Rare-variant association tests in longitudinal studies, with an application to the Multi-Ethnic Study of Atherosclerosis (MESA).

abstract：:We combined the five chromosome 18 bipolar affective disorder data sets provided by GAW10, totaling 185 families with 3,394 individuals, and performed analysis of differential parental transmission and chromosome 18 marker allele sharing in families with transmission through fathers vs those through mothers. Results i...

journal_title：Genetic epidemiology

authors： Lin JP,Bale SJ

更新日期：1997-01-01 00:00:00

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

authors： Sellers TA,Yates JR

更新日期：2003-02-01 00:00:00

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

authors： Gong G,Hannon N,Whittemore AS

更新日期：2010-05-01 00:00:00

abstract：:Polygenic risk scores (PRSs) are a method to summarize the additive trait variance captured by a set of SNPs, and can increase the power of set-based analyses by leveraging public genome-wide association study (GWAS) datasets. PRS aims to assess the genetic liability to some phenotype on the basis of polygenic risk fo...

journal_title：Genetic epidemiology

authors： Baker E,Schmidt KM,Sims R,O'Donovan MC,Williams J,Holmans P,Escott-Price V,Consortium WTG

更新日期：2018-06-01 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：: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：:Genes with imprinting (parent-of-origin) effects express differently when inheriting from the mother or from the father. Some genes for development and behavior in mammals are known to be imprinted. We developed parametric linkage analysis that accounts for imprinting effects for continuous traits, implementing it in ...

journal_title：Genetic epidemiology

authors： Sung YJ,Rao DC

更新日期：2008-07-01 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：: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：:Lander and Kruglyak [1995] gave guidelines for interpreting linkage results based on estimating how often a particular threshold for significance would be exceeded by chance in a single genome scan. What is unknown is how often two or more genome scans would exceed a particular threshold within the same region. We dev...

journal_title：Genetic epidemiology

authors： Badner JA,Goldin LR

更新日期：1999-01-01 00:00:00

abstract：:The transmission disequilibrium test (TDT), originally developed for mapping disease genes, has recently been extended to identify quantitative trait loci (QTL). For quantitative traits important for human health, generally multiple QTLs are involved. In the investigation of the statistical properties of the TDT, back...

journal_title：Genetic epidemiology

authors： Deng HW,Li J,Recker RR

更新日期：2001-11-01 00:00:00

abstract：:We determined pairwise linkage disequilibria between 12 restriction fragment length polymorphism (RFLP) markers at or near the low-density lipoprotein receptor (LDLR) locus on chromosome 19p13.2-13.1 in 92 unrelated individuals. Of these 12 RFLPs, two were newly identified under a cosmid-based strategy designed to scr...

journal_title：Genetic epidemiology

authors： Hegele RA,Plaetke R,Lalouel JM

更新日期：1990-01-01 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：: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 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

authors： Jiang Y,Zhang H

更新日期：2011-02-01 00:00:00

abstract：:Power estimations are important for optimizing genotype-phenotype association study designs. However, existing frameworks are designed for common disorders, and thus ill-suited for the inherent challenges of studies for low-prevalence conditions such as rare diseases and infrequent adverse drug reactions. These challe...

journal_title：Genetic epidemiology

authors： Mak L,Li M,Cao C,Gordon P,Tarailo-Graovac M,Bousman C,Wang P,Long Q

更新日期：2018-07-01 00:00:00

abstract：:Haplotype sharing analysis is a well-established option for the investigation of the etiology of complex diseases. The statistical power of haplotype association methods depends strongly on how the information of unobserved haplotypes can be captured by multilocus genotypes. In this study we combine an entropy-based m...

journal_title：Genetic epidemiology

authors： Schulz A,Fischer C,Chang-Claude J,Beckmann L

更新日期：2010-05-01 00:00:00

abstract：:Various statistical methods have been proposed to evaluate associations between measured genetic variants and disease, including some using family designs. For breast cancer and rare variants, we applied a modified segregation analysis method that uses the population cancer incidence and population-based case families...

journal_title：Genetic epidemiology

authors： Cui JS,Spurdle AB,Southey MC,Dite GS,Venter DJ,McCredie MR,Giles GG,Chenevix-Trench G,Hopper JL

更新日期：2003-04-01 00:00:00

abstract：:Meta-analyses of genetic association studies are usually performed using a single polymorphism at a time, even though in many cases the individual studies report results from partially overlapping sets of polymorphisms. We present here a multipoint (or multilocus) method for multivariate meta-analysis of published pop...

journal_title：Genetic epidemiology

authors： Bagos PG,Liakopoulos TD

更新日期：2010-11-01 00:00:00

abstract：:A major locus influencing apolipoprotein AI (apo AI) serum levels was detected using data from the Donner Laboratory Family Study. This locus accounts for 46% of the phenotypic variability in apo AI levels. Multivariate segregation analysis revealed that this major locus also has significant pleiotropic effects on the...

journal_title：Genetic epidemiology

authors： Blangero J,Williams-Blangero S,Mahaney MC

更新日期：1993-01-01 00:00:00

abstract：:It is commonly believed that multiple interacting genes increase the susceptibility of genetically complex diseases, yet few linkage analyses of human diseases scan for more than one locus at a time. To overcome some of the statistical and computational limitations of a simultaneous search for two disease susceptibili...

journal_title：Genetic epidemiology

authors： Schaid DJ,McDonnell SK,Carlson EE,Thibodeau SN,Ostrander EA,Stanford JL

更新日期：2007-07-01 00:00:00

abstract：:A family cancer database was constructed from the nationwide Swedish registries and includes approximately 6 million persons and >30,000 cancers in offspring diagnosed at ages 15-51 years and their parents. A particular advantage of the database is that the contribution of both parental lineages on cancer risk can be ...

journal_title：Genetic epidemiology

authors： Hemminki K,Vaittinen P

更新日期：1998-01-01 00:00:00

abstract：:Twin pairs are sometimes included in studies because at least one of them is a proband, and conventionally the analysis of the data is based on the conditional distribution of the co twin given the proband. In the case of more than one proband in each pair, an often used "ad hoc" method of analysis is to allow each tw...

journal_title：Genetic epidemiology

authors： Hindsberger C,Bryld LE

更新日期：2003-11-01 00:00:00

abstract：:We contrast the pooling of multiple data sets with the compound HLOD (HLOD-C) and the posterior probability of linkage (PPL), two approaches that have been shown to have more power in the presence of genetic heterogeneity. We also propose and evaluate several multipoint extensions. ...

journal_title：Genetic epidemiology

authors： Van Eerdewegh P,Dowd M,Dupuis J,Falls K,Hayward B,Santangelo SL

更新日期：2001-01-01 00:00:00

abstract：:Although next-generation DNA sequencing technologies have made rare variant association studies feasible and affordable, the development of powerful statistical methods for rare variant association studies is still under way. Most of the existing methods for rare variant association studies compare the number of rare ...

journal_title：Genetic epidemiology

authors： Fang S,Sha Q,Zhang S

更新日期：2012-07-01 00:00:00

abstract：:The univariate analysis of categorical twin data can be performed using either structural equation modeling (SEM) or logistic regression. This paper presents a comparison between these two methods using a simulation study. Dichotomous and ordinal (three category) twin data are simulated under two different sample size...

journal_title：Genetic epidemiology

authors： Ramakrishnan V,Meyer JM,Goldberg J,Henderson WG

更新日期：1996-01-01 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：: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

authors： Palmer LJ,Tiller KJ,Burton PR

更新日期：1999-01-01 00:00:00

abstract：:We examined the power of the stepwise iterated generalized least squares (GLS) method by modeling the relationship between quantitative traits and other variables using the simulated data for Problem 2A. The comparison between the generating model provided by the workshop and the results of the stepwise iterated GLS m...

journal_title：Genetic epidemiology

authors： He Q,Nemesure BB,Mendell NR

更新日期：1997-01-01 00:00:00

abstract：:Atopic disease is generally recognized to be familial, although specific genetic components have yet to be identified. High levels of a unique class of immunoglobulins, immunoglobulin E (IgE), have been shown to be associated with allergies. Several investigators have reported evidence indicating a recessive regulator...

journal_title：Genetic epidemiology

authors： Borecki IB,Rao DC,Lalouel JM,McGue M,Gerrard JW

更新日期：1985-01-01 00:00:00