Power and sample size calculations for SNP association studies with censored time-to-event outcomes.

abstract：:Simulation studies were conducted to assess to what extent the conclusions of segregation analysis, performed under the unified model, can be affected by the presence of unmeasured environmental factors shared by family members. Dichotomous data were generated on six-member nuclear families under two variants of the m...

journal_title：Genetic epidemiology

authors： Demenais F,Abel L

更新日期：1989-01-01 00:00:00

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

authors： Kamboh MI,Hamman RF,Ferrell RE

更新日期：1992-01-01 00:00:00

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

authors： Yang HC,Lin CY,Fann CS

更新日期：2006-09-01 00:00:00

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

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

abstract：:Multifactor dimensionality reduction (MDR) was developed as a nonparametric and model-free data mining method for detecting, characterizing, and interpreting epistasis in the absence of significant main effects in genetic and epidemiologic studies of complex traits such as disease susceptibility. The goal of MDR is to...

journal_title：Genetic epidemiology

authors： Pattin KA,White BC,Barney N,Gui J,Nelson HH,Kelsey KT,Andrew AS,Karagas MR,Moore JH

更新日期：2009-01-01 00:00:00

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

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

更新日期：2009-09-01 00:00:00

abstract：:In the analysis of gene expression data, dimension reduction techniques have been extensively adopted. The most popular one is perhaps the PCA (principal component analysis). To generate more reliable and more interpretable results, the SPCA (sparse PCA) technique has been developed. With the "small sample size, high ...

journal_title：Genetic epidemiology

authors： Liu M,Fan X,Fang K,Zhang Q,Ma S

更新日期：2017-12-01 00:00:00

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

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

更新日期：1999-01-01 00:00:00

abstract：:Association tests of multilocus haplotypes are of interest both in linkage disequilibrium mapping and in candidate gene studies. For case-parent trios, I discuss the extension of existing multilocus methods to include ambiguous haplotypes in tests of models which distinguish between the cis and trans phase. A likeliho...

journal_title：Genetic epidemiology

authors： Dudbridge F

更新日期：2003-09-01 00:00:00

abstract：:Complex traits have been modeled under various modes of two-locus inheritance. One example of a two-locus threshold model is the situation where an individual is susceptible to a disease trait if he or she carries three or more disease alleles. Under this model, if each locus is examined individually the inheritance a...

journal_title：Genetic epidemiology

authors： Leal SM,Ott J

更新日期：1997-01-01 00:00:00

abstract：:Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a disorder that has an elevated frequency in Saguenay-Lac-St-Jean (SLSJ) and Charlevoix, two geographically isolated regions in the past of northeastern Quebec. The incidence at birth and the carrier rate in SLSJ were estimated at 1/1,932 liveborn i...

journal_title：Genetic epidemiology

authors： De Braekeleer M,Giasson F,Mathieu J,Roy M,Bouchard JP,Morgan K

更新日期：1993-01-01 00:00:00

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

authors： Rogatko A

更新日期：1986-01-01 00:00:00

abstract：:It is possible to estimate the proportionate contributions of ancestral populations to admixed individuals or populations using genetic markers, but different loci and alleles vary considerably in the amount of information that they provide. Conventionally, the allele frequency difference between parental populations ...

journal_title：Genetic epidemiology

authors： Pfaff CL,Barnholtz-Sloan J,Wagner JK,Long JC

更新日期：2004-05-01 00:00:00

abstract：:Using the Genetic Analysis Workshop 12 simulated data, we contrasted results for association tests in nuclear families and extended pedigrees using single-nucleotide polymorphism (SNP) data, and we compared results for different trait definitions, for outbred and isolate populations, and for SNP and microsatellite dat...

journal_title：Genetic epidemiology

authors： Wilk JB,Volcjak JS,Myers RH,Maher NE,Knowlton BA,Heard-Costa NL,Demissie S,Cupples LA,DeStefano AL

更新日期：2001-01-01 00:00:00

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

authors： Kooperberg C,Leblanc M

更新日期：2008-04-01 00:00:00

abstract：:A key aim for current genome-wide association studies (GWAS) is to interrogate the full spectrum of genetic variation underlying human traits, including rare variants, across populations. Deep whole-genome sequencing is the gold standard to fully capture genetic variation, but remains prohibitively expensive for large...

journal_title：Genetic epidemiology

authors： Quick C,Anugu P,Musani S,Weiss ST,Burchard EG,White MJ,Keys KL,Cucca F,Sidore C,Boehnke M,Fuchsberger C

更新日期：2020-09-01 00:00:00

abstract：:Clinical trial results have recently demonstrated that inhibiting inflammation by targeting the interleukin-1β pathway can offer a significant reduction in lung cancer incidence and mortality, highlighting a pressing and unmet need to understand the benefits of inflammation-focused lung cancer therapies at the genetic...

journal_title：Genetic epidemiology

authors： Sun R,Xu M,Li X,Gaynor S,Zhou H,Li Z,Bossé Y,Lam S,Tsao MS,Tardon A,Chen C,Doherty J,Goodman G,Bojesen SE,Landi MT,Johansson M,Field JK,Bickeböller H,Wichmann HE,Risch A,Rennert G,Arnold S,Wu X,Melander O,

更新日期：2021-02-01 00:00:00

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

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

更新日期：2001-01-01 00:00:00

abstract：:High-throughput sequencing data can be used to predict phenotypes from genotypes, and this corresponds to establishing a prognostic model. In extended pedigrees the relatedness of subjects provides additional information so that genetic values, fixed or random genetic components, and heritability can be estimated. At ...

journal_title：Genetic epidemiology

authors： Ziegler A,Bohossian N,Diego VP,Yao C

更新日期：2014-09-01 00:00:00

abstract：:We develop a Bayesian multi-SNP Markov chain Monte Carlo approach that allows published functional significance scores to objectively inform single nucleotide polymorphism (SNP) prior effect sizes in expression quantitative trait locus (eQTL) studies. We developed the Normal Gamma prior to allow the inclusion of funct...

journal_title：Genetic epidemiology

authors： Boggis EM,Milo M,Walters K

更新日期：2016-05-01 00:00:00

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

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

更新日期：1994-01-01 00:00:00

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

authors： Majewski J

更新日期：2001-01-01 00:00:00

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

authors： Chien LC,Bowden DW,Chiu YF

更新日期：2017-09-01 00:00:00

abstract：:A major locus that determines levels of apolipoprotein B (apoB) was revealed by likelihood analysis on 331 members of 36 pedigrees. The major locus explained 43.2% of the observed variance, with the remainder attributed to random environmental factors. Estimated mean apoB levels (mg/dl) were 110.5 +/- 2.5, 141.9 +/- 4...

journal_title：Genetic epidemiology

authors： Hasstedt SJ,Wu L,Williams RR

更新日期：1987-01-01 00:00:00

abstract：:Methods for genetic risk prediction have been widely investigated in recent years. However, most available training data involves European samples, and it is currently unclear how to accurately predict disease risk in other populations. Previous studies have used either training data from European samples in large sam...

journal_title：Genetic epidemiology

authors： Márquez-Luna C,Loh PR,South Asian Type 2 Diabetes (SAT2D) Consortium.,SIGMA Type 2 Diabetes Consortium.,Price AL

更新日期：2017-12-01 00:00:00

abstract：:The availability of high-density haplotype data has motivated several fine-scale linkage disequilibrium mapping methods for locating disease-causing mutations. These methods identify loci around which haplotypes of case chromosomes exhibit greater similarity than do those of control chromosomes. A difficulty arising i...

journal_title：Genetic epidemiology

authors： Yu K,Martin RB,Whittemore AS

更新日期：2004-11-01 00:00:00

abstract：:Sub-Saharan Africa has been identified as the part of the world with the greatest human genetic diversity. This high level of diversity causes difficulties for genome-wide association (GWA) studies in African populations-for example, by reducing the accuracy of genotype imputation in African populations compared to no...

journal_title：Genetic epidemiology

authors： Huang L,Jakobsson M,Pemberton TJ,Ibrahim M,Nyambo T,Omar S,Pritchard JK,Tishkoff SA,Rosenberg NA

更新日期：2011-12-01 00:00:00

abstract：:The genotypes of individuals in replicate genetic association studies have some level of correlation due to shared descent in the complete pedigree of all living humans. As a result of this genealogical sharing, replicate studies that search for genotype-phenotype associations using linkage disequilibrium between mark...

journal_title：Genetic epidemiology

authors： Rosenberg NA,Vanliere JM

更新日期：2009-09-01 00:00:00

abstract：:In spite of the success of genome-wide association studies in finding many common variants associated with disease, these variants seem to explain only a small proportion of the estimated heritability. Data collection has turned toward exome and whole genome sequencing, but it is well known that single marker methods ...

journal_title：Genetic epidemiology

authors： Ayers KL,Cordell HJ

更新日期：2013-09-01 00:00:00

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

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

更新日期：1999-01-01 00:00:00