Abstract:
:Multivariate linkage analysis has been suggested for the analysis of correlated traits, such as blood pressure (BP) and body mass index (BMI), because it may offer greater power and provide clearer results than univariate analyses. Currently, the most commonly used multivariate linkage methods are extensions of the univariate variance component model. One concern about those methods is their inherent sensitivity to the assumption of multivariate normality which cannot be easily guaranteed in practice. Another problem possibly related to all multivariate linkage analysis methods is the difficulty in interpreting nominal p-values, because the asymptotic distribution of the test statistic has not been well characterized. Here we propose a regression-based multivariate linkage method in which a robust score statistic is used to detect linkage. The p-value of the statistic is evaluated by a simple and rapid simulation procedure. Theoretically, this method can be used for any number and type of traits and for general pedigree data. We apply this approach to a genome linkage analysis of blood pressure and body mass index data from the Beaver Dam Eye Study.
journal_name
Ann Hum Genetjournal_title
Annals of human geneticsauthors
Wang T,Elston RCdoi
10.1111/j.1469-1809.2006.00303.xsubject
Has Abstractpub_date
2007-01-01 00:00:00pages
96-106issue
Pt 1eissn
0003-4800issn
1469-1809pii
AHG303journal_volume
71pub_type
杂志文章abstract::Case-control studies are a powerful strategy to identify candidate genes in complex diseases. In admixed populations, association studies can be affected by population stratification, leading to spurious genetic associations. Ancestry informative markers (AIMs) can be used to minimise this effect. The aim of this work...
journal_title:Annals of human genetics
pub_type: 杂志文章
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更新日期:2017-11-01 00:00:00
abstract::Research suggests pulse pressure (PP) is a predictor of cardiovascular disease, and genes likely influence PP levels. Additionally, gender may be an effect modifier between PP and cardiovascular disease. This study addresses whether two renin-angiotensin-aldosterone system (RAAS) variants are associated with PP in a s...
journal_title:Annals of human genetics
pub_type: 杂志文章,多中心研究,随机对照试验
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更新日期:2007-11-01 00:00:00
abstract::In a Muslim Arab village, relatively isolated because of the preference of consanguineous marriages, we studied the fate of 12 mutations in 5 different genes. The study was based on carriers detected among relatives of affected patients and of carriers discovered in a random sample of 424 adults. Most of the mutations...
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1979.tb02000.x
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abstract::In the process of genetically mapping a complex disease, the question may arise whether a certain polymorphism is the only causal variant in a region. A number of methods can answer this question, but unfortunately these methods are optimal for bi-allelic loci only. We wanted to develop a method that is more suited fo...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1046/j.1529-8817.2004.00129.x
更新日期:2005-01-01 00:00:00
abstract::The proportion of hex S to hex C in normal and Sandhoff's fibroblasts was determined to be between 1:1 and 1:2 by differential staining of hex S at pH 4.4 with 4-methylumbelliferyl-beta-N-acetylgalactosaminide and of hex C at pH 7.0 with 4-methylumbelliferyl-beta-N-acetylglucosaminide. Hex S and hex C were also semi-q...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1977.tb01911.x
更新日期:1977-10-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1988.tb01097.x
更新日期:1988-07-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1017/S0003480002001306
更新日期:2002-11-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2006.00271.x
更新日期:2006-11-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1978.tb01899.x
更新日期:1978-01-01 00:00:00
abstract::Secondary alterations in splicing have been reported to produce semi-functional mRNA from several nonsense mutations in the dystrophin gene. Disruptions of exonic splicing enhancers by single nucleotide changes are thought to underlie such alterations. The precise frequencies of such nonsense mutation-dependent splici...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2008.00468.x
更新日期:2008-11-01 00:00:00
abstract::The joint analysis of multiple traits has recently become popular since it can increase statistical power to detect genetic variants and there is increasing evidence showing that pleiotropy is a widespread phenomenon in complex diseases. Currently, the majority of existing methods for the joint analysis of multiple tr...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12149
更新日期:2016-05-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1986.tb01756.x
更新日期:1986-10-01 00:00:00
abstract::Using genetic data from an obesity candidate gene study of self-reported African Americans and European Americans, we investigated the number of Ancestry Informative Markers (AIMs) and candidate gene SNPs necessary to infer continental ancestry. Proportions of African and European ancestry were assessed with STRUCTURE...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2012.00738.x
更新日期:2013-01-01 00:00:00
abstract::It is shown that in the equilibrium position with respect to the assortative mating process given by Fisher's (1918) model, the population is in linkage disequilibrium, contrary to a result given by Vetta (1975). ...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1978.tb00937.x
更新日期:1978-07-01 00:00:00
abstract::Cystic fibrosis is a common autosomal recessive disorder that primarily affects the epithelial cells in the intestine, respiratory system, pancreas, gall bladder and sweat glands. Over one thousand mutations have currently been identified in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene that are ...
journal_title:Annals of human genetics
pub_type: 杂志文章,评审
doi:10.1046/j.1469-1809.2003.00028.x
更新日期:2003-09-01 00:00:00
abstract::The expected power of genome-wide linkage disequilibrium (LD) testing for a low-frequency disease variant was examined using a simple genetic model in which the degree of LD between the disease variant and the adjacent single nucleotide polymorphism (SNP) marker decreases in proportion to the number of generations sin...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1017/S0003480002001197
更新日期:2002-07-01 00:00:00
abstract::Gene-gene interaction plays an important role in association studies for complex diseases. There have been different approaches to incorporating gene-gene interactions in candidate gene or genome-wide association studies, especially for those genes with no marginal effects but with interaction effects. However, there ...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2008.00480.x
更新日期:2009-01-01 00:00:00
abstract::The segregation of human cytosolic alanine aminotransferase (AAT1) and the individual human chromosomes has been studied in 27 secondary and tertiary rat hepatoma-human (liver) fibroblast hybrids. The staining solution used to visualize AAT activity on starch gels was specific for AAT since it was visualized only when...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1982.tb00703.x
更新日期:1982-05-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1979.tb02004.x
更新日期:1979-10-01 00:00:00
abstract::The robust sib-pair method introduced by Haseman & Elston (1972) is one of the most widely circulated allele-sharing methods for linkage analysis. The procedure evaluates linkage by significance testing of a regression coefficient and, hence, a standard t-test has traditionally been applied despite known violations of...
journal_title:Annals of human genetics
pub_type: 杂志文章
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1976.tb00134.x
更新日期:1976-01-01 00:00:00
abstract::Stress is a significant risk factor in the development of drug addictions and in addiction relapse susceptibility. This hypothesis-driven study was designed to determine if specific SNPs in genes related to stress response are associated with heroin and/or cocaine addiction in African Americans. The analysis included ...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12064
更新日期:2014-07-01 00:00:00
abstract::A founder haplotype on chromosome 2p for autosomal dominant Parkinson's disease (PD) has been postulated for two families of Northern European descent, and a new mutation in the alpha-synuclein gene (Ala30Pro) has been found in a German PD family. We evaluated 85 German PD patients and 85 ethnically matched controls f...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1046/j.1469-1809.1999.6340285.x
更新日期:1999-07-01 00:00:00
abstract::The goal of the present study was to investigate inter-individual and age-dependent variation of global DNA methylation in human tissues. In this work, we examined 5-methyldeoxycytidine ((met)C) content by HPLC in human peripheral blood leukocytes obtained from 76 healthy individuals of ages varying from 4 to 94 years...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1046/j.1529-8817.2004.00081.x
更新日期:2004-05-01 00:00:00
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journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1017/S0003480002001070
更新日期:2002-03-01 00:00:00
abstract::MUC1 is a highly polymorphic mucin type glycoprotein expressed on the surface of many epithelia, including gastric mucosa, and is present in several body fluids and mucous secretions. A genetic polymorphism due to variation in length of a 60 bp tandemly repeated sequence domain constitutes more than half of the coding...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1046/j.1469-1809.1999.6330187.x
更新日期:1999-05-01 00:00:00
abstract::A substantial proportion of patients with pulmonary arterial hypertension (PAH) have mutations in the Bone Morphogenetic Protein Receptor type-2 (BMPR2) gene. PAH due to BMPR2 mutations is inherited as an autosomal dominant trait with several unique features, including a wide variety of mutations, reduced penetrance, ...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12096
更新日期:2015-03-01 00:00:00
abstract::In order to describe the isonymic structure of Paraguay, the distribution of 4,843,868 surnames of 2,882,163 persons was studied in the 18 departments and 237 districts of the nation. The correlations between isonymic and geographic distances for departments were r = 0.713 ± 0.052 for Euclidean distance, 0.597 ± 0.074...
journal_title:Annals of human genetics
pub_type: 杂志文章
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更新日期:2011-11-01 00:00:00
abstract::This paper reconsiders the relevant contribution of Sasieni in the validity of allele-based tests in case-control genetic association studies. In particular, the author clearly demonstrates that the classical chi-square test applied to allelic contingency tables is biased when the combined case-control population is n...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2008.00438.x
更新日期:2008-05-01 00:00:00