当前位置： SCI文献检索 > HUMAN GENETICS期刊下所有文献 > Ascertainment adjustment in genetic studies of ordinal traits.

Ascertainment adjustment in genetic studies of ordinal traits.

Abstract：

:Most genetic studies recruit high risk families and the discoveries are based on non-random selected groups. We must consider the consequences of this ascertainment process in order to apply the results of genetic research to the general population. In previous reports, we developed a latent variable model to assess the familial aggregation and inheritability of ordinal-scaled diseases, and found a major gene component of alcoholism after applying the model to the data from the Yale family study of comorbidity of alcoholism and anxiety (YFSCAA). In this report, we examine the ascertainment effects on parameter estimates and correct potential bias in the latent variable model. The simulation studies for various ascertainment schemes suggest that our ascertainment adjustment is necessary and effective. We also find that the estimated effects are relatively unbiased for the particular ascertainment scheme used in the YFSCAA, which assures the validity of our earlier conclusion.

journal_name

Hum Genet

journal_title

Human genetics

authors

Feng R,Zhang H

doi

10.1007/s00439-006-0147-8

keywords:

subject

Has Abstract

pub_date

2006-05-01 00:00:00

pages

429-35

issue

4

eissn

0340-6717

issn

1432-1203

journal_volume

119

pub_type

杂志文章

相关文献

HUMAN GENETICS文献大全
  • Support for random alignment of mitotic chromatids in associating nucleolus organizers.

    abstract：:Peripheral blood cultures of five healthy chromosomally normal adults were used to study the lateral orientation of mitotic chromatids in satellite associations. Chromosomes were prepared after bromodeoxyuridine substitution for two S phases and the fluorescence-plus-Giemsa (FPG) technique. Conventionally stained prep...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00291326

    authors： Woodruff KM,Martin-DeLeon PA

    更新日期：1982-01-01 00:00:00

  • Exploiting the proteome to improve the genome-wide genetic analysis of epistasis in common human diseases.

    abstract：:One of the central goals of human genetics is the identification of loci with alleles or genotypes that confer increased susceptibility. The availability of dense maps of single-nucleotide polymorphisms (SNPs) along with high-throughput genotyping technologies has set the stage for routine genome-wide association stud...

    journal_title：Human genetics

    pub_type： 杂志文章,评审

    doi：10.1007/s00439-008-0522-8

    authors： Pattin KA,Moore JH

    更新日期：2008-08-01 00:00:00

  • Novel polymorphisms and haplotypes in the human coagulation factor XIII A-subunit gene.

    abstract：:Novel polymorphic sites within the coding region of the human coagulation factor XIII A-subunit (F13A) gene and their haplotypic combinations with the other polymorphic sites thus far reported are presented. Polymorphic bands were detected in exons 2, 5, 8, 12 and 14 by using single strand conformational polymorphism ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390050227

    authors： Suzuki K,Henke J,Iwata M,Henke L,Tsuji H,Fukunaga T,Ishimoto G,Szekelyi M,Ito S

    更新日期：1996-10-01 00:00:00

  • Genetic and epigenetic Muller's ratchet as a mechanism of frailty and morbidity during aging: a demographic genetic model.

    abstract：:Mutation accumulation has been proposed as a cause of senescence. During this process, age-related genetic and epigenetic mutations steadily accumulate. Cascading deleterious effects of mutations might initiate a steady "accumulation of deficits" in cells, despite the existence of repair mechanisms, leading to cellula...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-019-02067-9

    authors： Innan H,Veitia R,Govindaraju DR

    更新日期：2020-03-01 00:00:00

  • A red cell pyruvate kinase mutant with normal L-type PK in the liver.

    abstract：:The erythrocytic and liver pyruvate kinases (PK) from a patient with congenital nonspherocytic hemolytic anemia have been studied. In red blood cells, the residual activity, 28% of the normal control, presented normal kinetic properties, instability to heat and urea, and slow electrophoretic mobility. The L-type PK fr...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00296454

    authors： Etiemble J,Picat C,Boivin P

    更新日期：1982-01-01 00:00:00

  • Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis.

    abstract：:Disorders of the anterior segment of the eye encompass a variety of clinical presentations including aniridia, Axenfeld and Rieger anomalies, primary congenital glaucoma, Peters anomaly, as well as syndromal associations. These conditions have a significant impact on vision due to disruption of the visual axis, and al...

    journal_title：Human genetics

    pub_type： 杂志文章,评审

    doi：10.1007/s00439-018-1935-7

    authors： Ma AS,Grigg JR,Jamieson RV

    更新日期：2019-09-01 00:00:00

  • The genes for the human VPS10 domain-containing receptors are large and contain many small exons.

    abstract：:The two human proteins with a VPS10 domain, SorLA and sortilin, both bind neuropeptides. Searching for other VPS10-domain proteins in the database revealed three new putative human neuropeptide receptors. The new receptors were designated SorCS1, SorCS2 and SorCS3, due to their identical domain composition, which, exc...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390100504

    authors： Hampe W,Rezgaoui M,Hermans-Borgmeyer I,Schaller HC

    更新日期：2001-06-01 00:00:00

  • Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A --> G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gne.

    abstract：:A girl, who died at 14 years of age from a rapidly progressive mitochondrial myopathy, was found to be heteroplasmic for a mutation in the mitochondrial tRNALeu(UUR) gene at position 3251. A large proportion of muscle fibres contained accumulations of abnormal mitochondria but no cytochrome c oxidase deficient fibres ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF02185750

    authors： Houshmand M,Larsson NG,Oldfors A,Tulinius M,Holme E

    更新日期：1996-03-01 00:00:00

  • Prenatal diagnosis of genodermatoses by ultrastructural diagnostic markers in extra-embryonic tissues: defective hemidesmosomes in amnion epithelium of fetuses affected with epidermolysis bullosa Herlitz type (an alternative prenatal diagnosis in certain

    abstract：:We report the first use of amnion epithelium for prenatal diagnosis. Prenatal diagnosis of recessive epidermolysis bullosa atrophicans generalisata gravis Herlitz type can at present be achieved with safety by detailed ultrastructural analysis of fetal skin. Because of the close developmental origin of amnion and skin...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00206763

    authors： Hausser I,Anton-Lamprecht I

    更新日期：1990-08-01 00:00:00

  • Fine-mapping the genetic basis of CRP regulation in African Americans: a Bayesian approach.

    abstract：:Basal levels of C-reactive protein (CRP) have been associated with disease, particularly future cardiovascular events. Twin studies estimate 50% CRP heritability, so the identification of genetic variants influencing CRP expression is important. Existing studies in populations of European ancestry have identified nume...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-008-0517-5

    authors： Rhodes B,Morris DL,Subrahmanyan L,Aubin C,de Leon CF,Kelly JF,Evans DA,Whittaker JC,Oksenberg JR,De Jager PL,Vyse TJ

    更新日期：2008-07-01 00:00:00

  • Two novel frameshift mutations in the low density lipoprotein receptor gene generated by endogenous sequence-directed mechanisms.

    abstract：:DNA samples from 60 unrelated Belgian hypercholesterolemic patients were subjected to heteroduplex analysis of exon 4 of the low density lipoprotein receptor (LDLR) gene. Aberrant mobility bands were detected in 2 patients and the underlying mutations were characterized by DNA sequence analysis. Both mutations, a 19-b...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00191796

    authors： Peeters AV,Van Gaal LF,Theart L,Langenhoven E,Kotze MJ

    更新日期：1995-10-01 00:00:00

  • Low incidence of deletion of the esterase D locus in retinoblastoma patients.

    abstract：:Esterase D was quantitatively measured in the red blood cells from three patients from three separate kindreds who had abnormalities of chromosome 13. The esterase D activity was proportional to the number of copies of the q14 region of chromosome 13 present. These findings confirm published data localizing the estera...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00327114

    authors： Dryja TP,Bruns GA,Gallie B,Petersen R,Green W,Rapaport JM,Albert DM,Gerald PS

    更新日期：1983-01-01 00:00:00

  • A girl with the Prader-Willi syndrome and Robertsonian translocation 45,XX,t(14;15)(p11;q11) which was present in three normal family members.

    abstract：:A 21-year-old girl with classical Prader-Willi Syndrome was found to have a 14;15 Robertsonian translocation--45,XX,t(14;15)(p11;q11). This type of Robertsonian translocation was not found in any patient from 8 surveys covering 6144 patients with mental retardation. Chromosome 15 has been involved in translocations in...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00291777

    authors： Smith A,Noel M

    更新日期：1980-01-01 00:00:00

  • Amplified product length polymorphism (APLP): a novel strategy for genotyping the ABO blood group.

    abstract：:We present a simple rapid reproducible polymerase chain reaction based technique, termed amplified product length polymorphism (APLP), as a new strategy for primer design for ABO genotyping. The method involves the use of primers differing in length and permits the identification of the major ABO genotypes (A1, A2, B,...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390050306

    authors： Watanabe G,Umetsu K,Yuasa I,Suzuki T

    更新日期：1997-01-01 00:00:00

  • TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.

    abstract：:Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a myocardial disease characterized by fibro-fatty replacement of right ventricular free wall myocardium and life-threatening ventricular arrhythmias. A missense mutation, c.1073C>T (p.S358L) in the transmembrane protein 43 (TMEM43) gene, has been genetically id...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-013-1323-2

    authors： Baskin B,Skinner JR,Sanatani S,Terespolsky D,Krahn AD,Ray PN,Scherer SW,Hamilton RM

    更新日期：2013-11-01 00:00:00

  • Admixture-matched case-control study: a practical approach for genetic association studies in admixed populations.

    abstract：:Case-control genetic association studies in admixed populations are known to be susceptible to genetic confounding due to population stratification. The transmission/disequilibrium test (TDT) approach can avoid this problem. However, the TDT is expensive and impractical for late-onset diseases. Case-control study desi...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-005-0080-2

    authors： Tsai HJ,Kho JY,Shaikh N,Choudhry S,Naqvi M,Navarro D,Matallana H,Castro R,Lilly CM,Watson HG,Meade K,Lenoir M,Thyne S,Ziv E,Burchard EG

    更新日期：2006-01-01 00:00:00

  • Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.

    abstract：:Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents during the first year of life. The main features of the disease are normochromic and macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. The patients also present with growth retarda...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-013-1326-z

    authors： Landowski M,O'Donohue MF,Buros C,Ghazvinian R,Montel-Lehry N,Vlachos A,Sieff CA,Newburger PE,Niewiadomska E,Matysiak M,Glader B,Atsidaftos E,Lipton JM,Beggs AH,Gleizes PE,Gazda HT

    更新日期：2013-11-01 00:00:00

  • Refinement of the genetic cause of ATR-16.

    abstract：:Alpha thalassemia retardation associated with chromosome16 (ATR-16 syndrome) is defined as a contiguous gene syndrome resulting from haploinsufficiency of the alpha-globin gene cluster and genes involved in mental retardation (MR). To date, only few cases have been described which result from pure monosomy for a delet...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-007-0399-y

    authors： Harteveld CL,Kriek M,Bijlsma EK,Erjavec Z,Balak D,Phylipsen M,Voskamp A,di Capua E,White SJ,Giordano PC

    更新日期：2007-11-01 00:00:00

  • Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence.

    abstract：:Peer behaviour plays an important role in the development of social adjustment, though little is known about its genetic architecture. We conducted a twin study combined with a genome-wide complex trait analysis (GCTA) and a genome-wide screen to characterise genetic influences on problematic peer behaviour during chi...

    journal_title：Human genetics

    pub_type： 临床试验,杂志文章,多中心研究

    doi：10.1007/s00439-014-1514-5

    authors： St Pourcain B,Haworth CM,Davis OS,Wang K,Timpson NJ,Evans DM,Kemp JP,Ronald A,Price T,Meaburn E,Ring SM,Golding J,Hakonarson H,Plomin R,Davey Smith G

    更新日期：2015-06-01 00:00:00

  • The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGK.

    abstract：:A linkage analysis has been performed in a large Dutch kindred with progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) using a panel of X-chromosomal RFLPs. Tight linkage (zmax = 3.07 at 0 = theta = 0.00) was demonstrated with the locus for phosphoglycerate kinase (PGK), which is located...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00273647

    authors： Brunner HG,van Bennekom A,Lambermon EM,Oei TL,Cremers WR,Wieringa B,Ropers HH

    更新日期：1988-12-01 00:00:00

  • Mutation detection in FGFR2 craniosynostosis syndromes.

    abstract：:Five autosomal dominant craniosynostosis syndromes (Apert, Crouzon, Pfeiffer, Jackson-Weiss and Crouzon syndrome with acanthosis nigricans) result from mutations in FGFR genes. Fourteen unrelated patients with FGFR2-related craniosynostosis syndromes were screened for mutations in exons IIIa and IIIc of FGFR2. Eight o...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390050348

    authors： Hollway GE,Suthers GK,Haan EA,Thompson E,David DJ,Gecz J,Mulley JC

    更新日期：1997-02-01 00:00:00

  • Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.

    abstract：:Mutations in the GJB2 gene have been identified in many patients with childhood deafness, 35delG being the most common mutation in Caucasoid populations. We have analyzed a total of 576 families/unrelated patients with recessive or sporadic deafness from Italy and Spain, 193 of them being referred as autosomal recessi...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390051007

    authors： Rabionet R,Zelante L,López-Bigas N,D'Agruma L,Melchionda S,Restagno G,Arbonés ML,Gasparini P,Estivill X

    更新日期：2000-01-01 00:00:00

  • Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

    abstract：:Coffin-Siris syndrome (CSS) and Nicolaides-Baraitser syndrome (NCBRS) are rare intellectual disability/congenital malformation syndromes that represent distinct entities but show considerable clinical overlap. They are caused by mutations in genes encoding members of the BRG1- and BRM-associated factor (BAF) complex. ...

    journal_title：Human genetics

    pub_type： 临床试验,杂志文章,多中心研究

    doi：10.1007/s00439-015-1535-8

    authors： Bramswig NC,Lüdecke HJ,Alanay Y,Albrecht B,Barthelmie A,Boduroglu K,Braunholz D,Caliebe A,Chrzanowska KH,Czeschik JC,Endele S,Graf E,Guillén-Navarro E,Kiper PÖ,López-González V,Parenti I,Pozojevic J,Utine GE,Wieland T

    更新日期：2015-06-01 00:00:00

  • Haplotype mapping of the bronchiolitis susceptibility locus near IL8.

    abstract：:Susceptibility to viral bronchiolitis, the commonest cause of infant admissions to hospital in the industrialised world, is associated with polymorphism at the IL8 locus. Here we map the genomic boundaries of the disease association by case-control analysis and TDT in 580 affected UK infants. Markers for association m...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-003-1038-x

    authors： Hull J,Rowlands K,Lockhart E,Sharland M,Moore C,Hanchard N,Kwiatkowski DP

    更新日期：2004-02-01 00:00:00

  • A unique genome-wide association analysis in extended Utah high-risk pedigrees identifies a novel melanoma risk variant on chromosome arm 10q.

    abstract：:Only two genome-wide association (GWA) screens have been published for melanoma (Nat Genet 47:920-925, 2009; Nat Genet 40:838-840, 2008). Using a unique approach, we performed a genome-wide association study in 156 related melanoma cases from 34 high-risk Utah pedigrees. Genome-wide association analysis was performed ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-011-1048-z

    authors： Teerlink C,Farnham J,Allen-Brady K,Camp NJ,Thomas A,Leachman S,Cannon-Albright L

    更新日期：2012-01-01 00:00:00

  • Absence of correlation between late-replication and spreading of X inactivation in an X;autosome translocation.

    abstract：:We have analysed the spread of X inactivation in an individual with an unbalanced 46,X,der(X)t(X;10)(q26.3;q23.3) karyotype. Despite being trisomic for the region 10q23.3-qter, both the proband and her aunt with the same karyotype presented only with secondary amenorrhoea and lacked any features normally associated wi...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390100578

    authors： Sharp A,Robinson DO,Jacobs P

    更新日期：2001-09-01 00:00:00

  • Autophagy in aging and longevity.

    abstract：:Our understanding of the process of autophagy and its role in health and diseases has grown remarkably in the last two decades. Early work established autophagy as a general bulk recycling process which involves the sequestration and transport of intracellular material to the lysosome for degradation. Currently, autop...

    journal_title：Human genetics

    pub_type： 杂志文章,评审

    doi：10.1007/s00439-019-02031-7

    authors： Wong SQ,Kumar AV,Mills J,Lapierre LR

    更新日期：2020-03-01 00:00:00

  • Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family.

    abstract：:Autosomal dominant familial spastic paraplegias (AD-FSP) are a group of genetically heterogeneous diseases characterised by a progressive spasticity of the lower limbs. Three loci have already been identified by genetic linkage studies on chromosomes 2p, 14q and 15q. Here we present linkage data from a large German fa...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390050223

    authors： Bürger J,Metzke H,Paternotte C,Schilling F,Hazan J,Reis A

    更新日期：1996-09-01 00:00:00

  • Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia.

    abstract：:The activity of complex I of the mitochondrial respiratory chain has been found to be decreased in patients with Parkinson's disease (PD), but no mutations have been identified in genes encoding complex I subunits. Recent studies have suggested that polymorphisms in mitochondrial DNA (mtDNA)-encoded complex I genes (M...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-004-1123-9

    authors： Autere J,Moilanen JS,Finnilä S,Soininen H,Mannermaa A,Hartikainen P,Hallikainen M,Majamaa K

    更新日期：2004-06-01 00:00:00

  • Loss of heterozygosity on chromosome 11p13 in primary bladder carcinoma.

    abstract：:Although the occurrence of bladder cancer is common, the molecular events underlying the pathogenesis of this cancer remain ill-defined. A loss of heterozygosity (LOH) at specific chromosomal loci may predispose individuals to the development of bladder cancer but this has not been examined in detail. Furthermore, the...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00217771

    authors： Shipman R,Schraml P,Colombi M,Raefle G,Ludwig CU

    更新日期：1993-06-01 00:00:00