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 information can be reconstructed using the genotypes of the affected individual's siblings. For some cases, an estimate of the marker-allele frequencies for controls is needed. We have developed a technique based upon this idea and call it PGR (Parental Genotype Reconstruction). PGR represents a combination of the internal controls used by haplotype relative risk and controls based upon estimated allele frequencies. Although the latter is just what haplotype relative risk was designed to avoid, PGR has the potential to substantially boost power to detect linkage disequilibrium, for a relatively small increase in type I error. This performance is reasonably robust with respect to errors in the estimated allele frequencies, as we demonstrate by numerical simulation. A PGR software package has been written in FORTRAN and is available from Dr. Martin's web site at http://electro.psi.vcu.edu/rmartin/.

journal_name

Genet Epidemiol

journal_title

Genetic epidemiology

authors

Martin RB,Alda M,MacLean CJ

doi

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

subject

Has Abstract

pub_date

1998-01-01 00:00:00

pages

471-90

issue

5

eissn

0741-0395

issn

1098-2272

pii

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

journal_volume

15

pub_type

杂志文章
  • 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

  • Robust inference for variance components models in families ascertained through probands: I. Conditioning on proband's phenotype.

    abstract::A robust approach for estimating standard errors of variance components by using quantitative phenotypes from families ascertained through a proband with an extreme phenotypic value is presented. Estimators that use the multivariate normal distribution as a "working likelihood" are obtained by computing conditional ln...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.1370040305

    authors: Beaty TH,Liang KY

    更新日期:1987-01-01 00:00:00

  • Improving estimates of genetic maps: a meta-analysis-based approach.

    abstract::Inaccurate genetic (or linkage) maps can reduce the power to detect linkage, increase type I error, and distort haplotype and relationship inference. To improve the accuracy of existing maps, I propose a meta-analysis-based method that combines independent map estimates into a single estimate of the linkage map. The m...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.20221

    authors: Stewart WC

    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

  • To type or not to type: the use of unaffected siblings in nonparametric linkage analysis.

    abstract::Unaffected individuals are often disregarded in nonparametric linkage analysis. Because of the presumed high complexity of genetic interactions and the resulting low penetrance of any single genetic effect, the statistical contribution of unaffected sib pairs is thought to be considerably lower than that of the affect...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.2001.21.s1.s522

    authors: Majewski J

    更新日期:2001-01-01 00:00:00

  • Adaptive testing for association between two random vectors in moderate to high dimensions.

    abstract::Testing for association between two random vectors is a common and important task in many fields, however, existing tests, such as Escoufier's RV test, are suitable only for low-dimensional data, not for high-dimensional data. In moderate to high dimensions, it is necessary to consider sparse signals, which are often ...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.22059

    authors: Xu Z,Xu G,Pan W,Alzheimer's Disease Neuroimaging Initiative.

    更新日期:2017-11-01 00:00:00

  • Immunoglobulin allotyping (Gm, Km) of GAW5 families.

    abstract::The following Gm and Km immunoglobulin allotypes were determined on the Genetic Analysis Workshop 5 insulin-dependent diabetes mellitus (GAW5 IDDM) families: G1m (1,2,3,17), G2m (23), G3m (5,10,11,13,14,21,28) and Km (1,3). Since the allotype G2m (23) has been rarely studied, due to paucity of typing reagents, it was ...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.1370060108

    authors: Field LL,Dugoujon JM

    更新日期:1989-01-01 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

  • 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-orig...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.20121

    authors: Strauch K,Baur MP

    更新日期:2005-01-01 00:00:00

  • Investigation of a candidate gene, environment, and G x E interaction using case-control and case-parent study designs.

    abstract::We investigated the independent contributions of a candidate gene and an environmental factor, and the presence of gene x environment (G x E) interaction, in the etiology of a disease in the Genetic Analysis Workshop (GAW) 12 problem 2 simulated data using a two-stage approach utilizing both case-control and case-pare...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.2001.21.s1.s843

    authors: Norris JM,Selinger-Leneman H,Génin E

    更新日期:2001-01-01 00:00:00

  • Review of proteomics with applications to genetic epidemiology.

    abstract::Mapping of the human genome has the potential to transform the traditional methods of genetic epidemiology. The complete draft sequence of the 3.3 billion nucleotides comprising the genome is now available over the Internet, including the location and nearly complete sequence of the 26,000 to 31,000 protein-encoding g...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章,评审

    doi:10.1002/gepi.10226

    authors: Sellers TA,Yates JR

    更新日期:2003-02-01 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

    doi:10.1002/gepi.22243

    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

  • 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

  • Joint analysis of multiple phenotypes using a clustering linear combination method based on hierarchical clustering.

    abstract::Emerging evidence suggests that a genetic variant can affect multiple phenotypes, especially in complex human diseases. Therefore, joint analysis of multiple phenotypes may offer new insights into disease etiology. Recently, many statistical methods have been developed for joint analysis of multiple phenotypes, includ...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.22263

    authors: Li X,Zhang S,Sha Q

    更新日期:2020-01-01 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

    doi:10.1002/gepi.20036

    authors: Chiou JM,Liang KY,Chiu YF

    更新日期:2005-01-01 00:00:00

  • Propensity score-based nonparametric test revealing genetic variants underlying bipolar disorder.

    abstract::Association analysis has led to the identification of many genetic variants for complex diseases. While assessing the association between genes and a disease, other factors can play an important role. The consequence of not considering covariates (such as population stratification and environmental factors) is well-do...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.20558

    authors: Jiang Y,Zhang H

    更新日期:2011-02-01 00:00:00

  • Lifestyle and blood pressure levels in male twins in Utah.

    abstract::Healthy male monozygotic (MZ) and dizygotic (DZ) twin pairs (MZ pairs = 77; DZ pairs = 88) were studied to assess the effect of dietary intake, physical activity, physical fitness, body mass index (BMI), sum of the triceps and subscapular skinfold measurements, alcohol and caffeine consumption, and smoking patterns on...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.1370050409

    authors: Slattery ML,Bishop DT,French TK,Hunt SC,Meikle AW,Williams RR

    更新日期:1988-01-01 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

  • 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

    doi:10.1002/gepi.20590

    authors: Peloso GM,Dupuis J,Lunetta KL

    更新日期:2011-09-01 00:00:00

  • Estimating gene penetrance from family data.

    abstract::Family data are useful for estimating disease risk in carriers of specific genotypes of a given gene (penetrance). Penetrance is frequently estimated assuming that relatives' phenotypes are independent, given their genotypes for the gene of interest. This assumption is unrealistic when multiple shared risk factors con...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.20493

    authors: Gong G,Hannon N,Whittemore AS

    更新日期:2010-05-01 00:00:00

  • Model selection and Bayesian methods in statistical genetics: summary of group 11 contributions to Genetic Analysis Workshop 15.

    abstract::The research presented in group 11 of the Genetic Analysis Workshop 15 (GAW15) falls into two major themes: Model selection approaches for gene mapping (both Bayesian and Frequentist); and other Bayesian methods. These methods either allow relaxation of some of the common assumptions, such as mode of inheritance, for ...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章,评审

    doi:10.1002/gepi.20285

    authors: Swartz MD,Thomas DC,Daw EW,Albers K,Charlesworth JC,Dyer TC,Fridley BL,Govil M,Kraft P,Kwon S,Logue MW,Oh C,Pique-Regi R,Saba L,Schumacher FR,Uh HW

    更新日期:2007-01-01 00:00:00

  • Autoimmune thyroid disease in type I diabetic families.

    abstract::The prevalence rate for autoimmune thyroid disease (ATD) is about 30 times higher in the type I diabetic (IDDM) families that were ascertained for Genetic Analysis Workshop 5 (GAW5) than in the general population. Two approaches were used to study the clustering of ATD and IDDM in these families: 1) HLA haplotype shar...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.1370060126

    authors: Payami H,Joe S,Thomson G

    更新日期:1989-01-01 00:00:00

  • Power of non-parametric linkage analysis in mapping genes contributing to human longevity in long-lived sib-pairs.

    abstract::This report investigates the power issue in applying the non-parametric linkage analysis of affected sib-pairs (ASP) [Kruglyak and Lander, 1995: Am J Hum Genet 57:439-454] to localize genes that contribute to human longevity using long-lived sib-pairs. Data were simulated by introducing a recently developed statistica...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.10304

    authors: Tan Q,Zhao JH,Iachine I,Hjelmborg J,Vach W,Vaupel JW,Christensen K,Kruse TA

    更新日期:2004-04-01 00:00:00

  • Cancer risks to spouses and offspring in the Family-Cancer Database.

    abstract::It is generally accepted that cancer is caused by environmental and inherited factors but these are only partially identified. Family studies can be informative but they do not separate shared lifestyles and genes. We estimate familial risks for concordant cancers between spouses in common cancers of both sexes in ord...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/1098-2272(200102)20:2<247::AID-GEPI7>3.0.C

    authors: Hemminki K,Dong C,Vaittinen P

    更新日期:2001-02-01 00:00:00

  • Maximum-likelihood estimation of haplotype frequencies in nuclear families.

    abstract::The importance of haplotype analysis in the context of association fine mapping of disease genes has grown steadily over the last years. Since experimental methods to determine haplotypes on a large scale are not available, phase has to be inferred statistically. For individual genotype data, several reconstruction te...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.10323

    authors: Becker T,Knapp M

    更新日期:2004-07-01 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

  • Genome-wide linkage analysis using genetic variance components of alcohol dependency-associated censored and continuous traits.

    abstract::We used variance-components analysis to investigate the additive genetic effects regulating some of the phenotypes included in the GAW11 data set. Variance-components models were fitted using Gibbs sampling methods in BUGS v 0.6. Linkage analyses for both multivariate normal (MvN) traits and right censored survival ti...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.1370170748

    authors: Palmer LJ,Tiller KJ,Burton PR

    更新日期:1999-01-01 00:00:00

  • Two common polymorphisms in the APO A-IV coding gene: their evolution and linkage disequilibrium.

    abstract::Human apolipoprotein A-IV (APO A-IV) exhibits a common protein polymorphism detectable by isoelectric focusing (IEF) due to a single base substitution at codon 360 which replaces the frequently occurring glutamine residue (allele 1) with histidine (allele 2). Recently, sequence analysis of the APO A-IV coding region h...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.1370090503

    authors: Kamboh MI,Hamman RF,Ferrell RE

    更新日期:1992-01-01 00:00:00

  • The recurrence risks for isolated cases with incompletely penetrant X-linked conditions.

    abstract::The recurrence risks for an X-linked disease with incomplete penetrance are evaluated for a sib given that an isolated proband (male or female) is affected. The derived formulae are applied to the X-linked form of Alport and fragile X syndromes. ...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.1370030508

    authors: Rogatko A

    更新日期:1986-01-01 00:00:00

  • Segregation analysis of juvenile myoclonic epilepsy.

    abstract::We examined the inheritance of juvenile myoclonic epilepsy (JME). We looked at both the trait of "epilepsy" and the trait of "epilepsy-plus-EEG abnormalities," since EEG abnormalities are frequently found in the clinically unaffected sibs of JME patients. We tested several modes of inheritance including the fully pene...

    journal_title:Genetic epidemiology

    pub_type: 杂志文章

    doi:10.1002/gepi.1370050204

    authors: Greenberg DA,Delgado-Escueta AV,Maldonado HM,Widelitz H

    更新日期:1988-01-01 00:00:00