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 heterozygote and implies that females should show less trait variation than males for an X-linked trait. The latest version of the genetic analysis program Mendel incorporates a simple variance component version of this model. An application to head circumference in autistic children illustrates Mendel in action.
journal_name
Genet Epidemioljournal_title
Genetic epidemiologyauthors
Lange K,Sobel Edoi
10.1002/gepi.20158subject
Has Abstractpub_date
2006-07-01 00:00:00pages
380-3issue
5eissn
0741-0395issn
1098-2272journal_volume
30pub_type
杂志文章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
pub_type: 杂志文章
doi:10.1002/gepi.1370050409
更新日期:1988-01-01 00:00:00
abstract::Multifactor dimensionality reduction (MDR) was developed as a nonparametric and model-free data mining method for detecting, characterizing, and interpreting epistasis in the absence of significant main effects in genetic and epidemiologic studies of complex traits such as disease susceptibility. The goal of MDR is to...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20360
更新日期:2009-01-01 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
pub_type: 杂志文章
doi:10.1002/gepi.1370060207
更新日期:1989-01-01 00:00:00
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
pub_type: 杂志文章
doi:10.1002/gepi.1370100103
更新日期:1993-01-01 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
pub_type: 杂志文章
doi:10.1002/gepi.22101
更新日期:2018-03-01 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
pub_type: 杂志文章
doi:10.1002/gepi.20400
更新日期:2009-09-01 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
pub_type: 杂志文章
doi:10.1002/gepi.21871
更新日期:2015-02-01 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
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1002/(SICI)1098-2272(1997)14:6<1097::AID-GEPI89
更新日期:1997-01-01 00:00:00
abstract::It has been suggested that collections of affected sib pairs, or their nuclear families, may be an efficient method for screening for genetic linkages in schizophrenia. We present the data collected in five years from 15 hospitals in the state of Maryland in an effort to determine if such a collection scheme will be f...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370060604
更新日期:1989-01-01 00:00:00
abstract::The availability of high-density haplotype data has motivated several fine-scale linkage disequilibrium mapping methods for locating disease-causing mutations. These methods identify loci around which haplotypes of case chromosomes exhibit greater similarity than do those of control chromosomes. A difficulty arising i...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20016
更新日期:2004-11-01 00:00:00
abstract::Contributions to Group 17 of the Genetic Analysis Workshop 15 considered dense markers in linkage disequilibrium (LD) in the context of either linkage or association analysis. Three contributions reported on methods for modeling LD or selecting a subset of markers in linkage equilibrium to perform linkage analysis. Wh...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20291
更新日期:2007-01-01 00:00:00
abstract::The research presented in group 11 of the Genetic Analysis Workshop 15 (GAW15) falls into two major themes: Model selection approaches for gene mapping (both Bayesian and Frequentist); and other Bayesian methods. These methods either allow relaxation of some of the common assumptions, such as mode of inheritance, for ...
journal_title:Genetic epidemiology
pub_type: 杂志文章,评审
doi:10.1002/gepi.20285
更新日期:2007-01-01 00:00:00
abstract::Over the past few years at least 13 transmission/disequilibrium test (TDT)-based tests have been developed for quantitative (Q) traits for the assessment of association or linkage in the presence of the other. A total of six of these QTDT methods were used to analyze log10IgE in the Collaborative Study on the Genetics...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.2001.21.s1.s312
更新日期:2001-01-01 00:00:00
abstract::With new technologies, multiple types of genomic data are commonly collected on a single set of samples. However, standard analysis methods concentrate on a single data type at a time and ignore the relationships between genes, proteins, and biochemical reactions that give rise to complex phenotypes. In this paper, we...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.21628
更新日期:2012-05-01 00:00:00
abstract::We contrast the pooling of multiple data sets with the compound HLOD (HLOD-C) and the posterior probability of linkage (PPL), two approaches that have been shown to have more power in the presence of genetic heterogeneity. We also propose and evaluate several multipoint extensions. ...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.2001.21.s1.s67
更新日期:2001-01-01 00:00:00
abstract::Association tests of multilocus haplotypes are of interest both in linkage disequilibrium mapping and in candidate gene studies. For case-parent trios, I discuss the extension of existing multilocus methods to include ambiguous haplotypes in tests of models which distinguish between the cis and trans phase. A likeliho...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.10252
更新日期:2003-09-01 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
pub_type: 杂志文章
doi:10.1002/gepi.20041
更新日期:2005-02-01 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
pub_type: 杂志文章
doi:10.1002/gepi.20365
更新日期:2009-02-01 00:00:00
abstract::A major locus that determines levels of apolipoprotein B (apoB) was revealed by likelihood analysis on 331 members of 36 pedigrees. The major locus explained 43.2% of the observed variance, with the remainder attributed to random environmental factors. Estimated mean apoB levels (mg/dl) were 110.5 +/- 2.5, 141.9 +/- 4...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370040202
更新日期:1987-01-01 00:00:00
abstract::Complex diseases are presumed to be the results of interactions of several genes and environmental factors, with each gene only having a small effect on the disease. Thus, the methods that can account for gene-gene interactions to search for a set of marker loci in different genes or across genome and to analyze these...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20304
更新日期:2008-05-01 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
pub_type: 杂志文章
doi:10.1002/gepi.1370100648
更新日期:1993-01-01 00:00:00
abstract::Investigators interested in whether a disease aggregates in families often collect case-control family data, which consist of disease status and covariate information for members of families selected via case or control probands. Here, we focus on the use of case-control family data to investigate the relative contrib...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.20454
更新日期:2010-04-01 00:00:00
abstract::Smoking has been observed to affect plasma sex hormones and body mass index. The relationship between smoking, body mass index, and plasma concentration of sex hormones was studied in normal adult male twins. The analyses were performed for between 150 and 159 twin pairs for whom hormonal data were available on both t...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/gepi.1370060303
更新日期:1989-01-01 00:00:00
abstract::Linkage analyses and association studies were employed to detect disease susceptibility loci leading to elevated Q1 levels in Problem 2B. Phenotypes were defined to be the dichotomous affection status, the quantitative value for Q1, and Q1 adjusted for covariates. The method of mod-scores (for the dichotomous phenotyp...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/(SICI)1098-2272(1997)14:6<1035::AID-GEPI79
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
pub_type: 杂志文章
doi:10.1002/gepi.21949
更新日期:2016-02-01 00:00:00
abstract::We combined the five chromosome 18 bipolar affective disorder data sets provided by GAW10, totaling 185 families with 3,394 individuals, and performed analysis of differential parental transmission and chromosome 18 marker allele sharing in families with transmission through fathers vs those through mothers. Results i...
journal_title:Genetic epidemiology
pub_type: 临床试验,杂志文章
doi:10.1002/(SICI)1098-2272(1997)14:6<665::AID-GEPI19>
更新日期:1997-01-01 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
pub_type: 杂志文章
doi:10.1002/gepi.1370060108
更新日期:1989-01-01 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
pub_type: 杂志文章
doi:10.1002/gepi.10253
更新日期:2003-11-01 00:00:00
abstract::It is generally accepted that cancer is caused by environmental and inherited factors but these are only partially identified. Family studies can be informative but they do not separate shared lifestyles and genes. We estimate familial risks for concordant cancers between spouses in common cancers of both sexes in ord...
journal_title:Genetic epidemiology
pub_type: 杂志文章
doi:10.1002/1098-2272(200102)20:2<247::AID-GEPI7>3.0.C
更新日期:2001-02-01 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
pub_type: 杂志文章
doi:10.1002/gepi.1370120613
更新日期:1995-01-01 00:00:00