Analysis of breast cancer pedigrees using affected sibship methods.

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：: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：:In traits suspected to be governed by at least two loci, linkage analysis incorporating the joint action of both loci may improve the power to detect linkage, increase the precision of estimating locus positions and provide insight into the underlying etiological mechanism. Recently, we mapped two susceptibility loci ...

journal_title：Genetic epidemiology

authors： Pinto D,Kasteleijn-Nolst Trenité DG,Cordell HJ,Mattheisen M,Strauch K,Lindhout D,Koeleman BP

更新日期：2007-01-01 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：:Recently, testing for anticipation has received renewed interest. It is well known that standard statistical methods are inappropriate for this purpose due to problems of sampling bias. Few statistical tests have been proposed for comparing mean age of onset in affected parents with mean age of onset in affected child...

journal_title：Genetic epidemiology

authors： Tsai WY,Heiman GA,Hodge SE

更新日期：2005-04-01 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：: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：: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：: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：:Family-based designs enriched with affected subjects and disease associated variants can increase statistical power for identifying functional rare variants. However, few rare variant analysis approaches are available for time-to-event traits in family designs and none of them applicable to the X chromosome. We develo...

journal_title：Genetic epidemiology

authors： Chien LC,Bowden DW,Chiu YF

更新日期：2017-09-01 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：: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：: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：: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：: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：:Genetic Analysis Workshop 17 (GAW17) focused on the transition from genome-wide association study designs and methods to the study designs and statistical genetic methods that will be required for the analysis of next-generation sequence data including both common and rare sequence variants. In the 166 contributions t...

journal_title：Genetic epidemiology

authors： Wilson AF,Ziegler A

更新日期：2011-01-01 00:00:00

abstract：:To date, thousands of genetic variants to be associated with numerous human traits and diseases have been identified by genome-wide association studies (GWASs). The GWASs focus on testing the association between single trait and genetic variants. However, the analysis of multiple traits and single nucleotide polymorph...

journal_title：Genetic epidemiology

authors： Bu D,Yang Q,Meng Z,Zhang S,Li Q

更新日期：2020-10-01 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：: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：:Increased adiposity has repeatedly been identified as a major risk factor for a variety of chronic diseases. However, the question still remains whether the amount of adipose tissue itself is genetically mediated. To address this question, a segregation analysis, using maximum likelihood techniques as implemented in t...

journal_title：Genetic epidemiology

authors： Comuzzie AG,Blangero J,Mahaney MC,Mitchell BD,Hixson JE,Samollow PB,Stern MP,MacCluer JW

更新日期：1995-01-01 00:00:00

abstract：:This paper describes a general genetic model which encompasses both autosomal and X-linked inheritance as submodels. It allows one to test for X-linked inheritance of a trait by comparing the likelihood of X-linked inheritance to the likelihood of the general genetic model. The general model is formulated as two loci,...

journal_title：Genetic epidemiology

authors： Hasstedt SJ,Skolnick M

更新日期：1984-01-01 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：:We describe an extension to the TDT (transmission/disequilibrium test) which allows for more than two marker alleles and for covariates measured on the parent or offspring. We also describe a systematic genomic search where the mod score (maximized lod score) is computed for each marker under constraints on the popula...

journal_title：Genetic epidemiology

authors： Rice JP,Neuman RJ,Hoshaw SL,Daw EW,Gu C

更新日期：1995-01-01 00:00:00

abstract：:The large number of tests performed in analyzing data from genome-wide association studies has a large impact on the power of detecting risk variants, and analytic strategies specifying the optimal set of hypotheses to be tested are necessary. We propose a genome-wide strategy that is based on one degree of freedom te...

journal_title：Genetic epidemiology

authors： Nicolae DL

更新日期：2006-12-01 00:00:00

abstract：:Lander and Kruglyak [1995] gave guidelines for interpreting linkage results based on estimating how often a particular threshold for significance would be exceeded by chance in a single genome scan. What is unknown is how often two or more genome scans would exceed a particular threshold within the same region. We dev...

journal_title：Genetic epidemiology

authors： Badner JA,Goldin LR

更新日期：1999-01-01 00:00:00

abstract：:Genetic association studies of obstetric complications may genotype case and control mothers, or their respective newborns, or both case-control mothers and their children. The relatively high prevalence of many obstetric complications and the availability of both maternal and offspring's genotype data have provided m...

journal_title：Genetic epidemiology

authors： Chen J,Zheng H,Wilson ML,Kraft P

更新日期：2009-09-01 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：: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：:In diseases with a complex mode of inheritance, families with multiple affected individuals are difficult to ascertain. The haplotype sharing statistic (HSS) uses (hidden) co-ancestry between affected individuals from a founder population. These affected individuals will likely not only share the same mutation(s), but...

journal_title：Genetic epidemiology

authors： Van der Meulen MA,te Meerman GJ

更新日期：1997-01-01 00:00:00

abstract：:Genome-wide association (GWA) studies have proved extremely successful in identifying novel genetic loci contributing effects to complex human diseases. In doing so, they have highlighted the fact that many potential loci of modest effect remain undetected, partly due to the need for samples consisting of many thousan...

journal_title：Genetic epidemiology

authors： Zhuang JJ,Zondervan K,Nyberg F,Harbron C,Jawaid A,Cardon LR,Barratt BJ,Morris AP

更新日期：2010-05-01 00:00:00