当前位置： SCI文献检索 > HUMAN GENETICS期刊下所有文献 > Bias, precision and heritability of self-reported and clinically measured height in Australian twins.

Bias, precision and heritability of self-reported and clinically measured height in Australian twins.

Abstract：

:Many studies of quantitative and disease traits in human genetics rely upon self-reported measures. Such measures are based on questionnaires or interviews and are often cheaper and more readily available than alternatives. However, the precision and potential bias cannot usually be assessed. Here we report a detailed quantitative genetic analysis of stature. We characterise the degree of measurement error by utilising a large sample of Australian twin pairs (857 MZ, 815 DZ) with both clinical and self-reported measures of height. Self-report height measurements are shown to be more variable than clinical measures. This has led to lowered estimates of heritability in many previous studies of stature. In our twin sample the heritability estimate for clinical height exceeded 90%. Repeated measures analysis shows that 2-3 times as many self-report measures are required to recover heritability estimates similar to those obtained from clinical measures. Bivariate genetic repeated measures analysis of self-report and clinical height measures showed an additive genetic correlation >0.98. We show that the accuracy of self-report height is upwardly biased in older individuals and in individuals of short stature. By comparing clinical and self-report measures we also showed that there was a genetic component to females systematically reporting their height incorrectly; this phenomenon appeared to not be present in males. The results from the measurement error analysis were subsequently used to assess the effects of error on the power to detect linkage in a genome scan. Moderate reduction in error (through the use of accurate clinical or multiple self-report measures) increased the effective sample size by 22%; elimination of measurement error led to increases in effective sample size of 41%.

journal_name

Hum Genet

journal_title

Human genetics

authors

Macgregor S,Cornes BK,Martin NG,Visscher PM

doi

10.1007/s00439-006-0240-z

subject

Has Abstract

pub_date

2006-11-01 00:00:00

pages

571-80

issue

4

eissn

0340-6717

issn

1432-1203

journal_volume

120

pub_type

杂志文章

相关文献

HUMAN GENETICS文献大全
  • Screening with the FMR1 protein test among mentally retarded males.

    abstract：:The fragile X syndrome is characterized by X-linked mental retardation with additional features such as a long face with large protruding ears, macroorchidism, and eye-gaze avoidance. The disorder is caused by an abnormally expanded CGG repeat within the first exon of the fragile X mental retardation (FMR1) gene that ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390050860

    authors： de Vries BB,Mohkamsing S,van den Ouweland AM,Halley DJ,Niermeijer MF,Oostra BA,Willemsen R

    更新日期：1998-10-01 00:00:00

  • A new polymorphic restriction site at the human atrial natriuretic peptide (hANP) gene locus.

    abstract：:A unique two allele polymorphism for both HpaII and SmaI is described in the second intron of the human atrial natriuretic peptide gene. It should be a useful marker of this candidate gene in familial susceptibility to hypertension. ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00217782

    authors： Ramasawmy R,Kotea N,Lu C,Sayada C,Baligadoo S,Krishnamoorthy R

    更新日期：1993-06-01 00:00:00

  • The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

    abstract：:The last Crypto-Jews (Marranos) are the survivors of Spanish Jews who were persecuted in the late fifteenth century, escaped to Portugal and were forced to convert to save their lives. Isolated groups still exist in mountainous areas such as Belmonte in the Beira-Baixa province of Portugal. We report here the genetic ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390000350

    authors： Gerber S,Rozet JM,Takezawa SI,dos Santos LC,Lopes L,Gribouval O,Penet C,Perrault I,Ducroq D,Souied E,Jeanpierre M,Romana S,Frézal J,Ferraz F,Yu-Umesono R,Munnich A,Kaplan J

    更新日期：2000-09-01 00:00:00

  • Ovarian dysgenesis in individuals with chromosomal abnormalities.

    abstract：:To understand better the pathogenesis of ovarian dysgenesis in individuals with abnormalities such as 45,X Turner syndrome, trisomy 13, and trisomy 18, we have examined microscopically the ovaries of 36 infants with a number of chromosomal abnormalities confirmed by karyotype analysis. All infants with trisomy 13, tri...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00201540

    authors： Cunniff C,Jones KL,Benirschke K

    更新日期：1991-04-01 00:00:00

  • The cataract-linked RNA-binding protein Celf1 post-transcriptionally controls the spatiotemporal expression of the key homeodomain transcription factors Pax6 and Prox1 in lens development.

    abstract：:The homeodomain transcription factors (TFs) Pax6 (OMIM: 607108) and Prox1 (OMIM: 601546) critically regulate gene expression in lens development. While PAX6 mutations in humans can cause cataract, aniridia, microphthalmia, and anophthalmia, among other defects, Prox1 deletion in mice causes severe lens abnormalities, ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-020-02195-7

    authors： Aryal S,Viet J,Weatherbee BAT,Siddam AD,Hernandez FG,Gautier-Courteille C,Paillard L,Lachke SA

    更新日期：2020-12-01 00:00:00

  • New insights into the effects of extra nucleolus organizer regions.

    abstract：:Chromosome studies were carried out in four members of a sibship with a 15p+ chromosome. Two carriers had normal offspring, one was unmarried, and the index case had three abortions and no live children. By means of different banding techniques, up to four satellites and four stalks could be observed on the abnormal c...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00278823

    authors： Pérez-Castillo A,Martín-Lucas MA,Abrisqueta JA

    更新日期：1986-01-01 00:00:00

  • Multiple mutations underlying familial hypercholesterolemia in the South African population.

    abstract：:Ten restriction fragment length polymorphisms of the LDL receptor gene were used for haplotype analysis in 12 unrelated patients with homozygous familial hypercholesterolemia. These patients were drawn from the Black, Coloured, and White population groups and collectively represent 24 mutant alleles underlying the FH ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00274151

    authors： Henderson HE,Kotze MJ,Berger GM

    更新日期：1989-08-01 00:00:00

  • Fine mapping of the constitutional translocation t(11;22)(q23;q11).

    abstract：:Translocation t(11;22)(q23;q11) is the most common constitutional reciprocal translocation in man. Balanced carriers are phenotypically normal, except for decreased fertility, an increased spontaneous abortion rate and a possible predisposition to breast cancer in some families. Here, we report the high resolution map...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390000287

    authors： Tapia-Páez I,O'Brien KP,Kost-Alimova M,Sahlén S,Kedra D,Bruder CE,Andersson B,Roe BA,Hu P,Imreh S,Blennow E,Dumanski JP

    更新日期：2000-05-01 00:00:00

  • Detection of beta-thalassemia and hemoglobin E genes in Thai by a DNA amplification technique.

    abstract：:Enzymatic DNA amplification and polyacrylamide gel electrophoresis, which demonstrate different sizes of DNA fragments, were used to detect the common mutations causing beta-thalassemia and hemoglobin (Hb) E in Thai people. The 4-bp deletion at codons 41 and 42 can be detected directly by polyacrylamide gel electropho...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00274004

    authors： Winichagoon P,Kownkon J,Yenchitsomanus P,Thonglairoam V,Siritanaratkul N,Fucharoen S

    更新日期：1989-07-01 00:00:00

  • Extensively high load of internal tumors determined by whole body MRI scanning in a patient with neurofibromatosis type 1 and a non-LCR-mediated 2-Mb deletion in 17q11.2.

    abstract：:Deletions in 17q11.2 affecting the NF1 gene and surrounding regions occur in 5% of patients with NF1. The two major types of NF1 deletions encompass 1.4-Mb and 1.2-Mb, respectively, and have breakpoints in the NF1 low-copy repeats or in the JJAZ gene and its pseudogene. Deletions larger than 1.4-Mb are rare, and only ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-005-1265-4

    authors： Kehrer-Sawatzki H,Kluwe L,Fünsterer C,Mautner VF

    更新日期：2005-05-01 00:00:00

  • A rapid technique for producing silver-stained nucleolus organizer regions and trypsin-giemsa bands on human chromosomes.

    abstract：:A simple and rapid technique is described whereby the nucleolus organizer regions (NORs) of human chromosomes can be differentially stained with silver. This staining is followed by trypsin-Giemsa banding on the same metaphase chromosomes. The metaphases simultaneously exhibit silver-stained NORs and G bands, allowing...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00396478

    authors： Howell WM,Black DA

    更新日期：1978-07-12 00:00:00

  • The advantages of dense marker sets for linkage analysis with very large families.

    abstract：:Dense sets of hundreds of thousands of markers have been developed for genome-wide association studies. These marker sets are also beneficial for linkage analysis of large, deep pedigrees containing distantly related cases. It is impossible to analyse jointly all genotypes in large pedigrees using the Lander-Green Alg...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-007-0323-5

    authors： Thomson R,Quinn S,McKay J,Silver J,Bahlo M,FitzGerald L,Foote S,Dickinson J,Stankovich J

    更新日期：2007-05-01 00:00:00

  • Genetic susceptibility to pre-eclampsia and chromosome 7q36.

    abstract：:Pre-eclampsia is the most common serious medical disorder of human pregnancy. The human endothelial cell nitric oxide synthase (eNOS) gene is a candidate for pre-eclampsia/eclampsia (PE/E) susceptibility. A linkage study was performed on Australian PE/E families using 25 microsatellite markers from chromosome 7, one o...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004399900172

    authors： Guo G,Lade JA,Wilton AN,Moses EK,Grehan M,Fu Y,Qiu H,Cooper DW,Brennecke SP

    更新日期：1999-12-01 00:00:00

  • Cytogenetic studies in a Y-to-X translocation observed in three members of one family, with evidence of infertility in male carriers.

    abstract：:A family is reported in which the mother and two sons are carriers of a Y-to-X translocation, der (X)t(X;Y) (p22;q11). All the the three carriers have short stature and disproportion of extremities, but otherwise normal phenotype. One of the sons, the propositus, has been affected with schizophrenia. Evidence was obta...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00281273

    authors： Yamada K,Nanko S,Hattori S,Isurugi K

    更新日期：1982-01-01 00:00:00

  • Quantification of the paternal allele bias for new germline mutations in the retinoblastoma gene.

    abstract：:New germline mutations in the human retinoblastoma gene are known to arise preferentially on paternally derived chromosomes, but the magnitude of that bias has not been measured. We evaluated 49 cases with a new germline mutation and found that in 40 cases (82%) the mutation arose on the paternally derived allele. We ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390050531

    authors： Dryja TP,Morrow JF,Rapaport JM

    更新日期：1997-09-01 00:00:00

  • Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas.

    abstract：:Using a heteroduplex approach and direct sequencing, we have completed the screening of approximately 88% of the neurofibromatosis type 2 (NF2)-coding sequence of DNA extracted from 33 schwannomas from NF2 patients and from 29 patients with sporadic schwannomas. The extensive screening has resulted in the identificati...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390050188

    authors： Welling DB,Guida M,Goll F,Pearl DK,Glasscock ME,Pappas DG,Linthicum FH,Rogers D,Prior TW

    更新日期：1996-08-01 00:00:00

  • Is there a correlation between morphological and cytogenetic findings in placental tissue from early missed abortions?

    abstract：:A retrospective study of 200 missed abortions was performed to determine whether morphological criteria alone are sufficient to ascertain a chromosomal aetiology. Placental changes were classified into five morphological and four morphometric groups, according to the severity of alterations, and were then correlated w...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00274002

    authors： Rehder H,Coerdt W,Eggers R,Klink F,Schwinger E

    更新日期：1989-07-01 00:00:00

  • Genome-wide methylation analysis in Silver-Russell syndrome patients.

    abstract：:Silver-Russell syndrome (SRS) is a clinically heterogeneous disorder characterised by severe in utero growth restriction and poor postnatal growth, body asymmetry, irregular craniofacial features and several additional minor malformations. The aetiology of SRS is complex and current evidence strongly implicates imprin...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-014-1526-1

    authors： Prickett AR,Ishida M,Böhm S,Frost JM,Puszyk W,Abu-Amero S,Stanier P,Schulz R,Moore GE,Oakey RJ

    更新日期：2015-03-01 00:00:00

  • Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes.

    abstract：:One of the many potential uses of the HapMap project is its application to the investigation of complex disease aetiology among a wide range of populations. This study aims to assess the transferability of HapMap SNP data to the Spanish population in the context of cancer research. We have carried out a genotyping stu...

    journal_title：Human genetics

    pub_type： 杂志文章,评审

    doi：10.1007/s00439-005-0094-9

    authors： Ribas G,González-Neira A,Salas A,Milne RL,Vega A,Carracedo B,González E,Barroso E,Fernández LP,Yankilevich P,Robledo M,Carracedo A,Benítez J

    更新日期：2006-02-01 00:00:00

  • Evidence of distinct RELN and TGFB1 genetic associations in familial and non-familial otosclerosis in a British population.

    abstract：:Otosclerosis is a common form of hearing loss which typically presents in young adults. The disease has a familial, monogenic form and a non-familial form with a more complex aetiology. A previous genome wide association study identified evidence that variants within RELN are associated with the condition. Other genes...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-018-1889-9

    authors： Mowat AJ,Crompton M,Ziff JL,Aldren CP,Lavy JA,Saeed SR,Dawson SJ

    更新日期：2018-05-01 00:00:00

  • Missing heritability of common diseases and treatments outside the protein-coding exome.

    abstract：:Genetic factors strongly influence risk of common human diseases and treatment outcomes but the causative variants remain largely unknown; this gap has been called the 'missing heritability'. We propose several hypotheses that in combination have the potential to narrow the gap. First, given a multi-stage path from we...

    journal_title：Human genetics

    pub_type： 杂志文章,评审

    doi：10.1007/s00439-014-1476-7

    authors： Sadee W,Hartmann K,Seweryn M,Pietrzak M,Handelman SK,Rempala GA

    更新日期：2014-10-01 00:00:00

  • An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes.

    abstract：:A reliable technique for staining human chromosomal nucleolar organizers (NOR's) with silver solutions is described. The NOR's can be selectively stained dark brown by silver solutions leaving the chromosome arms unstained and available for counterstaining with orcein or Giemsa dyes. Unequivocal identification of chro...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00278889

    authors： Bloom SE,Goodpasture C

    更新日期：1976-10-28 00:00:00

  • Integrating pathway analysis and genetics of gene expression for genome-wide association study of basal cell carcinoma.

    abstract：:Genome-wide association studies (GWASs) have primarily focused on marginal effects for individual markers and have incorporated external functional information only after identifying robust statistical associations. We applied a new approach combining the genetics of gene expression and functional classification of ge...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-011-1107-5

    authors： Zhang M,Liang L,Morar N,Dixon AL,Lathrop GM,Ding J,Moffatt MF,Cookson WO,Kraft P,Qureshi AA,Han J

    更新日期：2012-04-01 00:00:00

  • Induction of full-length survival motor neuron by polyphenol botanical compounds.

    abstract：:The loss of survival motor neuron-1 (SMN1) is responsible for the development of the neurodegenerative disorder spinal muscular atrophy (SMA). A nearly identical copy of SMN1 is present on the same chromosomal region called SMN2. While SMN2 encodes a normal SMN protein, the majority of SMN2-derived transcripts are alt...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-007-0441-0

    authors： Sakla MS,Lorson CL

    更新日期：2008-01-01 00:00:00

  • Interaction between obesity and genetic polymorphisms in the apolipoprotein CIII gene and lipoprotein lipase gene on the risk of hypertriglyceridemia in Chinese.

    abstract：:To understand the effects of the interaction between genetic polymorphisms and obesity on the risk of hypertriglyceridemia (HTG), two polymorphisms, an SstI polymorphism on the apolipoprotein CIII gene and a HindIII polymorphism on the lipoprotein lipase gene, were analyzed in 339 Chinese subjects with (82 cases in th...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s004390050511

    authors： Ko YL,Ko YS,Wu SM,Teng MS,Chen FR,Hsu TS,Chiang CW,Lee YS

    更新日期：1997-09-01 00:00:00

  • High resolution multicolor fluorescence in situ hybridization using cyanine and fluorescein dyes: rapid chromosome identification by directly fluorescently labeled alphoid DNA probes.

    abstract：:We tested DNA probes directly labeled by fluorescently labeled nucleotides (Cy3-dCTP, Cy5-dCTP, FluorX-dCTP) for high resolution uni- and multicolor detection of human chromosomes and analysis of centromeric DNA organization by in situ hybridization. Alpha-satellite DNA probes specific to chromosomes 1, 2, 3, 4 + 9, 5...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF02185780

    authors： Yurov YB,Soloviev IV,Vorsanova SG,Marcais B,Roizes G,Lewis R

    更新日期：1996-03-01 00:00:00

  • Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.

    abstract：:Generalised lymphatic dysplasia (GLD) is characterised by extensive peripheral lymphoedema with visceral involvement. In some cases, it presents in utero with hydrops fetalis. Autosomal dominant and recessive inheritance has been reported. A large, non-consanguineous family with three affected siblings with generalise...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/s00439-009-0766-y

    authors： Connell F,Kalidas K,Ostergaard P,Brice G,Homfray T,Roberts L,Bunyan DJ,Mitton S,Mansour S,Mortimer P,Jeffery S,Lymphoedema Consortium.

    更新日期：2010-02-01 00:00:00

  • Two intragenic polymorphisms of the APC-gene detected by PCR and enzymatic digestion.

    abstract：:The gene causing adenomatous polyposis coli (APC) has recently been cloned. Three intragenic polymorphisms were reported to be detectable by single-strand conformation polymorphism analysis. Here, we describe an assay using polymerase-chain-reaction-based amplification and subsequent enzymatic digestion of genomic seq...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF02265305

    authors： Kraus C,Ballhausen WG

    更新日期：1992-03-01 00:00:00

  • Detection of a Tsp509I polymorphism in the 3' UTR of the human tyrosinase related protein-1 (TYRP) gene.

    abstract：:We have identified a Tsp509I polymorphism in the 3' UTR of the human tyrosinase related protein-1 gene (TYRP). TYRP is one of several genes involved in melanin pigment production. ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00209417

    authors： Wildenberg SC,King RA,Oetting WS

    更新日期：1995-02-01 00:00:00

  • Apolipoprotein B amino acid 3611 substitution from arginine to glutamine creates the Ag (h/i) epitope: the polymorphism is not associated with differences in serum cholesterol and apolipoprotein B levels.

    abstract：:A G- to A-DNA sequence change in exon 26 of the human apolipoprotein B (apo B) gene leads to a glutamine substitution for arginine at codon 3611 of the mature apolipo-protein B100 and causes a loss of an MspI site. In 106 Finnish individuals, a complete correspondence exists between this MspI polymorphic site and the ...

    journal_title：Human genetics

    pub_type： 杂志文章

    doi：10.1007/BF00273990

    authors： Xu CF,Nanjee N,Tikkanen MJ,Huttunen JK,Pietinen P,Bütler R,Angelico F,Del Ben M,Mazzarella B,Antonio R

    更新日期：1989-07-01 00:00:00