Investigation of a candidate gene, environment, and G x E interaction using case-control and case-parent study designs.

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

authors： Lin JP,Bale SJ

更新日期：1997-01-01 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：: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：: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：:Cancer has predominant environmental and somatic causes but the assessment of hereditary (genetic) causes is difficult, except for highly penetrant single-gene causes. Family studies are only partially informative in this regard because family members share diet and life-styles. Twin studies have been classically used...

journal_title：Genetic epidemiology

authors： Hemminki K,Lönnstedt I,Vaittinen P,Lichtenstein P

更新日期：2001-01-01 00:00:00

abstract：:Due to the drop in sequencing cost, the number of sequenced genomes is increasing rapidly. To improve power of rare-variant tests, these sequenced samples could be used as external control samples in addition to control samples from the study itself. However, when using external controls, possible batch effects due to...

journal_title：Genetic epidemiology

authors： Lee S,Kim S,Fuchsberger C

更新日期：2017-11-01 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：:A key aim for current genome-wide association studies (GWAS) is to interrogate the full spectrum of genetic variation underlying human traits, including rare variants, across populations. Deep whole-genome sequencing is the gold standard to fully capture genetic variation, but remains prohibitively expensive for large...

journal_title：Genetic epidemiology

authors： Quick C,Anugu P,Musani S,Weiss ST,Burchard EG,White MJ,Keys KL,Cucca F,Sidore C,Boehnke M,Fuchsberger C

更新日期：2020-09-01 00:00:00

abstract：:Our aim was to develop a simple method for testing gene-environment interaction in twin data ascertained through affected twins (probands), with known exposure status of both cotwins. To this end we derived formulae for two epidemiologic measures, as a function of prevalence of an exposure and genotype, and disease ri...

journal_title：Genetic epidemiology

authors： Ottman R

更新日期：1994-01-01 00:00:00

abstract：:Kin-cohort design can be used to study the effect of a genetic mutation on the risk of multiple events, using the same study. In this design, the outcome data consist of the event history of the relatives of a sample of genotyped subjects. Existing methods for kin-cohort estimation allow estimation of the risk of one ...

journal_title：Genetic epidemiology

authors： Chatterjee N,Hartge P,Wacholder S

更新日期：2003-12-01 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

abstract：:Variable selection is growing in importance with the advent of high throughput genotyping methods requiring analysis of hundreds to thousands of single nucleotide polymorphisms (SNPs) and the increased interest in using these genetic studies to better understand common, complex diseases. Up to now, the standard approa...

journal_title：Genetic epidemiology

authors： Fridley BL

更新日期：2009-01-01 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：: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 prevalence of cardiovascular risk factors in Gerona, Spain, is high for the low myocardial infarction incidence and mortality rates in the province. Physical activity is a protective factor against coronary heart disease. We investigated whether the genetic variants Q and R of the paraoxonase Gln-Arg 192 polymorph...

journal_title：Genetic epidemiology

authors： Sentí M,Aubó C,Elosua R,Sala J,Tomás M,Marrugat J

更新日期：2000-03-01 00:00:00

abstract：:In this paper, we proposed a multipoint method to assess evidence of linkage to one region by incorporating linkage evidence from another region. This approach uses affected sib pairs in which the number of alleles shared identical by descent (IBD) is the primary statistic. This generalized estimating equation (GEE) a...

journal_title：Genetic epidemiology

authors： Liang KY,Chiu YF,Beaty TH,Wjst M

更新日期：2001-09-01 00:00:00

abstract：:DNA methylation is an important epigenetic mechanism that has been linked to complex diseases and is of great interest to researchers as a potential link between genome, environment, and disease. As the scale of DNA methylation association studies approaches that of genome-wide association studies, issues such as popu...

journal_title：Genetic epidemiology

authors： Barfield RT,Almli LM,Kilaru V,Smith AK,Mercer KB,Duncan R,Klengel T,Mehta D,Binder EB,Epstein MP,Ressler KJ,Conneely KN

更新日期：2014-04-01 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

authors： Hasstedt SJ,Wu L,Williams RR

更新日期：1987-01-01 00:00:00

abstract：:When many correlated traits are measured the potential exists to discover the coordinated control of these traits via genotyped polymorphisms. A common statistical approach to this problem involves assessing the relationship between each phenotype and each single nucleotide polymorphism (SNP) individually (PHN); and t...

journal_title：Genetic epidemiology

authors： Klei L,Luca D,Devlin B,Roeder K

更新日期：2008-01-01 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：: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：:Monte Carlo methods for linkage and segregation analysis are applied to the HGAR1 pedigree. To address these data, the methods are extended in several ways. The results are compared with those provided by PAP. ...

journal_title：Genetic epidemiology

authors： Thompson EA,Lin S,Olshen AB,Wijsman EM

更新日期：1993-01-01 00:00:00

abstract：:Standard linear regression is commonly used for genetic association studies of quantitative traits. This approach may not be appropriate if the trait, on its original or transformed scales, does not follow a normal distribution. A rank-based nonparametric approach that does not rely on any distributional assumptions c...

journal_title：Genetic epidemiology

authors： Li Q,Li Z,Zheng G,Gao G,Yu K

更新日期：2013-05-01 00:00:00

abstract：:Recent studies have found an association between presence of apolipoprotein E (APOE) epsilon 4 allele and Alzheimer's disease (AD). The present study compared the cumulative risk of primary progressive dementia (PPD) in relatives of AD probands carrying at least one copy of the epsilon 4 allele with the relatives of A...

journal_title：Genetic epidemiology

authors： Li G,Silverman JM,Altstiel LD,Haroutunian V,Perl DP,Purohit D,Birstein S,Lantz M,Mohs RC,Davis KL

更新日期：1996-01-01 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：: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：: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：:A family cancer database was constructed from the nationwide Swedish registries and includes approximately 6 million persons and >30,000 cancers in offspring diagnosed at ages 15-51 years and their parents. A particular advantage of the database is that the contribution of both parental lineages on cancer risk can be ...

journal_title：Genetic epidemiology

authors： Hemminki K,Vaittinen P

更新日期：1998-01-01 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：: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