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 observation that markers showing such departures are often close together on the chromosome confirms the result that Hardy-Weinberg tests at two loci are correlated to an extent that depends on the linkage disequilibrium between those two markers. Linkage disequilibrium can be described by the composite linkage disequilibrium coefficient, the parameter that determines the behavior of case-control allelic tests of association. A useful preliminary investigation of datasets of this type is provided by counting the numbers of distinct multi-locus genotypes in windows of a few markers.

journal_name

Genet Epidemiol

journal_title

Genetic epidemiology

authors

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

doi

10.1002/gepi.20038

subject

Has Abstract

pub_date

2004-12-01 00:00:00

pages

442-50

issue

4

eissn

0741-0395

issn

1098-2272

journal_volume

27

pub_type

杂志文章
  • Genetic epidemiology of Menkes disease.

    abstract::Copper incorporation studies were performed on individuals from 58 pedigrees, comprising 140 sibships. As previously reported, there is considerable overlap between heterozygotes and normal homozygotes. Segregation analysis supports recessive inheritance of disease, with residual heritability for 64Cu uptake in cultur...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.1370030403

    authors: Horn N,Morton NE

    更新日期:1986-01-01 00:00:00

  • Innovative approach to identify multigenomic and environmental interactions associated with birth defects in family-based hybrid designs.

    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

    authors: Lou XY,Hou TT,Liu SY,Xu HM,Lin F,Tang X,MacLeod SL,Cleves MA,Hobbs CA

    更新日期:2020-09-30 00:00:00

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

    abstract::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 tw...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.10253

    authors: Hindsberger C,Bryld LE

    更新日期:2003-11-01 00:00:00

  • Comparison of empirical strategies to maximize GENEHUNTER lod scores.

    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

    authors: Chen CH,Finch SJ,Mendell NR,Gordon D

    更新日期:1999-01-01 00:00:00

  • A flexible and parallelizable approach to genome-wide polygenic risk scores.

    abstract::The heritability of most complex traits is driven by variants throughout the genome. Consequently, polygenic risk scores, which combine information on multiple variants genome-wide, have demonstrated improved accuracy in genetic risk prediction. We present a new two-step approach to constructing genome-wide polygenic ...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.22245

    authors: Newcombe PJ,Nelson CP,Samani NJ,Dudbridge F

    更新日期:2019-10-01 00:00:00

  • Parental genotype reconstruction: applications of haplotype relative risk to incomplete parental data.

    abstract::Intended to resolve the problem of constructing a matched population-based control sample, haplotype relative risk techniques frequently suffer from loss of power for late-onset diseases due to unavailability of parental genotypes that are required to form parent-offspring pairs. However, much of this missing informat...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1098-2272(1998)15:5<471::AID-GEPI3>3

    authors: Martin RB,Alda M,MacLean CJ

    更新日期:1998-01-01 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

    doi:10.1002/gepi.20140

    authors: Lunn DJ,Whittaker JC,Best N

    更新日期:2006-04-01 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

    doi:10.1002/gepi.22043

    authors: Coombes B,Basu S,McGue M

    更新日期:2017-07-01 00:00:00

  • Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.

    abstract::Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene ...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.22288

    authors: Feng H,Gusev A,Pasaniuc B,Wu L,Long J,Abu-Full Z,Aittomäki K,Andrulis IL,Anton-Culver H,Antoniou AC,Arason A,Arndt V,Aronson KJ,Arun BK,Asseryanis E,Auer PL,Azzollini J,Balmaña J,Barkardottir RB,Barnes DR,Barrowda

    更新日期:2020-07-01 00:00:00

  • The role of environmental heterogeneity in meta-analysis of gene-environment interactions with quantitative traits.

    abstract::With challenges in data harmonization and environmental heterogeneity across various data sources, meta-analysis of gene-environment interaction studies can often involve subtle statistical issues. In this paper, we study the effect of environmental covariate heterogeneity (within and between cohorts) on two approache...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.21810

    authors: Li S,Mukherjee B,Taylor JM,Rice KM,Wen X,Rice JD,Stringham HM,Boehnke M

    更新日期:2014-07-01 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

    doi:10.1002/gepi.1370070306

    authors: Martinez M,Goldin LR

    更新日期:1990-01-01 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

    doi:10.1002/gepi.20300

    authors: Kooperberg C,Leblanc M

    更新日期:2008-04-01 00:00:00

  • Using case-control designs for genome-wide screening for associations between genetic markers and disease susceptibility loci.

    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

    authors: Yang Q,Khoury MJ,Atkinson M,Sun F,Cheng R,Flanders WD

    更新日期:1999-01-01 00:00:00

  • Effect of physical activity on lipid levels in a population-based sample of men with and without the Arg192 variant of the human paraoxonase gene.

    abstract::The prevalence of cardiovascular risk factors in Gerona, Spain, is high for the low myocardial infarction incidence and mortality rates in the province. Physical activity is a protective factor against coronary heart disease. We investigated whether the genetic variants Q and R of the paraoxonase Gln-Arg 192 polymorph...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1098-2272(200003)18:3<276::AID-GEPI6

    authors: Sentí M,Aubó C,Elosua R,Sala J,Tomás M,Marrugat J

    更新日期:2000-03-01 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

    doi:10.1002/gepi.1370070402

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

    更新日期:1990-01-01 00:00:00

  • Modelling the major histocompatibility complex susceptibility to RA using the MASC method.

    abstract::To explain the association between HLA-DRB1 gene and rheumatoid arthritis (RA), two main hypotheses have been proposed. The first, the shared epitope hypothesis, assumes a direct role of DRB1 in RA susceptibility. The second hypothesis assumes a recessive disease susceptibility gene in linkage disequilibrium with DRB1...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1098-2272(1998)15:4<419::AID-GEPI7>3

    authors: Génin E,Babron MC,McDermott MF,Mulcahy B,Waldron-Lynch F,Adams C,Clegg DO,Ward RH,Shanahan F,Molloy MG,O'Gara F,Clerget-Darpoux F

    更新日期:1998-01-01 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

    doi:10.1002/gepi.2001.21.s1.s415

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

    更新日期:2001-01-01 00:00:00

  • Linkage analysis of Alzheimer's disease with methods using relative pairs.

    abstract::Four relative-pair methods for detecting genetic linkage were applied to familial Alzheimer's disease data. Results obtained using an extended Haseman-Elston test and a weighted rank pairwise correlation test, which both use information from all relative pairs, were consistent with previously published likelihood resu...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.1370100608

    authors: Blossey H,Commenges D,Olson JM

    更新日期:1993-01-01 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

    doi:10.1002/gepi.21854

    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

  • A sliding-window weighted linkage disequilibrium test.

    abstract::Multilocus linkage disequilibrium (LD) tests that consider inter-marker (LD) are more powerful than single-locus tests when disease etiology is contributed simultaneously by several linked and correlated loci. However, inclusion of redundant non-informative markers may result in reduced testing power and/or inflated f...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.20165

    authors: Yang HC,Lin CY,Fann CS

    更新日期:2006-09-01 00:00:00

  • Identification of gene-gene interactions in the presence of missing data using the multifactor dimensionality reduction method.

    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

    authors: Namkung J,Elston RC,Yang JM,Park T

    更新日期:2009-11-01 00:00:00

  • Quantitative allelic test--a fast test for very large association studies.

    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

    authors: Lee SM,Karrison TG,Cox NJ,Im HK

    更新日期:2013-12-01 00:00:00

  • A hybrid design: case-parent triads supplemented by control-mother dyads.

    abstract::Hybrid designs arose from an effort to combine the benefits of family-based and population-based study designs. A recently proposed hybrid approach augments case-parent triads with population-based control-parent triads, genotyping everyone except the control offspring. Including parents of controls substantially impr...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.20365

    authors: Vermeulen SH,Shi M,Weinberg CR,Umbach DM

    更新日期:2009-02-01 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

    doi:10.1002/gepi.1370060113

    authors: Cox NJ,Spielman RS

    更新日期:1989-01-01 00:00:00

  • Rank-based robust tests for quantitative-trait genetic association studies.

    abstract::Standard linear regression is commonly used for genetic association studies of quantitative traits. This approach may not be appropriate if the trait, on its original or transformed scales, does not follow a normal distribution. A rank-based nonparametric approach that does not rely on any distributional assumptions c...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.21723

    authors: Li Q,Li Z,Zheng G,Gao G,Yu K

    更新日期:2013-05-01 00:00:00

  • Linkage analysis of asthma and atopy including models with genomic imprinting.

    abstract::Asthma and atopy are two closely related, common complex traits in which a number of genetic and environmental factors are suspected to play a role. We have performed parametric and nonparametric multi-marker linkage analysis for the Busselton data set, which is part of problem 1 of Genetic Analysis Workshop 12. In pa...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.2001.21.s1.s204

    authors: Strauch K,Bogdanow M,Fimmers R,Baur MP,Wienker TF

    更新日期:2001-01-01 00:00:00

  • Affected relative pairs and simultaneous search for two-locus linkage in the presence of epistasis.

    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

    authors: Schaid DJ,McDonnell SK,Carlson EE,Thibodeau SN,Ostrander EA,Stanford JL

    更新日期:2007-07-01 00:00:00

  • Kernel Approach for Modeling Interaction Effects in Genetic Association Studies of Complex Quantitative Traits.

    abstract::The etiology of complex traits likely involves the effects of genetic and environmental factors, along with complicated interaction effects between them. Consequently, there has been interest in applying genetic association tests of complex traits that account for potential modification of the genetic effect in the pr...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.21901

    authors: Broadaway KA,Duncan R,Conneely KN,Almli LM,Bradley B,Ressler KJ,Epstein MP

    更新日期:2015-07-01 00:00:00

  • Linkage analysis of candidate obesity genes among the Mexican-American population of Starr County, Texas.

    abstract::Recent advances in the molecular basis of body fat regulation have identified several genes in which genetic variation may influence obesity and related measures in human populations. Genes that have been shown to have a regulatory function in the control of body fat utilization, eating behavior, and/or metabolic rate...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1098-2272(1999)16:4<397::AID-GEPI6>3

    authors: Bray MS,Boerwinkle E,Hanis CL

    更新日期:1999-01-01 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

    doi:10.1002/(SICI)1098-2272(1997)14:6<975::AID-GEPI69>

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

    更新日期:1997-01-01 00:00:00