Parent-of-origin, imprinting, mitochondrial, and X-linked effects in traits related to alcohol dependence: presentation Group 18 of Genetic Analysis Workshop 14.

Abstract:

:The participants of Presentation Group 18 of Genetic Analysis Workshop 14 analyzed the Collaborative Study on the Genetics of Alcoholism data set to investigate sex-specific effects for phenotypes related to alcohol dependence. In particular, the participants looked at imprinting (which is also known as parent-of-origin effect), differences between recombination fractions for the two sexes, and mitochondrial and X-chromosomal effects. Five of the seven groups employed newly developed or existing methods that take imprinting into account when testing for linkage, or test for imprinting itself. Single-marker and multipoint analyses were performed for microsatellite as well as single-nucleotide polymorphism markers, and several groups used a sex-specific genetic map in addition to a sex-averaged map. Evidence for paternal imprinting (i.e., maternal expression) was consistently obtained by at least two groups at genetic regions on chromosomes 10, 12, and 21 that possibly harbor genes responsible for alcoholism. Evidence for maternal imprinting (which is equivalent to paternal expression) was consistently found at a locus on chromosome 11. Two groups applied extensions of variance components analysis that model a mitochondrial or X-chromosomal effect to latent class variables and electrophysiological traits employed in the diagnosis of alcoholism. The analysis, without using genetic markers, revealed mitochondrial or X-chromosomal effects for several of these traits. Accounting for sex-specific environmental variances appeared to be crucial for the identification of an X-chromosomal factor. In linkage analysis using marker data, modeling a mitochondrial variance component increased the linkage signals obtained for autosomal loci.

journal_name

Genet Epidemiol

journal_title

Genetic epidemiology

authors

Strauch K,Baur MP

doi

10.1002/gepi.20121

subject

Has Abstract

pub_date

2005-01-01 00:00:00

pages

S125-32

eissn

0741-0395

issn

1098-2272

journal_volume

29 Suppl 1

pub_type

杂志文章
  • 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

  • Pooling data and linkage analysis in the chromosome 5q candidate region for asthma.

    abstract::We investigated a variety of methods for pooling data from eight data sets (n = 5,424 subjects) to validate evidence for linkage of markers in the cytokine cluster on chromosome 5q31-33 to asthma and asthma-associated phenotypes. Chromosome 5 markers were integrated into current genetic linkage and physical maps, and ...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章,meta分析

    doi:10.1002/gepi.2001.21.s1.s103

    authors: Jacobs KB,Burton PR,Iyengar SK,Elston RC,Palmer LJ

    更新日期:2001-01-01 00:00:00

  • Monte Carlo analysis on a large pedigree.

    abstract::Monte Carlo methods for linkage and segregation analysis are applied to the HGAR1 pedigree. To address these data, the methods are extended in several ways. The results are compared with those provided by PAP. ...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.1370100658

    authors: Thompson EA,Lin S,Olshen AB,Wijsman EM

    更新日期:1993-01-01 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

    doi:10.1002/gepi.20406

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

    更新日期:2009-09-01 00:00:00

  • Linkage analysis in alcohol dependence.

    abstract::Alcohol dependence often is a familial disorder and has a genetic component. Research in causative factors of alcoholism is coordinated by a multi-center program, COGA [The Collaborative Study on the Genetics of Alcoholism, Begleiter et al., 1995]. We analyzed a subset of the COGA family sample, 84 pedigrees of Caucas...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.1370170768

    authors: Windemuth C,Hahn A,Strauch K,Baur MP,Wienker TF

    更新日期:1999-01-01 00:00:00

  • Genetic background comparison using distance-based regression, with applications in population stratification evaluation and adjustment.

    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

    authors: Li Q,Wacholder S,Hunter DJ,Hoover RN,Chanock S,Thomas G,Yu K

    更新日期:2009-07-01 00:00:00

  • Progress toward resolving the possible linkage of multiple endocrine neoplasia type 2A to haptoglobin and group-specific loci: use of restriction fragment length polymorphisms extends exclusion region.

    abstract::In an earlier paper, positive but nonsignificant lod scores were found in pair-wise linkage tests between multiple endocrine neoplasia type 2A (MEN-2A) and both the haptoglobin (HP) locus on chromosome 16 and group-specific component (GC) locus on chromosome 4. Recently discovered restriction fragment length polymorph...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.1370030306

    authors: Kidd KK,Kidd JR,Castiglione CM,Pakstis AJ,Sparkes RS

    更新日期:1986-01-01 00:00:00

  • Increased risk for familial ovarian cancer among Jewish women: a population-based case-control study.

    abstract::Jewish women have been reported to have a higher risk for familial breast cancer than non-Jewish women and to be more likely to carry mutations in breast cancer genes such as BRCA1. Because BRCA1 mutations also increase women's risk for ovarian cancer, we asked whether Jewish women are at higher risk for familial ovar...

    journal_title:Genetic epidemiology

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1002/(SICI)1098-2272(1998)15:1<51::AID-GEPI4>3.

    authors: Steinberg KK,Pernarelli JM,Marcus M,Khoury MJ,Schildkraut JM,Marchbanks PA

    更新日期:1998-01-01 00:00:00

  • PANDA: Prioritization of autism-genes using network-based deep-learning approach.

    abstract::Understanding the genetic background of complex diseases and disorders plays an essential role in the promising precision medicine. The evaluation of candidate genes, however, requires time-consuming and expensive experiments given a large number of possibilities. Thus, computational methods have seen increasing appli...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.22282

    authors: Zhang Y,Chen Y,Hu T

    更新日期:2020-06-01 00:00:00

  • Explorative two-locus linkage analysis suggests a multiplicative interaction between the 7q32 and 16p13 myoclonic seizures-related photosensitivity loci.

    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

    authors: Pinto D,Kasteleijn-Nolst Trenité DG,Cordell HJ,Mattheisen M,Strauch K,Lindhout D,Koeleman BP

    更新日期:2007-01-01 00:00:00

  • Segregation analysis of autosomal dominant polycystic kidney disease.

    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

    authors: Dobin A,Kimberling WJ,Pettinger W,Bailey-Wilson JE,Shugart YY,Gabow P

    更新日期:1993-01-01 00:00:00

  • Path analysis under generalized marital resemblance: evaluation of the assumptions underlying the mixed homogamy model by the Monte Carlo method.

    abstract::Path analysis of nuclear family data has been widely applied to resolve genetic and environmental sources of familial resemblance. Here we report the results of a systematic evaluation of the effects of departures from five modeling assumptions often made when analyzing nuclear family data; i) the observed environment...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.1370060207

    authors: McGue M,Wette R,Rao DC

    更新日期:1989-01-01 00:00:00

  • Apolipoprotein E phenotype, arterial disease, and mortality among older women: the study of osteoporotic fractures.

    abstract::This study is an investigation of the relationship between apolipoprotein E (apoE) phenotype, arterial disease, and mortality in a group of women (n = 1,751) aged 65 years and older enrolled in the Study of Osteoporotic Fractures. Crude mortality rates were highest among women with the 4-3 and 4-4 phenotypes but age-a...

    journal_title:Genetic epidemiology

    pub_type: 临床试验,杂志文章,多中心研究

    doi:10.1002/(SICI)1098-2272(1997)14:2<147::AID-GEPI4>3

    authors: Vogt MT,Cauley JA,Kuller LH

    更新日期:1997-01-01 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

  • Direct genetic effects and their estimation from matched case-control data.

    abstract::In genetic association studies, a single marker is often associated with multiple, correlated phenotypes (e.g., obesity and cardiovascular disease, or nicotine dependence and lung cancer). A pervasive question is then whether that marker exerts independent effects on all phenotypes. In this paper, we address this ques...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.21660

    authors: Berzuini C,Vansteelandt S,Foco L,Pastorino R,Bernardinelli L

    更新日期:2012-09-01 00:00:00

  • Mortality differences by APOE genotype estimated from demographic synthesis.

    abstract::The 4 allele of apolipoprotein E (APOE) is associated with increased risk of two major causes of death in low-mortality populations: ischemic heart disease and Alzheimer's disease. It is less common among centenarians than at younger ages. Therefore, it is likely that it is associated with excess risk of death. This a...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.0164

    authors: Ewbank DC

    更新日期:2002-02-01 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

    doi:10.1002/gepi.22101

    authors: Campbell DD,Li Y,Sham PC

    更新日期:2018-03-01 00:00:00

  • Efficient strategy for detecting gene × gene joint action and its application in schizophrenia.

    abstract::We propose a new approach to detect gene × gene joint action in genome-wide association studies (GWASs) for case-control designs. This approach offers an exhaustive search for all two-way joint action (including, as a special case, single gene action) that is computationally feasible at the genome-wide level and has r...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.21779

    authors: Won S,Kwon MS,Mattheisen M,Park S,Park C,Kihara D,Cichon S,Ophoff R,Nöthen MM,Rietschel M,Baur M,Uitterlinden AG,Hofmann A,GROUP Investigators.,Lange C

    更新日期:2014-01-01 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

    doi:10.1002/gepi.1370100628

    authors: Corder EH,Woodbury MA

    更新日期:1993-01-01 00:00:00

  • A novel association test for multiple secondary phenotypes from a case-control GWAS.

    abstract::In the past decade, many genome-wide association studies (GWASs) have been conducted to explore association of single nucleotide polymorphisms (SNPs) with complex diseases using a case-control design. These GWASs not only collect information on the disease status (primary phenotype, D) and the SNPs (genotypes, X), but...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章,随机对照试验

    doi:10.1002/gepi.22045

    authors: Ray D,Basu S

    更新日期:2017-07-01 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

  • GAW10: simulated family data for a common oligogenic disease with quantitative risk factors.

    abstract::GAW10 Problem 2 involves a simulated common disease defined by imposing a threshold, T, on a quantitative trait, Q1. Every individual with a value of Q1 > or = T (where T = 40) is defined as affected. Also thought to be associated with the disease as intervening variables are four other quantitative traits (Q2, Q3, Q4...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/(SICI)1098-2272(1997)14:6<737::AID-GEPI29>

    authors: MacCluer JW,Blangero J,Dyer TD,Speer MC

    更新日期:1997-01-01 00:00:00

  • Commingling analysis of memory performance in elderly men.

    abstract::Smalley et al. [(1992) Genet Epidemiol 9:333-345] found evidence of a mixture of two distributions in memory performance among offspring of patients with dementia of the Alzheimer type (DAT), suggesting that these groups reflect genotypic subgroups of carriers and non-carriers of a putative DAT gene. One prediction of...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.1370110506

    authors: Palmer CG,Wolkenstein BH,La Rue A,Swan GE,Smalley SL

    更新日期:1994-01-01 00:00:00

  • Linear trend tests for case-control genetic association that incorporate random phenotype and genotype misclassification error.

    abstract::The purpose of this work is the development of linear trend tests that allow for error (LTT ae), specifically incorporating double-sampling information on phenotypes and/or genotypes. We use a likelihood framework. Misclassification errors are estimated via double sampling. Unbiased estimates of penetrances and genoty...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.20246

    authors: Gordon D,Haynes C,Yang Y,Kramer PL,Finch SJ

    更新日期:2007-12-01 00:00:00

  • Analysis of breast cancer pedigrees using affected sibship methods.

    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...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.1370120653

    authors: Barrett JH,Rigby AS

    更新日期:1995-01-01 00:00:00

  • Pleiotropy and principal components of heritability combine to increase power for association analysis.

    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

    authors: Klei L,Luca D,Devlin B,Roeder K

    更新日期:2008-01-01 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

    doi:10.1002/gepi.13701707108

    authors: Morris A,Whittaker J

    更新日期:1999-01-01 00:00:00

  • Meta-Analysis of Rare Variant Association Tests in Multiethnic Populations.

    abstract::Several methods have been proposed to increase power in rare variant association testing by aggregating information from individual rare variants (MAF < 0.005). However, how to best combine rare variants across multiple ethnicities and the relative performance of designs using different ethnic sampling fractions remai...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.21939

    authors: Mensah-Ablorh A,Lindstrom S,Haiman CA,Henderson BE,Marchand LL,Lee S,Stram DO,Eliassen AH,Price A,Kraft P

    更新日期:2016-01-01 00:00:00

  • Multipoint analysis using affected sib pairs: incorporating linkage evidence from unlinked regions.

    abstract::In this paper, we proposed a multipoint method to assess evidence of linkage to one region by incorporating linkage evidence from another region. This approach uses affected sib pairs in which the number of alleles shared identical by descent (IBD) is the primary statistic. This generalized estimating equation (GEE) a...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.1021

    authors: Liang KY,Chiu YF,Beaty TH,Wjst M

    更新日期:2001-09-01 00:00:00

  • Novel likelihood ratio tests for screening gene-gene and gene-environment interactions with unbalanced repeated-measures data.

    abstract::There has been extensive literature on modeling gene-gene interaction (GGI) and gene-environment interaction (GEI) in case-control studies with limited literature on statistical methods for GGI and GEI in longitudinal cohort studies. We borrow ideas from the classical two-way analysis of variance literature to address...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.21744

    authors: Ko YA,Saha-Chaudhuri P,Park SK,Vokonas PS,Mukherjee B

    更新日期:2013-09-01 00:00:00