Statistically efficient association analysis of quantitative traits with haplotypes and untyped SNPs in family studies.

Abstract:

BACKGROUND:Associations between haplotypes and quantitative traits provide valuable information about the genetic basis of complex human diseases. Haplotypes also provide an effective way to deal with untyped SNPs. Two major challenges arise in haplotype-based association analysis of family data. First, haplotypes may not be inferred with certainty from genotype data. Second, the trait values within a family tend to be correlated because of common genetic and environmental factors. RESULTS:To address these challenges, we present an efficient likelihood-based approach to analyzing associations of quantitative traits with haplotypes or untyped SNPs. This approach properly accounts for within-family trait correlations and can handle general pedigrees with arbitrary patterns of missing genotypes. We characterize the genetic effects on the quantitative trait by a linear regression model with random effects and develop efficient likelihood-based inference procedures. Extensive simulation studies are conducted to examine the performance of the proposed methods. An application to family data from the Childhood Asthma Management Program Ancillary Genetic Study is provided. A computer program is freely available. CONCLUSIONS:Results from extensive simulation studies show that the proposed methods for testing the haplotype effects on quantitative traits have correct type I error rates and are more powerful than some existing methods.

journal_name

BMC Genet

journal_title

BMC genetics

authors

Diao G,Lin DY

doi

10.1186/s12863-020-00902-x

subject

Has Abstract

pub_date

2020-09-07 00:00:00

pages

99

issue

1

issn

1471-2156

pii

10.1186/s12863-020-00902-x

journal_volume

21

pub_type

杂志文章
  • Effectiveness of 10 polymorphic microsatellite markers for parentage and pedigree analysis in plateau pika (Ochotona curzoniae).

    abstract:BACKGROUND:The plateau pika (Ochotona curzoniae) is an underground-dwelling mammal, native to the Tibetan plateau of China. A set of 10 polymorphic microsatellite loci has been developed earlier. Its reliability for parentage assignment has been tested in a plateau pika population. Two family groups with a known pedigr...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-11-101

    authors: Li K,Geng J,Qu J,Zhang Y,Hu S

    更新日期:2010-11-10 00:00:00

  • Meta-analysis of haplotype-association studies: comparison of methods and empirical evaluation of the literature.

    abstract:BACKGROUND:Meta-analysis is a popular methodology in several fields of medical research, including genetic association studies. However, the methods used for meta-analysis of association studies that report haplotypes have not been studied in detail. In this work, methods for performing meta-analysis of haplotype assoc...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-12-8

    authors: Bagos PG

    更新日期:2011-01-19 00:00:00

  • Genome-wide linkage scan for genes affecting longitudinal trends in systolic blood pressure.

    abstract::Only one genome scan to date has attempted to make use of the longitudinal data available in the Framingham Heart Study, and this attempt yielded evidence of linkage to a gene for mean systolic blood pressure. We show how the additional information available in these longitudinal data can be utilized to examine linkag...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-4-S1-S82

    authors: Jacobs KB,Gray-McGuire C,Cartier KC,Elston RC

    更新日期:2003-12-31 00:00:00

  • Molecular and cytological analysis of widely-used Gal4 driver lines for Drosophila neurobiology.

    abstract:BACKGROUND:The Drosophila central nervous system (CNS) is a convenient model system for the study of the molecular mechanisms of conserved neurobiological processes. The manipulation of gene activity in specific cell types and subtypes of the Drosophila CNS is frequently achieved by employing the binary Gal4/UAS system...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-020-00895-7

    authors: Ogienko AA,Andreyeva EN,Omelina ES,Oshchepkova AL,Pindyurin AV

    更新日期:2020-10-22 00:00:00

  • Whole genome population genetics analysis of Sudanese goats identifies regions harboring genes associated with major traits.

    abstract:BACKGROUND:Sudan is endowed with a variety of indigenous goat breeds which are used for meat and milk production and which are well adapted to the local environment. The aim of the present study was to determine the genetic diversity and relationship within and between the four main Sudanese breeds of Nubian, Desert, T...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-017-0553-z

    authors: Rahmatalla SA,Arends D,Reissmann M,Said Ahmed A,Wimmers K,Reyer H,Brockmann GA

    更新日期:2017-10-23 00:00:00

  • Family-based approaches: design, imputation, analysis, and beyond.

    abstract::Participants in the family-based analysis group at Genetic Analysis Workshop 19 addressed diverse topics, all of which used the family data. Topics addressed included questions of study design and data quality control (QC), genotype imputation to augment available sequence data, and linkage and/or association analyses...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-015-0318-5

    authors: Wijsman EM

    更新日期:2016-02-03 00:00:00

  • Interval estimation of disease loci: development and applications of new linkage methods.

    abstract::Three variants of the confidence set inference (CSI) procedure were proposed and applied to both the simulated and the Collaborative Study on the Genetics of Alcoholism (COGA) data. For each of the two applications, we first performed a preliminary genome scan study based on the microsatellite markers using the GENEHU...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-6-S1-S21

    authors: Papachristou C,Lin S

    更新日期:2005-12-30 00:00:00

  • AB-QTL analysis reveals new alleles associated to proline accumulation and leaf wilting under drought stress conditions in barley (Hordeum vulgare L.).

    abstract:BACKGROUND:Land plants have evolved several measures to maintain their life against abiotic stresses. The accumulation of proline is the most generalized response of plants under drought, heat or salt stress conditions. It is known as an osmoprotectant which also acts as an instant source of energy during drought recov...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-13-61

    authors: Sayed MA,Schumann H,Pillen K,Naz AA,Léon J

    更新日期:2012-07-20 00:00:00

  • Polymorphism analysis of six selenoprotein genes: support for a selective sweep at the glutathione peroxidase 1 locus (3p21) in Asian populations.

    abstract:BACKGROUND:There are at least 25 human selenoproteins, each characterized by the incorporation of selenium into the primary sequence as the amino acid selenocysteine. Since many selenoproteins have antioxidant properties, it is plausible that inter-individual differences in selenoprotein expression or activity could in...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-7-56

    authors: Foster CB,Aswath K,Chanock SJ,McKay HF,Peters U

    更新日期:2006-12-11 00:00:00

  • Genetic affinities between the Yami tribe people of Orchid Island and the Philippine Islanders of the Batanes archipelago.

    abstract:BACKGROUND:Yami and Ivatan islanders are Austronesian speakers from Orchid Island and the Batanes archipelago that are located between Taiwan and the Philippines. The paternal genealogies of the Yami tribe from 1962 monograph of Wei and Liu were compared with our dataset of non-recombining Y (NRY) chromosomes from the ...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-12-21

    authors: Loo JH,Trejaut JA,Yen JC,Chen ZS,Lee CL,Lin M

    更新日期:2011-01-31 00:00:00

  • Model-specific tests on variance heterogeneity for detection of potentially interacting genetic loci.

    abstract:BACKGROUND:Trait variances among genotype groups at a locus are expected to differ in the presence of an interaction between this locus and another locus or environment. A simple maximum test on variance heterogeneity can thus be used to identify potentially interacting single nucleotide polymorphisms (SNPs). RESULTS:...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-13-59

    authors: Hothorn LA,Libiger O,Gerhard D

    更新日期:2012-07-18 00:00:00

  • Evaluation of linkage disequilibrium and its effect on non-parametric multipoint linkage analysis using two high density single-nucleotide polymorphism mapping panels.

    abstract::Genotype data from the Illumina Linkage III SNP panel (n = 4,720 SNPs) and the Affymetrix 10 k mapping array (n = 11,120 SNPs) were used to test the effects of linkage disequilibrium (LD) between SNPs in a linkage analysis in the Collaborative Study on the Genetics of Alcoholism pedigree collection (143 pedigrees; 1,6...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-6-S1-S85

    authors: Murray SS

    更新日期:2005-12-30 00:00:00

  • Genome scan linkage analysis comparing microsatellites and single-nucleotide polymorphisms markers for two measures of alcoholism in chromosomes 1, 4, and 7.

    abstract:BACKGROUND:We analyzed 143 pedigrees (364 nuclear families) in the Collaborative Study on the Genetics of Alcoholism (COGA) data provided to the participants in the Genetic Analysis Workshop 14 (GAW14) with the goal of comparing results obtained from genome linkage analysis using microsatellite and with results obtaine...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-6-S1-S4

    authors: Chen G,Adeyemo A,Zhou J,Yuan A,Chen Y,Rotimi C

    更新日期:2005-12-30 00:00:00

  • A nonsense mutation in the tyrosinase gene causes albinism in water buffalo.

    abstract:BACKGROUND:Oculocutaneous albinism (OCA) is an autosomal recessive hereditary pigmentation disorder affecting humans and several other animal species. Oculocutaneous albinism was studied in a herd of Murrah buffalo to determine the clinical presentation and genetic basis of albinism in this species. RESULTS:Clinical e...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-13-62

    authors: Damé MC,Xavier GM,Oliveira-Filho JP,Borges AS,Oliveira HN,Riet-Correa F,Schild AL

    更新日期:2012-07-20 00:00:00

  • Mutational and clinical analysis of the ENG gene in patients with pulmonary arterial hypertension.

    abstract:BACKGROUND:Pulmonary arterial hypertension (PAH) is a rare vascular disorder characterized by a capillary wedge pressure ≤ 15 mmHg and a mean pulmonary arterial pressure ≥ 25 mmHg at rest. PAH can be idiopathic, heritable or associated with other conditions. The aim of this study was to analyze the Endoglin (ENG) gene ...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-016-0384-3

    authors: Pousada G,Baloira A,Fontán D,Núñez M,Valverde D

    更新日期:2016-06-04 00:00:00

  • Nucleotide variability and linkage disequilibrium patterns in the porcine MUC4 gene.

    abstract:BACKGROUND:MUC4 is a type of membrane anchored glycoprotein and serves as the major constituent of mucus that covers epithelial surfaces of many tissues such as trachea, colon and cervix. MUC4 plays important roles in the lubrication and protection of the surface epithelium, cell proliferation and differentiation, immu...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-13-57

    authors: Yang M,Yang B,Yan X,Ouyang J,Zeng W,Ai H,Ren J,Huang L

    更新日期:2012-07-13 00:00:00

  • GM and KM immunoglobulin allotypes in the Galician population: new insights into the peopling of the Iberian Peninsula.

    abstract:BACKGROUND:The current genetic structure of Iberian populations has presumably been affected by the complex orography of its territory, the different people and civilizations that settled there, its ancient and complex history, the diverse and persistent sociocultural patterns in its different regions, and also by the ...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-8-37

    authors: Calderón R,Lodeiro R,Varela TA,Fariña J,Ambrosio B,Guitard E,González-Martín A,Dugoujon JM

    更新日期:2007-06-27 00:00:00

  • Molecular cytogenetics of valuable Arctic and sub-Arctic pasture grass species from the Aveneae/Poeae tribe complex (Poaceae).

    abstract:BACKGROUND:Grasslands in the Arctic tundra undergo irreversible degradation due to climatic changes and also over-exploitation and depletion of scarce resources. Comprehensive investigations of cytogenomic structures of valuable Arctic and sub-Arctic grassland species is essential for clarifying their genetic peculiari...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-019-0792-2

    authors: Amosova AV,Zoshchuk SA,Rodionov AV,Ghukasyan L,Samatadze TE,Punina EO,Loskutov IG,Yurkevich OY,Muravenko OV

    更新日期:2019-12-04 00:00:00

  • Enhancing the usability and performance of structured association mapping algorithms using automation, parallelization, and visualization in the GenAMap software system.

    abstract:BACKGROUND:Structured association mapping is proving to be a powerful strategy to find genetic polymorphisms associated with disease. However, these algorithms are often distributed as command line implementations that require expertise and effort to customize and put into practice. Because of the difficulty required t...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-13-24

    authors: Curtis RE,Goyal A,Xing EP

    更新日期:2012-04-03 00:00:00

  • Longitudinal variance-components analysis of the Framingham Heart Study data.

    abstract::The Framingham Heart Study offspring cohort, a complex data set with irregularly spaced longitudinal phenotype data, was made available as part of Genetic Analysis Workshop 13. To allow an analysis of all of the data simultaneously, a mixed-model- based random-regression (RR) approach was used. The RR accounted for th...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-4-S1-S22

    authors: Macgregor S,Knott SA,White I,Visscher PM,Framingham Heart Study.

    更新日期:2003-12-31 00:00:00

  • Recombination of the porcine X chromosome: a high density linkage map.

    abstract:BACKGROUND:Linkage maps are essential tools for the study of several topics in genome biology. High density linkage maps for the porcine autosomes have been constructed exploiting the high density data provided by the PorcineSNP60 BeadChip. However, a high density SSCX linkage map has not been reported up to date. The ...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-014-0148-x

    authors: Fernández AI,Muñoz M,Alves E,Folch JM,Noguera JL,Enciso MP,Rodríguez Mdel C,Silió L

    更新日期:2014-12-20 00:00:00

  • Genomic and expression analysis of multiple Sry loci from a single Rattus norvegicus Y chromosome.

    abstract:BACKGROUND:Sry is a gene known to be essential for testis determination but is also transcribed in adult male tissues. The laboratory rat, Rattus norvegicus, has multiple Y chromosome copies of Sry while most mammals have only a single copy. DNA sequence comparisons with other rodents with multiple Sry copies are incon...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-8-11

    authors: Turner ME,Martin C,Martins AS,Dunmire J,Farkas J,Ely DL,Milsted A

    更新日期:2007-04-04 00:00:00

  • Tissue expression profiles unveil the gene interaction of hepatopancreas, eyestalk, and ovary in the precocious female Chinese mitten crab, Eriocheir sinensis.

    abstract:BACKGROUND:Sexual precocity is a common biological phenomenon in animal species. A large number of precocity individuals were identified in Chinese mitten crab Eriocheir sinensis, which caused huge economic loss annually. However, the underlying genetic basis of precocity in E. sinensis remains unclear to date. RESULT...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-019-0716-1

    authors: Chen X,Wang J,Hou X,Yue W,Huang S,Wang C

    更新日期:2019-01-25 00:00:00

  • Focal exposure of limited lung volumes to high-dose irradiation down-regulated organ development-related functions and up-regulated the immune response in mouse pulmonary tissues.

    abstract:BACKGROUND:Despite the emergence of stereotactic body radiotherapy (SBRT) for treatment of medically inoperable early-stage non-small-cell lung cancer patients, the molecular effects of focal exposure of limited lung volumes to high-dose radiation have not been fully characterized. This study was designed to identify m...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-016-0338-9

    authors: Kim BY,Jin H,Lee YJ,Kang GY,Cho J,Lee YS

    更新日期:2016-01-27 00:00:00

  • Comparisons of methods for linkage analysis and haplotype reconstruction using extended pedigree data.

    abstract::We compare and contrast the performance of SIMPLE, a Monte Carlo based software, with that of several other methods for linkage and haplotype analyses, focusing on the simulated data from the New York City population. First, a whole-genome scan study based on the microsatellite markers was performed using GENEHUNTER. ...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-6-S1-S76

    authors: Lin S,Ding J,Dong C,Liu Z,Ma ZJ,Wan S,Xu Y

    更新日期:2005-12-30 00:00:00

  • Reassessment of the function of somatolactin alpha in lipid metabolism using medaka mutant and transgenic strains.

    abstract:BACKGROUND:Somatolactin alpha (SLa) is a fish-specific peptide hormone secreted from the pituitary. In medaka, SLa functions to darken the skin color and lack of SLa makes it pale. Transcription of SLa is enhanced or suppressed when fish are kept in dark or bright conditions, respectively, indicating SLa's important ro...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-13-64

    authors: Sasano Y,Yoshimura A,Fukamachi S

    更新日期:2012-07-24 00:00:00

  • qDTY₁.₁, a major QTL for rice grain yield under reproductive-stage drought stress with a consistent effect in multiple elite genetic backgrounds.

    abstract:BACKGROUND:Drought is one of the most important abiotic stresses causing drastic reductions in yield in rainfed rice environments. The suitability of grain yield (GY) under drought as a selection criterion has been reported in the past few years. Most of the quantitative trait loci (QTLs) for GY under drought in rice r...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-12-89

    authors: Vikram P,Swamy BP,Dixit S,Ahmed HU,Teresa Sta Cruz M,Singh AK,Kumar A

    更新日期:2011-10-18 00:00:00

  • Hierarchical modeling in association studies of multiple phenotypes.

    abstract::The genetic study of disease-associated phenotypes has become common because such phenotypes are often easier to measure and in many cases are under greater genetic control than the complex disease itself. Some disease-associated phenotypes are rare, however, making it difficult to evaluate their effects due to small ...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-6-S1-S104

    authors: Liu X,Jorgenson E,Witte JS

    更新日期:2005-12-30 00:00:00

  • The chromosomal constitution of fish hybrid lineage revealed by 5S rDNA FISH.

    abstract:BACKGROUND:The establishment of the bisexual fertile fish hybrid lineage including the allodiploid and allotetraploid hybrids, from interspecific hybridization of red crucian carp (Carassius auratus red var. 2n = 100, 2n = AA) (♀) × common carp (Cyprinus carpio L. 2n = 100, 2n = BB) (♂), provided a good platform to inv...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/s12863-015-0295-8

    authors: Zhang C,Ye L,Chen Y,Xiao J,Wu Y,Tao M,Xiao Y,Liu S

    更新日期:2015-12-03 00:00:00

  • Quantitative trait loci for variation in immune response to a Foot-and-Mouth Disease virus peptide.

    abstract:BACKGROUND:Infectious disease of livestock continues to be a cause of substantial economic loss and has adverse welfare consequences in both the developing and developed world. New solutions to control disease are needed and research focused on the genetic loci determining variation in immune-related traits has the pot...

    journal_title:BMC genetics

    pub_type: 杂志文章

    doi:10.1186/1471-2156-11-107

    authors: Leach RJ,Craigmile SC,Knott SA,Williams JL,Glass EJ

    更新日期:2010-12-07 00:00:00