Identification of susceptibility loci contributing to a complex disease using conventional segregation, linkage, and association methods.

abstract：:When testing for genetic effects, failure to account for a gene-environment interaction can mask the true association effects of a genetic marker with disease. Family-based association tests are popular because they are completely robust to population substructure and model misspecification. However, when testing for ...

journal_title：Genetic epidemiology

authors： Hoffmann TJ,Lange C,Vansteelandt S,Laird NM

更新日期：2009-12-01 00:00:00

abstract：:The role of a gene in a disease may be hidden by the presence of another risk factor such as an environmental factor. In that case, stratifying the data according to this factor strengthens power to detect linkage or association. We followed this strategy on the simulated data provided by GAW11. The transmission/diseq...

journal_title：Genetic epidemiology

authors： Eichenbaum-Voline S,Baur MP,Knapp M

更新日期：1999-01-01 00:00:00

abstract：:The present findings for familial Alzheimer's disease suggest a possible linkage to gene(s) on chromosome 21 for the early onset form and to chromosome 19 for the late onset. Since these results are not unequivocal, possible alternative hypotheses include the effect of genetic heterogeneity or of an oligogenic model o...

journal_title：Genetic epidemiology

authors： Macciardi F,Cavallini MC

更新日期：1993-01-01 00:00:00

abstract：:Meta-analysis has been little explored to make an overall assessment of linkage from different studies. In practice, it is likely that published linkage studies will only report p-values. We compared the performance of the widely used Fisher method for combining p-values with that of pooling raw data. More loci were c...

journal_title：Genetic epidemiology

authors： Guerra R,Etzel CJ,Goldstein DR,Sain SR

更新日期：1999-01-01 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：: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：:To evaluate the risk of a disease associated with the joint effects of genetic susceptibility and environmental exposures, epidemiologic researchers often test for non-multiplicative gene-environment effects from case-control studies. In this article, we present a comparative study of four alternative tests for intera...

journal_title：Genetic epidemiology

authors： Mukherjee B,Ahn J,Gruber SB,Rennert G,Moreno V,Chatterjee N

更新日期：2008-11-01 00:00:00

abstract：:The following Gm and Km immunoglobulin allotypes were determined on the Genetic Analysis Workshop 5 insulin-dependent diabetes mellitus (GAW5 IDDM) families: G1m (1,2,3,17), G2m (23), G3m (5,10,11,13,14,21,28) and Km (1,3). Since the allotype G2m (23) has been rarely studied, due to paucity of typing reagents, it was ...

journal_title：Genetic epidemiology

authors： Field LL,Dugoujon JM

更新日期：1989-01-01 00:00:00

abstract：:Regressive models that incorporate measured variables and assumed genetic parameters were used to detect interactions between gene, research site, and environmental variables in GAW11 Problem 2. Replicates 1 to 5 were used in the analyses. Significant three-way gene x environment x site interactions were seen for all ...

journal_title：Genetic epidemiology

authors： Shin J,Corey M

更新日期：1999-01-01 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：: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：:Understanding the genetic background of complex diseases and disorders plays an essential role in the promising precision medicine. The evaluation of candidate genes, however, requires time-consuming and expensive experiments given a large number of possibilities. Thus, computational methods have seen increasing appli...

journal_title：Genetic epidemiology

authors： Zhang Y,Chen Y,Hu T

更新日期：2020-06-01 00:00:00

abstract：:The growing interest in detection of genetic effects for complex traits along with molecular revolution has stimulated many linkage studies. Multiple replication studies tend to produce different results. In such situations, rigorous meta-analysis methods can be useful for assessing the overall evidence for linkage. W...

journal_title：Genetic epidemiology

authors： Li Z,Rao DC

更新日期：1996-01-01 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：:With challenges in data harmonization and environmental heterogeneity across various data sources, meta-analysis of gene-environment interaction studies can often involve subtle statistical issues. In this paper, we study the effect of environmental covariate heterogeneity (within and between cohorts) on two approache...

journal_title：Genetic epidemiology

authors： Li S,Mukherjee B,Taylor JM,Rice KM,Wen X,Rice JD,Stringham HM,Boehnke M

更新日期：2014-07-01 00:00:00

abstract：:Association mapping for complex diseases using unrelated individuals can be more powerful than family-based analysis in many settings. In addition, this approach has major practical advantages, including greater efficiency in sample recruitment. Association mapping may lead to false-positive findings, however, if popu...

journal_title：Genetic epidemiology

authors： Zhu X,Zhang S,Zhao H,Cooper RS

更新日期：2002-08-01 00:00:00

abstract：:Population stratification (PS) can lead to an inflated rate of false-positive findings in genome-wide association studies (GWAS). The commonly used approach of adjustment for a fixed number of principal components (PCs) could have a deleterious impact on power when selected PCs are equally distributed in cases and con...

journal_title：Genetic epidemiology

authors： Li Q,Wacholder S,Hunter DJ,Hoover RN,Chanock S,Thomas G,Yu K

更新日期：2009-07-01 00:00:00

abstract：:Path analysis of nuclear family data has been widely applied to resolve genetic and environmental sources of familial resemblance. Here we report the results of a systematic evaluation of the effects of departures from five modeling assumptions often made when analyzing nuclear family data; i) the observed environment...

journal_title：Genetic epidemiology

authors： McGue M,Wette R,Rao DC

更新日期：1989-01-01 00:00:00

abstract：:The study of the genetic component of early-onset diseases requires investigation into parental genetic effects, particularly those mediated by the mother who can influence the offspring's risk of disease through the effects of her genes acting directly on the intrauterine milieu or indirectly through maternal-gene ch...

journal_title：Genetic epidemiology

authors： Bourgey M,Healy J,Saint-Onge P,Massé H,Sinnett D,Roy-Gagnon MH

更新日期：2011-09-01 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：: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：:A method is described for estimating excess relative risks of a disease from familial factors. Beginning with population-based series of cases and controls, a cohort of each subject's relatives is formed and checked for disease against a population based registry. The disease experience of the cohort formed from each ...

journal_title：Genetic epidemiology

authors： Kerber RA

更新日期：1995-01-01 00:00:00

abstract：:Orientals consisting of Japanese, Chinese, Koreans, and Filipinos are clearly at higher risk for cleft lip with or without cleft palate [CL(P)] than whites, Puerto Ricans, and Hawaiians/part-Hawaiians in Hawaii. Using the model of diallele cross, CL(P) incidences in incrosses and outcrosses involving 564,002 live birt...

journal_title：Genetic epidemiology

authors： Chung CS,Mi MP,Beechert AM

更新日期：1987-01-01 00:00:00

abstract：:The association between insulin-dependent diabetes mellitus (IDDM) and an allele of a restriction fragment length polymorphism (RFLP) 5' to the coding region of the insulin gene has raised the possibility that variation in the vicinity of the insulin gene confers susceptibility to IDDM. To test this hypothesis, the di...

journal_title：Genetic epidemiology

authors： Cox NJ,Spielman RS

更新日期：1989-01-01 00:00:00

abstract：:The use of patterned covariance matrices in forming pedigree-based mixed models for quantitative traits is discussed. It is suggested that patterned covariance matrix models provide intuitive, theoretically appealing, and flexible genetic modeling devices for pedigree data. It is suggested further that the very great ...

journal_title：Genetic epidemiology

authors： Schork N

更新日期：1991-01-01 00:00:00

abstract：:Testing association between a genetic marker and multiple-dependent traits is a challenging task when both binary and quantitative traits are involved. The inverted regression model is a convenient method, in which the traits are treated as predictors although the genetic marker is an ordinal response. It is known tha...

journal_title：Genetic epidemiology

authors： Yan T,Li Q,Li Y,Li Z,Zheng G

更新日期：2013-09-01 00:00:00

abstract：:Extensions of the approach to sib-pair linkage tests developed by Haseman and Elston [Behav Genet 2:3-19, 1972] are proposed which incorporate information on age of onset and age at examination. Alternate sources for the age of onset corrections are described, including models for the estimation of parameters associat...

journal_title：Genetic epidemiology

authors： Dawson DV,Kaplan EB,Elston RC

更新日期：1990-01-01 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：: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：:Rheumatoid arthritis is an inflammatory disease for which positive associations have been described with some HLA-DRB1 alleles. The associated alleles share a similar amino acid sequence in the third hypervariable region, the shared epitope, but differ at position 71 and 86. It has been suggested that HLA susceptibili...

journal_title：Genetic epidemiology

authors： Tézenas du Montcel S,Reviron D,Genin E,Roudier J,Mercier P,Clerget-Darpoux F

更新日期：2000-12-01 00:00:00