Genetic analysis of a complex disease in the presence of an environmental risk factor.

abstract：:alpha 1-antitrypsin (alpha 1 AT) deficiency is variably associated with the development of pulmonary emphysema. To gain insight into the process which begins the Z point mutation at the Protease Inhibitor (Pi) locus and results in the variable development of emphysema, three quantitative phenotypes, including total al...

journal_title：Genetic epidemiology

authors： Silverman EK,Province MA,Campbell EJ,Pierce JA,Rao DC

更新日期：1990-01-01 00:00:00

abstract：:Several statistical tests for linkage between a disease susceptibility locus and a marker locus for sib-pair data are examined analytically. Two common statistics, a test based on the mean number of marker alleles shared identical by descent by sib-pairs, and a test based on the proportion of sib-pairs sharing exactly...

journal_title：Genetic epidemiology

authors： Schaid DJ,Nick TG

更新日期：1990-01-01 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：: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：: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：: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：: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：: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 informat...

journal_title：Genetic epidemiology

authors： Martin RB,Alda M,MacLean CJ

更新日期：1998-01-01 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：: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：: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：: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：:Path analysis of family data has been widely applied to resolve genetic and environmental patterns of familial resemblance. A prevalent statistical approach in path analysis has been, first, to estimate the familial correlations and, second, by assuming these estimates to be independently distributed, define a likelih...

journal_title：Genetic epidemiology

authors： McGue M,Wette R,Rao DC

更新日期：1984-01-01 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：:A genome-wide correlation analysis and cluster analysis were utilized to determine chromosomal regions that had similar nonparametric linkage scores across families in order to locate interacting susceptibility loci for asthma. Conditional analysis was performed to detect any increase in lod score over baseline. Eight...

journal_title：Genetic epidemiology

authors： Colilla S,Tsalenko A,Pluznikov A,Cox NJ

更新日期：2001-01-01 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：:We address the analytical problem of evaluating the evidence for linkage at a test locus while taking into account the effect of a known linked disease locus. The method we propose is a multimarker regression approach that models the identity-by-descent states for affected sib-pairs at a series of linked markers in te...

journal_title：Genetic epidemiology

authors： Barber MJ,Todd JA,Cordell HJ

更新日期：2006-04-01 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 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：: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：:Gene-gene interaction is believed to play an important role in understanding complex traits. Multifactor dimensionality reduction (MDR) was proposed by Ritchie et al. [2001. Am J Hum Genet 69:138-147] to identify multiple loci that simultaneously affect disease susceptibility. Although the MDR method has been widely u...

journal_title：Genetic epidemiology

authors： Namkung J,Elston RC,Yang JM,Park T

更新日期：2009-11-01 00:00:00

abstract：:We describe an extension to the TDT (transmission/disequilibrium test) which allows for more than two marker alleles and for covariates measured on the parent or offspring. We also describe a systematic genomic search where the mod score (maximized lod score) is computed for each marker under constraints on the popula...

journal_title：Genetic epidemiology

authors： Rice JP,Neuman RJ,Hoshaw SL,Daw EW,Gu C

更新日期：1995-01-01 00:00:00

abstract：:The inheritance of pyloric stenosis is explained by a multifactorial threshold model with an underlying assumption that the liability for the disease is distributed in males and females showing a sex dimorphism. From the available data on familial occurrences of pyloric stenosis, it is shown, that an extra maternal ef...

journal_title：Genetic epidemiology

authors： Chakraborty R

更新日期：1986-01-01 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：:The aim of this paper is to generalize permutation methods for multiple testing adjustment of significant partial regression coefficients in a linear regression model used for microarray data. Using a permutation method outlined by Anderson and Legendre [1999] and the permutation P-value adjustment from Simon et al. [...

journal_title：Genetic epidemiology

authors： Wagner BD,Zerbe GO,Mexal S,Leonard SS

更新日期：2008-01-01 00:00:00

abstract：:Most complex traits such as cancer and coronary heart diseases are attributed either to heritable factors or to environmental factors or to both. Dissecting the genetic and environmental etiology of complex traits thus requires an interdisciplinary research strategy. Genetic studies generally involve families and inve...

journal_title：Genetic epidemiology

authors： Zhao LP,Hsu L,Davidov O,Potter J,Elston RC,Prentice RL

更新日期：1997-01-01 00:00:00

abstract：:For many clinical studies in cancer, germline DNA is prospectively collected for the purpose of discovering or validating single-nucleotide polymorphisms (SNPs) associated with clinical outcomes. The primary clinical endpoint for many of these studies are time-to-event outcomes such as time of death or disease progres...

journal_title：Genetic epidemiology

authors： Owzar K,Li Z,Cox N,Jung SH

更新日期：2012-09-01 00:00:00

abstract：:To better understand the contribution of major gene influences to individual differences in cardiovascular reactivity, we performed a segregation analysis on blood pressure responses to two laboratory tasks, mental arithmetic and bicycle exercise. The study population consisted of 1,451 adults (age > or = 18 years) wh...

journal_title：Genetic epidemiology

authors： Cheng LS,Carmelli D,Hunt SC,Williams RR

更新日期：1997-01-01 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：:We propose methods to construct meiotic gene maps while controlling the probability of a decision-error. First, a single step gene ordering procedure is presented whose decision-error probability is bounded above by a prespecified threshold. The bound for the error probability is valid under quite general circumstance...

journal_title：Genetic epidemiology

authors： Rogatko A,Babb J,Jordan H,Zacks S

更新日期：1999-01-01 00:00:00