Optimizing the power of genome-wide association studies by using publicly available reference samples to expand the control group.

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

authors： Becker T,Knapp M

更新日期：2004-07-01 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：: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

authors： Schwartz AG,Siegfried JM,Weiss L

更新日期：1999-11-01 00:00:00

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

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

更新日期：2008-01-01 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 mixed model of segregation analysis specifies major gene effects and partitions the residual variance into polygenic and environmental components. The model explains familial correlations essentially in terms of genetic causation. The regressive model, on the other hand, is constructed by successively conditioning...

journal_title：Genetic epidemiology

authors： Demenais FM,Bonney GE

更新日期：1989-01-01 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：: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

authors： Morris A,Whittaker J

更新日期：1999-01-01 00:00:00

abstract：:We have used the unblinded MG1/Q1 Genetic Analysis Workshop 12 simulated data as a model system for investigating the use of linkage disequilibrium structure and simple genotype-phenotype associations to identify candidate functional mutations within a gene of interest. Analysis of the pattern of pairwise linkage dise...

journal_title：Genetic epidemiology

authors： Huang Q,Morrison AC,Boerwinkle E

更新日期：2001-01-01 00:00:00

abstract：:Meta-analysis has been little explored to make an overall assessment of linkage from different studies. In practice, it is likely that published linkage studies will only report p-values. We compared the performance of the widely used Fisher method for combining p-values with that of pooling raw data. More loci were c...

journal_title：Genetic epidemiology

authors： Guerra R,Etzel CJ,Goldstein DR,Sain SR

更新日期：1999-01-01 00:00:00

abstract：:Linkage analysis of complex traits has had limited success in identifying trait-influencing loci. Recently, coding variants have been implicated as the basis for some biomedical associations. We tested whether coding variants are the basis for linkage peaks of complex traits in 42 African-American (n = 596) and 90 His...

journal_title：Genetic epidemiology

authors： Hellwege JN,Palmer ND,Raffield LM,Ng MC,Hawkins GA,Long J,Lorenzo C,Norris JM,Ida Chen YD,Speliotes EK,Rotter JI,Langefeld CD,Wagenknecht LE,Bowden DW

更新日期：2014-05-01 00:00:00

abstract：:When testing for genetic effects, failure to account for a gene-environment interaction can mask the true association effects of a genetic marker with disease. Family-based association tests are popular because they are completely robust to population substructure and model misspecification. However, when testing for ...

journal_title：Genetic epidemiology

authors： Hoffmann TJ,Lange C,Vansteelandt S,Laird NM

更新日期：2009-12-01 00:00:00

abstract：:Contributions to Group 17 of the Genetic Analysis Workshop 15 considered dense markers in linkage disequilibrium (LD) in the context of either linkage or association analysis. Three contributions reported on methods for modeling LD or selecting a subset of markers in linkage equilibrium to perform linkage analysis. Wh...

journal_title：Genetic epidemiology

authors： Dupuis J,Albers K,Allen-Brady K,Cho K,Elston RC,Kappen HJ,Tang H,Thomas A,Thomson G,Tsung E,Yang Q,Zhang W,Zhao K,Zheng G,Ziegler JT

更新日期：2007-01-01 00:00:00

abstract：:To date, thousands of genetic variants to be associated with numerous human traits and diseases have been identified by genome-wide association studies (GWASs). The GWASs focus on testing the association between single trait and genetic variants. However, the analysis of multiple traits and single nucleotide polymorph...

journal_title：Genetic epidemiology

authors： Bu D,Yang Q,Meng Z,Zhang S,Li Q

更新日期：2020-10-01 00:00:00

abstract：:For most complex diseases, the fraction of heritability that can be explained by the variants discovered from genome-wide association studies is minor. Although the so-called "rare variants" (minor allele frequency [MAF] < 1%) have attracted increasing attention, they are unlikely to account for much of the "missing h...

journal_title：Genetic epidemiology

authors： Lin WY,Yi N,Lou XY,Zhi D,Zhang K,Gao G,Tiwari HK,Liu N

更新日期：2013-09-01 00:00:00

abstract：:One approach to establish linkage is based on allele-sharing methods for sib pairs. Recently, the use of extreme sib pairs (ESP) has been proposed to increase power for mapping quantitative traits in humans. Several approaches have been discussed. In this study, we calculate sample sizes for the various ESP approaches...

journal_title：Genetic epidemiology

authors： Ziegler A,Hebebrand J

更新日期：1998-01-01 00:00:00

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

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

更新日期：2001-01-01 00:00:00

abstract：:Given the rapid pace with which genomics and other -omics disciplines are evolving, it is sometimes necessary to shift down a gear to consider more general scientific questions. In this line, in my presidential address I formulate six questions for genetic epidemiologists to ponder on. These cover the areas of reprodu...

journal_title：Genetic epidemiology

authors： König IR

更新日期：2019-04-01 00:00:00

abstract：:The role of a gene in a disease may be hidden by the presence of another risk factor such as an environmental factor. In that case, stratifying the data according to this factor strengthens power to detect linkage or association. We followed this strategy on the simulated data provided by GAW11. The transmission/diseq...

journal_title：Genetic epidemiology

authors： Eichenbaum-Voline S,Baur MP,Knapp M

更新日期：1999-01-01 00:00:00

abstract：:The potential importance of the joint action of genes, whether modeled with or without a statistical interaction term, has long been recognized. However, identifying such action has been a great challenge, especially when millions of genetic markers are involved. We propose a likelihood ratio-based Mann-Whitney test t...

journal_title：Genetic epidemiology

authors： Lu Q,Wei C,Ye C,Li M,Elston RC

更新日期：2012-09-01 00:00:00

abstract：:The present findings for familial Alzheimer's disease suggest a possible linkage to gene(s) on chromosome 21 for the early onset form and to chromosome 19 for the late onset. Since these results are not unequivocal, possible alternative hypotheses include the effect of genetic heterogeneity or of an oligogenic model o...

journal_title：Genetic epidemiology

authors： Macciardi F,Cavallini MC

更新日期：1993-01-01 00:00:00

abstract：:DNA methylation is an important epigenetic mechanism that has been linked to complex diseases and is of great interest to researchers as a potential link between genome, environment, and disease. As the scale of DNA methylation association studies approaches that of genome-wide association studies, issues such as popu...

journal_title：Genetic epidemiology

authors： Barfield RT,Almli LM,Kilaru V,Smith AK,Mercer KB,Duncan R,Klengel T,Mehta D,Binder EB,Epstein MP,Ressler KJ,Conneely KN

更新日期：2014-04-01 00:00:00

abstract：:In this study, we compare the statistical properties of a number of methods for estimating P-values for allele-sharing statistics in non-parametric linkage analysis. Some of the methods are based on the normality assumption, using different variance estimation methods, and others use simulation (gene-dropping) to find...

journal_title：Genetic epidemiology

authors： Jung J,Weeks DE,Feingold E

更新日期：2006-12-01 00:00:00

abstract：:Population isolates may be particularly useful for association studies of complex traits. This utility, however, largely depends on the transferability of tag SNPs chosen from reference samples, such as HapMap, to samples from such populations. Factors that characterize population isolates, such as widespread genetic ...

journal_title：Genetic epidemiology

authors： Service S,International Collaborative Group on Isolated Populations.,Sabatti C,Freimer N

更新日期：2007-04-01 00:00:00

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

authors： Lunn DJ,Whittaker JC,Best N

更新日期：2006-04-01 00:00:00

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

authors： Hinrichs AL,Suarez BK

更新日期：2005-01-01 00:00:00

abstract：:Our goal was to detect genes contributing to the P300 component of the event related potential (ERP). We found that all of the ERP traits were highly correlated. Most of them distinguished alcoholics from nonalcoholics. To have one summary variable for the ERP traits, we calculated the first principal component (PRIN1...

journal_title：Genetic epidemiology

authors： Goldin LR,Chase GA

更新日期：1999-01-01 00:00:00

abstract：:It has been suggested that collections of affected sib pairs, or their nuclear families, may be an efficient method for screening for genetic linkages in schizophrenia. We present the data collected in five years from 15 hospitals in the state of Maryland in an effort to determine if such a collection scheme will be f...

journal_title：Genetic epidemiology

authors： Pulver AE,Bale SJ

更新日期：1989-01-01 00:00:00

abstract：:Apolipoprotein A-IV (APO A-IV) is a major protein component of mesenteric lymph chylomicrons and very-low-density lipoproteins. It is found in plasma predominantly unassociated with major lipoprotein fractions and in high density lipoproteins. APO A-IV exhibits structural heterogeneity owing to two codominant alleles,...

journal_title：Genetic epidemiology

authors： Eichner JE,Kuller LH,Ferrell RE,Kamboh MI

更新日期：1989-01-01 00:00:00

abstract：:A recently developed nonparametric method is a generalization of the transmission disequilibrium test across all alleles of a locus. This approach has been applied to Problem 2 of GAW10 and has been extended to explore the combined contribution of neighboring loci for chromosomes 1, 5, and 8. When applied to the chrom...

journal_title：Genetic epidemiology

authors： Neas BR,Moser KL,Harley JB

更新日期：1997-01-01 00:00:00