Testing the utility of mod scores and sib-pair analysis to detect presence of disease susceptibility loci.

abstract：:Allele frequencies are generally estimated with data on a set of unrelated individuals. In genetic studies of late-onset diseases, the founding individuals in pedigrees are often not available, and so one is confronted with the problem of estimating allele frequencies with data on related individuals. We focus on sibp...

journal_title：Genetic epidemiology

authors： Broman KW

更新日期：2001-04-01 00:00:00

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

authors： Horn N,Morton NE

更新日期：1986-01-01 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：: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：:We construct data exploration tools for recognizing important covariate patterns associated with a phenotype, with particular focus on searching for association with gene-gene patterns. To this end, we propose a new variable selection procedure that employs latent selection weights and compare it to an alternative for...

journal_title：Genetic epidemiology

authors： Papathomas M,Molitor J,Hoggart C,Hastie D,Richardson S

更新日期：2012-09-01 00:00:00

abstract：:Our aim was to develop a simple method for testing gene-environment interaction in twin data ascertained through affected twins (probands), with known exposure status of both cotwins. To this end we derived formulae for two epidemiologic measures, as a function of prevalence of an exposure and genotype, and disease ri...

journal_title：Genetic epidemiology

authors： Ottman R

更新日期：1994-01-01 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：: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：: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

authors： Bray MS,Boerwinkle E,Hanis CL

更新日期：1999-01-01 00:00:00

abstract：:Three characteristics of genetic epidemiology that distinguish it from its parent disciplines are a focus on population-based research, a focus on the joint effects of genes and the environment, and the incorporation of the underlying biology of the disease into its conceptual models. These principles are illustrated ...

journal_title：Genetic epidemiology

authors： Thomas DC

更新日期：2000-12-01 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：:Mantel statistics provide an additional step to standard approaches in the analysis of gene expression and covariate data, allow the calculation of standard statistics such as correlation, partial correlation, and regression coefficients, and, with permutation tests, provide P values for these statistics to relate the...

journal_title：Genetic epidemiology

authors： Shannon WD,Watson MA,Perry A,Rich K

更新日期：2002-06-01 00:00:00

abstract：:We performed multivariate genetic analyses of cardiovascular risk factors from two sets of data on US and Australian female twins. Similar models for body mass index (BMI), serum low density (LDL) and high density (HDL) lipoproteins, including age as a covariate, were fitted successfully to both groups. These suggeste...

journal_title：Genetic epidemiology

authors： Duffy DL,O'Connell DL,Heller RF,Martin NG

更新日期：1993-01-01 00:00:00

abstract：:We used data from a population based series of breast cancer patients to investigate the genetic models that can best explain familial breast cancer not due to the BRCA1 and BRCA2 genes. The data set consisted of 1,484 women diagnosed with breast cancer under age 55 registered in the East Anglia Cancer registry betwee...

journal_title：Genetic epidemiology

authors： Antoniou AC,Pharoah PD,McMullan G,Day NE,Ponder BA,Easton D

更新日期：2001-07-01 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：: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

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

更新日期：2001-01-01 00:00:00

abstract：:High-throughput sequencing technologies have enabled large-scale studies of the role of the human microbiome in health conditions and diseases. Microbial community level association test, as a critical step to establish the connection between overall microbiome composition and an outcome of interest, has now been rout...

journal_title：Genetic epidemiology

authors： Zhan X,Tong X,Zhao N,Maity A,Wu MC,Chen J

更新日期：2017-04-01 00:00:00

abstract：:We investigate the relevance of the genetic determination of bone mineral density (BMD) variation to that of differential risk to osteoporotic fractures (OF). The high heritability (h(2)) of BMD and the significant phenotypic correlations between high BMD and low risk to OF are well known. Little is reported on h(2) f...

journal_title：Genetic epidemiology

authors： Deng HW,Mahaney MC,Williams JT,Li J,Conway T,Davies KM,Li JL,Deng H,Recker RR

更新日期：2002-01-01 00:00:00

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

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

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：:Genome-wide association (GWA) studies have proved extremely successful in identifying novel genetic loci contributing effects to complex human diseases. In doing so, they have highlighted the fact that many potential loci of modest effect remain undetected, partly due to the need for samples consisting of many thousan...

journal_title：Genetic epidemiology

authors： Zhuang JJ,Zondervan K,Nyberg F,Harbron C,Jawaid A,Cardon LR,Barratt BJ,Morris AP

更新日期：2010-05-01 00:00:00

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

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

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

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

更新日期：2012-09-01 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：: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：: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

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

更新日期：2007-12-01 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：:Variance component linkage analysis is commonly used to map quantitative trait loci (QTLs) in general pedigrees. Large pedigrees are especially attractive for these studies because they provide greater power per genotyped individual than small pedigrees. We propose accurate and computationally efficient methods to cal...

journal_title：Genetic epidemiology

authors： Chen WM,Abecasis GR

更新日期：2006-09-01 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：: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