes, but it is often necessary to combine many cohorts into a meta-analysis to detect statistically significant genetic effects. Often the component studies are performed by different investigators on different populations, using different chips wi...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Begum F,Sharker MH,Sherman SL,Tseng GC,Feingold E

    更新日期:2016-02-01 00:00:00

  • Tests for gene-environment interaction from case-control data: a novel study of type I error, power and designs.

    abstract::To evaluate the risk of a disease associated with the joint effects of genetic susceptibility and environmental exposures, epidemiologic researchers often test for non-multiplicative gene-environment effects from case-control studies. In this article, we present a comparative study of four alternative tests for intera...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Mukherjee B,Ahn J,Gruber SB,Rennert G,Moreno V,Chatterjee N

    更新日期:2008-11-01 00:00:00

  • Major gene with sex-specific effects influences fat mass in Mexican Americans.

    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


    authors: Comuzzie AG,Blangero J,Mahaney MC,Mitchell BD,Hixson JE,Samollow PB,Stern MP,MacCluer JW

    更新日期:1995-01-01 00:00:00

  • SNP selection in genome-wide and candidate gene studies via penalized logistic regression.

    abstract::Penalized regression methods offer an attractive alternative to single marker testing in genetic association analysis. Penalized regression methods shrink down to zero the coefficient of markers that have little apparent effect on the trait of interest, resulting in a parsimonious subset of what we hope are true perti...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Ayers KL,Cordell HJ

    更新日期:2010-12-01 00:00:00

  • Using single nucleotide polymorphisms to investigate association between a candidate gene and disease.

    abstract::A range of study designs, using unrelated or family controls, were used to investigate the pattern of association with disease of single nucleotide polymorphisms (SNPs) within candidate gene 1 (simulated data). Strong evidence of disease association at the functional locus was detected using all study designs, and in ...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Saunders CL,Crockford GP,Bishop DT,Barrett JH

    更新日期:2001-01-01 00:00:00

  • Projection regression models for multivariate imaging phenotype.

    abstract::This paper presents a projection regression model (PRM) to assess the relationship between a multivariate phenotype and a set of covariates, such as a genetic marker, age, and gender. In the existing literature, a standard statistical approach to this problem is to fit a multivariate linear model to the multivariate p...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Lin JA,Zhu H,Knickmeyer R,Styner M,Gilmore J,Ibrahim JG

    更新日期:2012-09-01 00:00:00

  • Multifactorial disease risk calculator: Risk prediction for multifactorial disease pedigrees.

    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


    authors: Campbell DD,Li Y,Sham PC

    更新日期:2018-03-01 00:00:00

  • Hierarchical Bayesian model for rare variant association analysis integrating genotype uncertainty in human sequence data.

    abstract::Next-generation sequencing (NGS) has led to the study of rare genetic variants, which possibly explain the missing heritability for complex diseases. Most existing methods for rare variant (RV) association detection do not account for the common presence of sequencing errors in NGS data. The errors can largely affect ...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: He L,Pitkäniemi J,Sarin AP,Salomaa V,Sillanpää MJ,Ripatti S

    更新日期:2015-02-01 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

  • Trends in prenatal diagnosis of Down syndrome and other autosomal trisomies in Scotland 1990 to 1994, with associated cytogenetic and epidemiological findings.

    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


    authors: Carothers AD,Boyd E,Lowther G,Ellis PM,Couzin DA,Faed MJ,Robb A

    更新日期:1999-01-01 00:00:00

  • The power of iterated generalized least squares (GLS) method to detect direct relationships in the analysis of correlated quantitative traits.

    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


    authors: He Q,Nemesure BB,Mendell NR

    更新日期:1997-01-01 00:00:00

  • Generalization of the extended transmission disequilibrium test to two unlinked disease loci.

    abstract::The extended transmission disequilibrium test (ETDT) of Sham and Curtis [1995] is a powerful test of the null hypothesis of no linkage between a multi-allelic marker locus and a disease susceptibility locus of unknown location in the presence of association between alleles at the two loci. We propose a generalization ...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Morris A,Whittaker J

    更新日期:1999-01-01 00:00:00

  • Estimating the power of variance component linkage analysis in large pedigrees.

    abstract::Variance component linkage analysis is commonly used to map quantitative trait loci (QTLs) in general pedigrees. Large pedigrees are especially attractive for these studies because they provide greater power per genotyped individual than small pedigrees. We propose accurate and computationally efficient methods to cal...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Chen WM,Abecasis GR

    更新日期:2006-09-01 00:00:00

  • A general autosomal/X-linked model.

    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


    authors: Hasstedt SJ,Skolnick M

    更新日期:1984-01-01 00:00:00

  • Evaluation of path analysis through computer simulation: effect of incorrectly assuming independent distribution of familial correlations.

    abstract::Path analysis of family data has been widely applied to resolve genetic and environmental patterns of familial resemblance. A prevalent statistical approach in path analysis has been, first, to estimate the familial correlations and, second, by assuming these estimates to be independently distributed, define a likelih...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: McGue M,Wette R,Rao DC

    更新日期:1984-01-01 00:00:00

  • Multipoint linkage mapping using sibpairs: non-parametric estimation of trait effects with quantitative covariates.

    abstract::Multipoint linkage analysis using sibpair designs remains a common approach to help investigators to narrow chromosomal regions for traits (either qualitative or quantitative) of interest. Despite its popularity, the success of this approach depends heavily on how issues such as genetic heterogeneity, gene-gene, and g...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章


    authors: Chiou JM,Liang KY,Chiu YF

    更新日期:2005-01-01 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

  • PreCimp: Pre-collapsing imputation approach increases imputation accuracy of rare variants in terms of collapsed variables.

    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


    authors: Kim YJ,Lee J,Kim BJ,T2D-Genes Consortium.,Park T

    更新日期:2017-01-01 00:00:00