Rank-based robust tests for quantitative-trait genetic association studies.

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：:We examined the inheritance of juvenile myoclonic epilepsy (JME). We looked at both the trait of "epilepsy" and the trait of "epilepsy-plus-EEG abnormalities," since EEG abnormalities are frequently found in the clinically unaffected sibs of JME patients. We tested several modes of inheritance including the fully pene...

journal_title：Genetic epidemiology

authors： Greenberg DA,Delgado-Escueta AV,Maldonado HM,Widelitz H

更新日期：1988-01-01 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：: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：: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：:In an earlier paper, positive but nonsignificant lod scores were found in pair-wise linkage tests between multiple endocrine neoplasia type 2A (MEN-2A) and both the haptoglobin (HP) locus on chromosome 16 and group-specific component (GC) locus on chromosome 4. Recently discovered restriction fragment length polymorph...

journal_title：Genetic epidemiology

authors： Kidd KK,Kidd JR,Castiglione CM,Pakstis AJ,Sparkes RS

更新日期：1986-01-01 00:00:00

abstract：:Site-specific familial aggregation and evidence supporting Mendelian codominant inheritance have been shown in lung cancer. In characterizing lung cancer families, a number of other cancers have been observed. The current study evaluates whether first-degree relatives of early onset lung cancer cases are at increased ...

journal_title：Genetic epidemiology

authors： Schwartz AG,Siegfried JM,Weiss L

更新日期：1999-11-01 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：:GAW10 Problem 2 involves a simulated common disease defined by imposing a threshold, T, on a quantitative trait, Q1. Every individual with a value of Q1 > or = T (where T = 40) is defined as affected. Also thought to be associated with the disease as intervening variables are four other quantitative traits (Q2, Q3, Q4...

journal_title：Genetic epidemiology

authors： MacCluer JW,Blangero J,Dyer TD,Speer MC

更新日期：1997-01-01 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 asymptotic distribution of [MOD] scores under the null hypothesis of no linkage is only known for affected sib pairs and other types of affected relative pairs. We have extended the GENEHUNTER-MODSCORE program to allow for simulations under the null hypothesis of no linkage to determine the empirical significance ...

journal_title：Genetic epidemiology

authors： Mattheisen M,Dietter J,Knapp M,Baur MP,Strauch K

更新日期：2008-01-01 00:00:00

abstract：:There has been a great interest and a few successes in the identification of complex disease susceptibility genes in recent years. Association studies, where a large number of single-nucleotide polymorphisms (SNPs) are typed in a sample of cases and controls to determine which genes are associated with a specific dise...

journal_title：Genetic epidemiology

authors： Bureau A,Dupuis J,Falls K,Lunetta KL,Hayward B,Keith TP,Van Eerdewegh P

更新日期：2005-02-01 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：: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：:The present report summarizes findings on 670 cases of autosomal trisomy diagnosed in Scotland, with actual or expected dates of delivery in 1990 to 1994 inclusive. Cases were notified by cytogenetic service laboratories. There were 277 prenatal and 369 postnatal diagnoses and 24 spontaneous losses. Excluding the latt...

journal_title：Genetic epidemiology

authors： Carothers AD,Boyd E,Lowther G,Ellis PM,Couzin DA,Faed MJ,Robb A

更新日期：1999-01-01 00:00:00

abstract：:The heritability of most complex traits is driven by variants throughout the genome. Consequently, polygenic risk scores, which combine information on multiple variants genome-wide, have demonstrated improved accuracy in genetic risk prediction. We present a new two-step approach to constructing genome-wide polygenic ...

journal_title：Genetic epidemiology

authors： Newcombe PJ,Nelson CP,Samani NJ,Dudbridge F

更新日期：2019-10-01 00:00:00

abstract：:Systemic lupus erythematosus (SLE) is a complex disease which is partly determined by genetic factors which influence susceptibility to the disease phenotype. In this association study we try to define the high risk haplotypes which are responsible for this disease, together with other environmental factors. In many o...

journal_title：Genetic epidemiology

authors： Seuchter SA,Knapp M,Hartung K,Coldewey R,Kalden JR,Lakomek HJ,Peter HH,Deicher H,Baur MP

更新日期：1991-01-01 00:00:00

abstract：:This study is an investigation of the relationship between apolipoprotein E (apoE) phenotype, arterial disease, and mortality in a group of women (n = 1,751) aged 65 years and older enrolled in the Study of Osteoporotic Fractures. Crude mortality rates were highest among women with the 4-3 and 4-4 phenotypes but age-a...

journal_title：Genetic epidemiology

authors： Vogt MT,Cauley JA,Kuller LH

更新日期：1997-01-01 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：: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：:Testing for association between two random vectors is a common and important task in many fields, however, existing tests, such as Escoufier's RV test, are suitable only for low-dimensional data, not for high-dimensional data. In moderate to high dimensions, it is necessary to consider sparse signals, which are often ...

journal_title：Genetic epidemiology

authors： Xu Z,Xu G,Pan W,Alzheimer's Disease Neuroimaging Initiative.

更新日期：2017-11-01 00:00:00

abstract：:Different maximum likelihood approaches were used to explore the role of candidate genes in the variability of quantitative trait Q1 while accounting for the effects of age, Q2, and Q3. Segregation analysis, under the class D regressive model, provides evidence for a Mendelian gene effect on the adjusted trait Q1. Res...

journal_title：Genetic epidemiology

authors： Martinez M,Abel L,Demenais F

更新日期：1995-01-01 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 subjected the first replication of the simulated isolated population data set to a novel analysis for association between marker alleles and either disease phenotypes or quantitative variable. The analysis depends on being able to reliably reconstruct all haplotypes in the pedigree. This was achieved using the MCLI...

journal_title：Genetic epidemiology

authors： Gutin A,Abkevich V,Camp NJ,Farnham JM,Cannon-Albright L,Thomas A

更新日期：2001-01-01 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：: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：:Hybrid designs arose from an effort to combine the benefits of family-based and population-based study designs. A recently proposed hybrid approach augments case-parent triads with population-based control-parent triads, genotyping everyone except the control offspring. Including parents of controls substantially impr...

journal_title：Genetic epidemiology

authors： Vermeulen SH,Shi M,Weinberg CR,Umbach DM

更新日期：2009-02-01 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 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：: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