Genetic and environmental causes of variation in renal tubular handling of sodium and potassium: a twin study.

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：:Previous transcriptome-wide association studies (TWAS) have identified breast cancer risk genes by integrating data from expression quantitative loci and genome-wide association studies (GWAS), but analyses of breast cancer subtype-specific associations have been limited. In this study, we conducted a TWAS using gene ...

journal_title：Genetic epidemiology

authors： Feng H,Gusev A,Pasaniuc B,Wu L,Long J,Abu-Full Z,Aittomäki K,Andrulis IL,Anton-Culver H,Antoniou AC,Arason A,Arndt V,Aronson KJ,Arun BK,Asseryanis E,Auer PL,Azzollini J,Balmaña J,Barkardottir RB,Barnes DR,Barrowda

更新日期：2020-07-01 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：:Construction of multifactorial disease models from epidemiological findings and their application to disease pedigrees for risk prediction is nontrivial for all but the simplest of cases. Multifactorial Disease Risk Calculator is a web tool facilitating this. It provides a user-friendly interface, extending a reported...

journal_title：Genetic epidemiology

authors： Campbell DD,Li Y,Sham PC

更新日期：2018-03-01 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：: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：:A highly significant familial aggregation of eosinophil levels (X2(3) = 38.00) was detected in a sample from three Brazilian populations with a high incidence of helminthic parasitism. The data were unable to resolve genetic or common environment causation due to the lack of environmental concomitant variables. Result...

journal_title：Genetic epidemiology

authors： Moro-Furlani AM,Krieger H

更新日期：1992-01-01 00:00:00

abstract：:Large-scale meta-analyses of genome-wide association scans (GWAS) have been successful in discovering common risk variants with modest and small effects. The detection of lower frequency signals will undoubtedly require concerted efforts of at least similar scale. We investigate the sample size-dictated power limits o...

journal_title：Genetic epidemiology

authors： Chapman K,Ferreira T,Morris A,Asimit J,Zeggini E

更新日期：2011-12-01 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：:Next-generation sequencing (NGS) has led to the study of rare genetic variants, which possibly explain the missing heritability for complex diseases. Most existing methods for rare variant (RV) association detection do not account for the common presence of sequencing errors in NGS data. The errors can largely affect ...

journal_title：Genetic epidemiology

authors： He L,Pitkäniemi J,Sarin AP,Salomaa V,Sillanpää MJ,Ripatti S

更新日期：2015-02-01 00:00:00

abstract：:Sequencing studies using whole-genome or exome scans are still more expensive than genome-wide association studies on a per-subject basis. As a result, only a subset of subjects from a larger study will be selected for sequencing. To perform an agnostic investigation of the entire genome, subjects may be selected that...

journal_title：Genetic epidemiology

authors： Edwards TL,Li C

更新日期：2012-07-01 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：:Multipoint linkage analysis using sibpair designs remains a common approach to help investigators to narrow chromosomal regions for traits (either qualitative or quantitative) of interest. Despite its popularity, the success of this approach depends heavily on how issues such as genetic heterogeneity, gene-gene, and g...

journal_title：Genetic epidemiology

authors： Chiou JM,Liang KY,Chiu YF

更新日期：2005-01-01 00:00:00

abstract：:Asthma and atopy are two closely related, common complex traits in which a number of genetic and environmental factors are suspected to play a role. We have performed parametric and nonparametric multi-marker linkage analysis for the Busselton data set, which is part of problem 1 of Genetic Analysis Workshop 12. In pa...

journal_title：Genetic epidemiology

authors： Strauch K,Bogdanow M,Fimmers R,Baur MP,Wienker TF

更新日期：2001-01-01 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：:As part of Genetic Analysis Workshop 17 (GAW17), our group considered the application of novel and standard approaches to the analysis of genotype-phenotype association in next-generation sequencing data. Our group identified a major issue in the analysis of the GAW17 next-generation sequencing data: type I error and ...

journal_title：Genetic epidemiology

authors： Tintle N,Aschard H,Hu I,Nock N,Wang H,Pugh E

更新日期：2011-01-01 00:00:00

abstract：:The aim of this population-based study was to determine whether asthma aggregates in families, and if so, whether aggregation was consistent with environmental and/or genetic etiologies. Data were from 7,394 nuclear families (41,506 individuals) from the 1968 Tasmanian Asthma Survey, in which all Tasmanian schoolchild...

journal_title：Genetic epidemiology

authors： Jenkins MA,Hopper JL,Giles GG

更新日期：1997-01-01 00:00:00

abstract：:Healthy male monozygotic (MZ) and dizygotic (DZ) twin pairs (MZ pairs = 77; DZ pairs = 88) were studied to assess the effect of dietary intake, physical activity, physical fitness, body mass index (BMI), sum of the triceps and subscapular skinfold measurements, alcohol and caffeine consumption, and smoking patterns on...

journal_title：Genetic epidemiology

authors： Slattery ML,Bishop DT,French TK,Hunt SC,Meikle AW,Williams RR

更新日期：1988-01-01 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：: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：:Artificial neural networks were applied to the alcoholism data to reveal nonlinear relationships between intermediate phenotypes, marker identity-by-descent sharing, and the affection status. A variable number of hidden units were considered to achieve a balance between the minimal mean-squared error and over-fitting ...

journal_title：Genetic epidemiology

authors： Li W,Haghighi F,Falk CT

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 potential of genome-wide association analysis can only be realized when they have power to detect signals despite the detrimental effect of multiple testing on power. We develop a weighted multiple testing procedure that facilitates the input of prior information in the form of groupings of tests. For each group a...

journal_title：Genetic epidemiology

authors： Roeder K,Devlin B,Wasserman L

更新日期：2007-11-01 00:00:00

abstract：:Genome-wide association studies are proven tools for finding disease genes, but it is often necessary to combine many cohorts into a meta-analysis to detect statistically significant genetic effects. Often the component studies are performed by different investigators on different populations, using different chips wi...

journal_title：Genetic epidemiology

authors： Begum F,Sharker MH,Sherman SL,Tseng GC,Feingold E

更新日期：2016-02-01 00:00:00

abstract：:The large number of tests performed in analyzing data from genome-wide association studies has a large impact on the power of detecting risk variants, and analytic strategies specifying the optimal set of hypotheses to be tested are necessary. We propose a genome-wide strategy that is based on one degree of freedom te...

journal_title：Genetic epidemiology

authors： Nicolae DL

更新日期：2006-12-01 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：:Noncoding DNA contains gene regulatory elements that alter gene expression, and the function of these elements can be modified by genetic variation. Massively parallel reporter assays (MPRA) enable high-throughput identification and characterization of functional genetic variants, but the statistical methods to identi...

journal_title：Genetic epidemiology

authors： Qiao D,Zigler CM,Cho MH,Silverman EK,Zhou X,Castaldi PJ,Laird NH

更新日期：2020-10-01 00:00:00

abstract：:This paper discusses the theory and implementation of a model for mapping X-linked quantitative trait loci (QTL). As a result of X inactivation, a female's body is subdivided into a number of patches. In each patch one of her two X chromosomes is randomly switched off. This smooths the allelic contributions in a heter...

journal_title：Genetic epidemiology

authors： Lange K,Sobel E

更新日期：2006-07-01 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：: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