Population-based family study designs: an interdisciplinary research framework for genetic epidemiology.

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

authors： Zhang Z,Zhang S,Wong MY,Wareham NJ,Sha Q

更新日期：2008-05-01 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：: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：:Our goal was to detect genes contributing to the P300 component of the event related potential (ERP). We found that all of the ERP traits were highly correlated. Most of them distinguished alcoholics from nonalcoholics. To have one summary variable for the ERP traits, we calculated the first principal component (PRIN1...

journal_title：Genetic epidemiology

authors： Goldin LR,Chase GA

更新日期：1999-01-01 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

authors： Javaras KN,Hudson JI,Laird NM

更新日期：2010-04-01 00:00:00

abstract：:We investigate the relevance of the genetic determination of bone mineral density (BMD) variation to that of differential risk to osteoporotic fractures (OF). The high heritability (h(2)) of BMD and the significant phenotypic correlations between high BMD and low risk to OF are well known. Little is reported on h(2) f...

journal_title：Genetic epidemiology

authors： Deng HW,Mahaney MC,Williams JT,Li J,Conway T,Davies KM,Li JL,Deng H,Recker RR

更新日期：2002-01-01 00:00:00

abstract：:Complex segregation analysis and linkage methods are mathematical techniques for the genetic dissection of complex diseases. They are used to delineate complex modes of familial transmission and to localize putative disease susceptibility loci to specific chromosomal locations. The computational problem of Bayesian li...

journal_title：Genetic epidemiology

authors： Matthysse S

更新日期：2000-01-01 00:00:00

abstract：:The complex etiology of common diseases like cardiovascular disease, diabetes, hypertension, and rheumatoid arthritis has led investigators to focus on the genetics of correlated phenotypes and risk factors. Joint analysis of multiple disease-related phenotypes may reveal genes of pleiotropic effect and increase analy...

journal_title：Genetic epidemiology

authors： Kent JW Jr

更新日期：2009-01-01 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：: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

abstract：:Elevation in plasma total homocysteine (tHcy) is believed to be causally related to cardiovascular disease. Like age and sex, the thermolabile variant of methylenetetrahydrofolate reductase (MTHFR(C677T)) is an important nonmodifiable determinant of tHcy, which may be considered when describing normal ranges of tHcy i...

journal_title：Genetic epidemiology

authors： Husemoen LL,Thomsen TF,Fenger M,Jørgensen HL,Jørgensen T

更新日期：2003-05-01 00:00:00

abstract：:We analyzed the GAW11 data on alcoholism provided by the Collaborative Study on the Genetics of Alcoholism (COGA) using an extension of a new test of linkage and association for quantitative traits developed by George et al. [1999]. This method determines linkage between marker loci and quantitative traits, when allel...

journal_title：Genetic epidemiology

authors： Tiwari HK,Zhu X,Elston RC,Shu Y,George V

更新日期：1999-01-01 00:00:00

abstract：:A recently developed nonparametric method is a generalization of the transmission disequilibrium test across all alleles of a locus. This approach has been applied to Problem 2 of GAW10 and has been extended to explore the combined contribution of neighboring loci for chromosomes 1, 5, and 8. When applied to the chrom...

journal_title：Genetic epidemiology

authors： Neas BR,Moser KL,Harley JB

更新日期：1997-01-01 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：: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：:Using a recently developed semiparametric method for combined linkage/linkage-disequilibrium analysis, we analyzed the Collaborative Study on the Genetics of Alcoholism data subset developed for Genetic Analysis Workshop 11 (GAW11). This semiparametric approach estimates recombination fractions for linkage, marker log...

journal_title：Genetic epidemiology

authors： Aragaki C,Quiaoit F,Hsu L,Zhao LP

更新日期：1999-01-01 00:00:00

abstract：:Over the past few years, an increasing number of studies have identified rare variants that contribute to trait heritability. Due to the extreme rarity of some individual variants, gene-based association tests have been proposed to aggregate the genetic variants within a gene, pathway, or specific genomic region as op...

journal_title：Genetic epidemiology

authors： He Z,Lee S,Zhang M,Smith JA,Guo X,Palmas W,Kardia SLR,Ionita-Laza I,Mukherjee B

更新日期：2017-12-01 00:00:00

abstract：:Advances in high throughput technology have enabled the generation of unprecedented amounts of genomic data (e.g., next-generation sequence data, transcriptomics, metabolomics, and proteomics), which promises to unravel the genetic architecture of complex traits. These discoveries may lead to novel therapeutic targets...

journal_title：Genetic epidemiology

authors： Lee SM,Karrison TG,Cox NJ,Im HK

更新日期：2013-12-01 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：: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：: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：: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：: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：: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：: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：:Variance component linkage analysis is commonly used to map quantitative trait loci (QTLs) in general pedigrees. Large pedigrees are especially attractive for these studies because they provide greater power per genotyped individual than small pedigrees. We propose accurate and computationally efficient methods to cal...

journal_title：Genetic epidemiology

authors： Chen WM,Abecasis GR

更新日期：2006-09-01 00:00:00

abstract：:Methods to account for population structure (PS) in genome-wide association studies have been well developed in samples of unrelated individuals, but when a sample is composed of families, the task of finding and accounting for PS is not as straight forward. Family-based tests that condition on parental genotypes or t...

journal_title：Genetic epidemiology

authors： Peloso GM,Dupuis J,Lunetta KL

更新日期：2011-09-01 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：: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：: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