New simple tests for age-at-onset anticipation: application to panic disorder.

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：:We have conducted a simulation study in small pedigrees to investigate the power to detect linkage and heterogeneity for a disorder due to either one of two independent disease loci. We have considered a highly polymorphic marker locus (PIC = 70%) linked to one disease locus and unlinked to the second. The power to de...

journal_title：Genetic epidemiology

authors： Martinez M,Goldin LR

更新日期：1990-01-01 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：:Human apolipoprotein A-IV (APO A-IV) exhibits a common protein polymorphism detectable by isoelectric focusing (IEF) due to a single base substitution at codon 360 which replaces the frequently occurring glutamine residue (allele 1) with histidine (allele 2). Recently, sequence analysis of the APO A-IV coding region h...

journal_title：Genetic epidemiology

authors： Kamboh MI,Hamman RF,Ferrell RE

更新日期：1992-01-01 00:00:00

abstract：:Epigenome-wide association studies (EWAS) are designed to characterise population-level epigenetic differences across the genome and link them to disease. Most commonly, they assess DNA-methylation status at cytosine-guanine dinucleotide (CpG) sites, using platforms such as the Illumina 450k array that profile a subse...

journal_title：Genetic epidemiology

authors： Saffari A,Silver MJ,Zavattari P,Moi L,Columbano A,Meaburn EL,Dudbridge F

更新日期：2018-02-01 00:00:00

abstract：:Nontraditional glycemic biomarkers, including fructosamine, glycated albumin, and 1,5-anhydroglucitol (1,5-AG) are potential alternatives or complement to traditional measures of hyperglycemia. Genetic variants are associated with these biomarkers, but the heritability, or extent to which genetics control their variat...

journal_title：Genetic epidemiology

authors： Loomis SJ,Tin A,Coresh J,Boerwinkle E,Pankow JS,Köttgen A,Selvin E,Duggal P

更新日期：2019-10-01 00:00:00

abstract：:The multiplicity problem has become increasingly important in genetic studies as the capacity for high-throughput genotyping has increased. The control of False Discovery Rate (FDR) (Benjamini and Hochberg. [1995] J. R. Stat. Soc. Ser. B 57:289-300) has been adopted to address the problems of false positive control an...

journal_title：Genetic epidemiology

authors： Sun L,Craiu RV,Paterson AD,Bull SB

更新日期：2006-09-01 00:00:00

abstract：:The genotypes of individuals in replicate genetic association studies have some level of correlation due to shared descent in the complete pedigree of all living humans. As a result of this genealogical sharing, replicate studies that search for genotype-phenotype associations using linkage disequilibrium between mark...

journal_title：Genetic epidemiology

authors： Rosenberg NA,Vanliere JM

更新日期：2009-09-01 00:00:00

abstract：:The prevalence rate for autoimmune thyroid disease (ATD) is about 30 times higher in the type I diabetic (IDDM) families that were ascertained for Genetic Analysis Workshop 5 (GAW5) than in the general population. Two approaches were used to study the clustering of ATD and IDDM in these families: 1) HLA haplotype shar...

journal_title：Genetic epidemiology

authors： Payami H,Joe S,Thomson G

更新日期：1989-01-01 00:00:00

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：: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：: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：: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：:We set out to apply conventional analytic methods to a GAW data set of nuclear families with an oligogenic disease that has a population prevalence of 0.023. We chose methods generally applied to disorders with at least one major gene. Our approaches included: 1) complex segregation analysis under two models of ascert...

journal_title：Genetic epidemiology

authors： Falk CT,Ashley A,Lamb N,Sherman SL

更新日期：1995-01-01 00:00:00

abstract：:Results of studies for the association of BRCA1 genotypes and haplotypes with sporadic breast cancer have been inconsistent. Therefore, a candidate single nucleotide polymorphism (SNP) approach was used in a breast cancer case-control study to explore genotypes and haplotypes that have the potential to affect protein ...

journal_title：Genetic epidemiology

authors： Ricks-Santi LJ,Nie J,Marian C,Ochs-Balcom HM,Trevisan M,Edge SB,Kanaan Y,Freudenheim JL,Shields PG

更新日期：2013-07-01 00:00:00

abstract：:Methods for genetic risk prediction have been widely investigated in recent years. However, most available training data involves European samples, and it is currently unclear how to accurately predict disease risk in other populations. Previous studies have used either training data from European samples in large sam...

journal_title：Genetic epidemiology

authors： Márquez-Luna C,Loh PR,South Asian Type 2 Diabetes (SAT2D) Consortium.,SIGMA Type 2 Diabetes Consortium.,Price AL

更新日期：2017-12-01 00:00:00

abstract：:The purpose of the current study was to utilize the Genetic Analysis Workshop 12 simulated data to evaluate fine-mapping strategies for quantitative traits. We approached the analysis as if it was a follow-up to a genome scan that had identified two regions of interest and used the provided 1-cM density microsatellite...

journal_title：Genetic epidemiology

authors： Heard-Costa NL,Demissie S,DeStefano AL,Knowlton BA,Maher NE,Myers RH,Volcjak JS,Wilk JB,Cupples LA

更新日期：2001-01-01 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：: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：: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：:HLA-A, -B, -C, -DR, and -DQ typings of the Schmiedeleut Hutterites of South Dakota were collected as part of an ongoing genetic-epidemiologic study of HLA and fertility. A total of 1,082 individuals, including 852 married adults representative of the reproductive population of this isolate, were characterized for five...

journal_title：Genetic epidemiology

authors： Dawson DV,Ober C,Kostyu DD

更新日期：1995-01-01 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：: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：:A dense set of 5,000 SNPs on a 10-Mb region of human chromosome 20 has been typed on samples of African Americans, East Asians, and United Kingdom Caucasians. There are departures from Hardy-Weinberg equilibrium beyond the level at which markers are often discarded because of possible genotyping errors. The observatio...

journal_title：Genetic epidemiology

authors： Weir BS,Hill WG,Cardon LR,SNP Consortium.

更新日期：2004-12-01 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：: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：:Simulation studies were conducted to assess to what extent the conclusions of segregation analysis, performed under the unified model, can be affected by the presence of unmeasured environmental factors shared by family members. Dichotomous data were generated on six-member nuclear families under two variants of the m...

journal_title：Genetic epidemiology

authors： Demenais F,Abel L

更新日期：1989-01-01 00:00:00

abstract：:The restricted partition method (RPM) is a partitioning algorithm for examining multi-locus genotypes as (potentially non-additive) predictors of a quantitative trait. The motivating application was to develop a robust method to examine quantitative phenotypes for epistasis (gene-gene interactions), but the method can...

journal_title：Genetic epidemiology

authors： Culverhouse R,Klein T,Shannon W

更新日期：2004-09-01 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：: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