当前位置： SCI文献检索 > JOURNAL OF HUMAN GENETICS期刊下所有文献 > Including non-informative parents in transmission-based association tests.

Including non-informative parents in transmission-based association tests.

Abstract：

:The classical transmission disequilibrium test (TDT) based on a trio design uses information only on the allele transmitted by a heterozygous parent at a marker locus as homozygous parents are non-informative about linkage. However, the phenotype of an offspring depends on the alleles transmitted by both parents, irrespective of whether the parents are homozygous or heterozygous, and hence carry useful information on association. In this article, we propose modifications to the TDT procedures by incorporating transmission data on both parents in an informative trio to explore possible gain in power in detecting association. For a binary trait, we use a goodness-of-fit χ2 test, whereas for a quantitative trait, we devise two tests: one based on a bivariate response logistic model and the other using a quasi-likelihood approach. We evaluate the type 1 errors and the powers of the proposed tests with those of the classical TDT procedures for both binary and quantitative traits based on extensive simulations. We find that the inclusion of transmission data on non-informative parents yields marginally higher power in the logistic regression approach but results in substantial gain in power in the quasi-likelihood approach. We apply our proposed methods to analyze a count phenotype related to alcoholism.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Kulkarni H,Ghosh S

doi

10.1038/jhg.2017.9

subject

Has Abstract

pub_date

2017-06-01 00:00:00

pages

621-629

issue

6

eissn

1434-5161

issn

1435-232X

pii

jhg20179

journal_volume

62

pub_type

杂志文章

相关文献

JOURNAL OF HUMAN GENETICS文献大全
  • DNase II polymorphisms associated with risk of renal disorder among systemic lupus erythematosus patients.

    abstract：:DNase II is an important enzyme for DNA fragmentation and degradation during programmed cell death and, consequently, a potential candidate gene for genetic study of systemic lupus erythematosus (SLE). Genetic associations of DNase II with SLE and related phenotypes were examined in Korean patients with SLE. A total o...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-004-0227-3

    authors： Shin HD,Park BL,Cheong HS,Lee HS,Jun JB,Bae SC

    更新日期：2005-01-01 00:00:00

  • Association of IREB2 and CHRNA3/5 polymorphisms with COPD and COPD-related phenotypes in a Chinese Han population.

    abstract：:Genome-wide association studies and integrative genomics approaches have demonstrated significant associations between chronic obstructive pulmonary disease (COPD) and single-nucleotide polymorphisms (SNPs) in the chromosome 15q25 region that includes iron-responsive element binding protein 2 gene (IREB2) and CHRNA3/5...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2012.104

    authors： Zhou H,Yang J,Li D,Xiao J,Wang B,Wang L,Ma C,Xu S,Ou X,Feng Y

    更新日期：2012-11-26 00:00:00

  • A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet.

    abstract：:Mirror-image polydactyly of hands and feet (MIP) is a very rare congenital anomaly characterized by mirror-image duplication of digits. To isolate the gene responsible for MIP, we performed translocation breakpoint cloning from an MIP patient with t(2;14)(p23.3;q13). We isolated a good candidate gene for MIP that was ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380200015

    authors： Kondoh S,Sugawara H,Harada N,Matsumoto N,Ohashi H,Sato M,Kantaputra PN,Ogino T,Tomita H,Ohta T,Kishino T,Fukushima Y,Niikawa N,Yoshiura K

    更新日期：2002-01-01 00:00:00

  • Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family.

    abstract：:Autosomal dominant nonsyndromic hearing loss (ADNSHL/DFNA) is a highly genetically heterogeneous disorder. Hitherto only about 30 ADNSHL-causing genes have been identified and many unknown genes remain to be discovered. In this research, genome-wide linkage analysis mapped the disease locus to a 4.3 Mb region on chrom...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2014.114

    authors： Wang H,Wang X,He C,Li H,Qing J,Grati M,Hu Z,Li J,Hu Y,Xia K,Mei L,Wang X,Yu J,Chen H,Jiang L,Liu Y,Men M,Zhang H,Guan L,Xiao J,Zhang J,Liu X,Feng Y

    更新日期：2015-03-01 00:00:00

  • Anxiety traits associated with a polymorphism in the serotonin transporter gene regulatory region in the Japanese.

    abstract：:We determined polymorphism in the serotonin (5-HT) transporter gene-linked polymorphic region (5-HTTLPR) in 501 healthy Japanese, individuals, using the polymerase chain reaction of Lesch et al., with minor modifications. The distribution of allele frequencies was determined and found to differ from that in Caucasians...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050098

    authors： Murakami F,Shimomura T,Kotani K,Ikawa S,Nanba E,Adachi K

    更新日期：1999-01-01 00:00:00

  • A genealogical assessment of familial clustering of anorectal malformations.

    abstract：:Familial recurrence of anorectal malformations (ARMs) has been reported in single institution case series and in two population-based studies. Here, we investigate the familial aggregation of ARMs using well-established, unbiased methods in a population genealogy of Utah. Study subjects included 255 ARM cases identifi...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-018-0487-y

    authors： Teerlink CC,Bernhisel R,Cannon-Albright LA,Rollins MD

    更新日期：2018-10-01 00:00:00

  • Y chromosome of Aisin Gioro, the imperial house of the Qing dynasty.

    abstract：:The House of Aisin Gioro is the imperial family of the last dynasty in Chinese history-Qing dynasty (1644-1911). The Aisin Gioro family originated from Jurchen tribes and founded the Manchu people before they conquered China. By investigating the Y chromosomal short tandem repeats (STRs) of seven modern male individua...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2015.28

    authors： Yan S,Tachibana H,Wei LH,Yu G,Wen SQ,Wang CC

    更新日期：2015-06-01 00:00:00

  • Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation.

    abstract：:We report the clinical and biochemical findings from a patient who presented with Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), an autosomal-dominant disorder characterized by optic atrophy, developmental delay and intellectual disability. In addition, the patient also displays hypotonia, stroke-like episodes...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-017-0398-3

    authors： Martín-Hernández E,Rodríguez-García ME,Chen CA,Cotrina-Vinagre FJ,Carnicero-Rodríguez P,Bellusci M,Schaaf CP,Martínez-Azorín F

    更新日期：2018-04-01 00:00:00

  • Association of melanocortin 1 receptor gene (MC1R) polymorphisms with skin reflectance and freckles in Japanese.

    abstract：:Most studies on the genetic basis of human skin pigmentation have focused on people of European ancestry and only a few studies have focused on Asian populations. We investigated the association of skin reflectance and freckling with genetic variants of melanocortin 1 receptor (MC1R) gene in Japanese. DNA samples were...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2012.96

    authors： Yamaguchi K,Watanabe C,Kawaguchi A,Sato T,Naka I,Shindo M,Moromizato K,Aoki K,Ishida H,Kimura R

    更新日期：2012-11-26 00:00:00

  • Study of MTHFR and MS polymorphisms as risk factors for NTD in the Italian population.

    abstract：:Homozygosity for the C677T mutation in the methylenetetrahydrofolate reductase ( MTHFR) gene is a risk factor for neural tube defects (NTDs) in many populations, including Italians. Another common mutation on the MTHFR gene, A1298C, has also been described as a risk mutation. Furthermore, several studies have suggeste...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380200043

    authors： De Marco P,Calevo MG,Moroni A,Arata L,Merello E,Finnell RH,Zhu H,Andreussi L,Cama A,Capra V

    更新日期：2002-01-01 00:00:00

  • Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.

    abstract：:Methylation-specific (MS) multiplex ligation-dependent probe amplification (MLPA) at two differentially methylated regions (DMRs) at chromosome 11p15, H19-DMR and LIT1-DMR, and microsatellite analysis for uniparental disomy (UPD) at chromosome 7 or 11, have been recommended for the genetic diagnosis of the Beckwith-Wi...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2013.67

    authors： Lee BH,Kim GH,Oh TJ,Kim JH,Lee JJ,Choi SH,Lee JY,Kim JM,Choi IH,Kim YM,Choi JH,Yoo HW

    更新日期：2013-09-01 00:00:00

  • Cloning and characterization of the murine P2XM receptor gene.

    abstract：:We have isolated the murine counterpart of the human P2XM gene (mP2XM), a P2X purinoceptor that is expressed predominantly in skeletal muscle. The mP2XM gene, consisting of 12 exons that span 10 kb of genomic DNA, encodes a 379-amino-acid product with 83% identity to the human homologue. Two potential transmembrane do...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050086

    authors： Nawa G,Urano T,Tokino T,Ochi T,Miyoshi Y

    更新日期：1998-01-01 00:00:00

  • INPPL1 gene mutations in opsismodysplasia.

    abstract：:The INPPL1 (inositol polyphosphate phosphatase-like 1) gene encodes the inositol phosphatase, SHIP2 (for src homology 2 domain-containing inositol phosphatase 2). SHIP2 functions to dephosphorylate, and negatively regulate, the lipid second messenger phosphatidylinositol (3,4,5)P3. SHIP2 has been well studied in the a...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1038/jhg.2016.119

    authors： Fradet A,Fitzgerald J

    更新日期：2017-02-01 00:00:00

  • Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms.

    abstract：:Interstitial deletion of 7q11.23-q21.11 was identified by cytogenetic methods in a 4-year-old boy with Williams syndrome (WS) and infantile spasms. Deletion of the elastin (ELN) gene and the DNA polymorphic markers, D7S1870, D7S2490, D7S2518, and D7S2421, were identified in the patient, but the loci for D7S653 and D7S...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050064

    authors： Mizugishi K,Yamanaka K,Kuwajima K,Kondo I

    更新日期：1998-01-01 00:00:00

  • Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.

    abstract：:Carnitine-acylcarnitine translocase (CACT) and carnitine palmitoyltransferase II (CPT2) are key enzymes for transporting long-chain fatty acids into mitochondria. Deficiencies of these enzymes, which are clinically characterized by life-threatening non-ketotic hypoglycemia and rhabdomyolysis, cannot be distinguished b...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2013.103

    authors： Fukushima T,Kaneoka H,Yasuno T,Sasaguri Y,Tokuyasu T,Tokoro K,Fukao T,Saito T

    更新日期：2013-12-01 00:00:00

  • An integrated genomic analysis of gene-function correlation on schizophrenia susceptibility genes.

    abstract：:Schizophrenia is a highly complex inheritable disease characterized by numerous genetic susceptibility elements, each contributing a modest increase in risk for the disease. Although numerous linkage or association studies have identified a large set of schizophrenia-associated loci, many are controversial. In additio...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.24

    authors： Chu TT,Liu Y

    更新日期：2010-05-01 00:00:00

  • Clinical applications of two-color telomeric fluorescence in situ hybridization for prenatal diagnosis: identification of chromosomal translocation in five families with recurrent miscarriages or a child with multiple congenital anomalies.

    abstract：:Two-color fluorescence in situ hybridization (FISH) analysis using human chromosome arm-specific telomeric probes (telomeric probes) was used successfully to detect each derivative chromosome of a translocation carrier in five couples who requested a prenatal diagnosis in future pregnancies. Most of the human chromoso...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050115

    authors： Wakui K,Tanemura M,Suzumori K,Hidaka E,Ishikawa M,Kubota T,Fukushima Y

    更新日期：1999-01-01 00:00:00

  • Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis.

    abstract：:22q11.2 duplication syndrome has recently been established as a new syndrome manifesting broad clinical phenotypes including mental retardation. It is reciprocal to DiGeorge (DGS)/velo-cardio-facial syndrome (VCFS), in which the same portion of the chromosome is hemizygously deleted. Deletions and duplications of the ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2011.100

    authors： Shimojima K,Okamoto N,Inazu T,Yamamoto T

    更新日期：2011-11-01 00:00:00

  • CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism.

    abstract：:We found that a subject with Cockayne syndrome type A was a compound heterozygote for two new mutations in CKN1 (MIM 216400): a missense mutation (A205P) and a nonsense (E13X) mutation. We also identified and characterized a new common single nucleotide polymorphism in CKN1 in five groups. ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-003-0107-2

    authors： Cao H,Williams C,Carter M,Hegele RA

    更新日期：2004-01-01 00:00:00

  • A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia.

    abstract：:Hypohidrotic ectodermal dysplasia (HED) is characterized by severe hypohidrosis, hypotrichosis, and hypodontia. It can be inherited in autosomal dominant, autosomal recessive, or X-linked patterns. Mutations in the EDA gene, which encodes ectodysplasin-A, are responsible for X-linked HED (XLHED). In the present study,...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-006-0071-8

    authors： Huang C,Yang Q,Ke T,Wang H,Wang X,Shen J,Tu X,Tian J,Liu JY,Wang QK,Liu M

    更新日期：2006-01-01 00:00:00

  • The pharmacogenomics of valproic acid.

    abstract：:Valproic acid is an anticonvulsant and mood-stabilizing drug used primarily in the treatment of epilepsy and bipolar disorder. Adverse effects of valproic acid are rare, but hepatotoxicity is severe in particular in those younger than 2 years old and polytherapy. During valproic acid treatment, it is difficult for pre...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1038/jhg.2017.91

    authors： Zhu MM,Li HL,Shi LH,Chen XP,Luo J,Zhang ZL

    更新日期：2017-12-01 00:00:00

  • Hair roots as an mRNA source for mutation analysis of Usher syndrome-causing genes.

    abstract：:mRNA is an important tool to study the effects of particular mutations on the mode of splicing and transcripts. However, it is often difficult to isolate mRNA because the organ or tissue in which the gene is expressed cannot be sampled. We previously identified two probable splicing mutations (c.6485+5G>A and c.8559-2...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.83

    authors： Nakanishi H,Ohtsubo M,Iwasaki S,Hotta Y,Mizuta K,Mineta H,Minoshima S

    更新日期：2010-10-01 00:00:00

  • Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling.

    abstract：:Fragile X syndrome (FXS) is a neurodevelopmental disorder and a leading monogenic form of cognitive impairment and autism. It is the most common form of inherited mental retardation in males and a significant cause of mental retardation in females. It is caused by the instability and subsequent expansion of the CGG re...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.140

    authors： Martorell L,Nascimento MT,Colome R,Genovés J,Naudó M,Nascimento A

    更新日期：2011-01-01 00:00:00

  • Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations.

    abstract：:Mucolipidosis (ML) III gamma is a rare autosomal-recessive disorder caused by pathogenic mutations in the GNPTG gene. GNPTG encodes the γ-subunit of GlcNAc-1-phosphotransferase that catalyzes mannose 6-phosphate targeting signal synthesis on soluble lysosomal enzymes. ML III gamma patients are characterized by missort...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2016.13

    authors： Velho RV,Ludwig NF,Alegra T,Sperb-Ludwig F,Guarany NR,Matte U,Schwartz IV

    更新日期：2016-06-01 00:00:00

  • HLA and CTLA4 polymorphisms may confer a synergistic risk in the susceptibility to Graves' disease.

    abstract：:Graves' disease (GD) is an autoimmune disease characterized by hyperthyroidism due to the presence of autoantibodies against thyroid-stimulating hormone receptor, which is measured as thyroid-stimulating hormone-binding inhibitory immunoglobulin (TBII). Most of the GD patients are TBII-positive, but TBII is undetectab...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.20

    authors： Takahashi M,Kimura A

    更新日期：2010-05-01 00:00:00

  • Haplotype-based analysis of alpha 2A, 2B, and 2C adrenergic receptor genes captures information on common functional loci at each gene.

    abstract：:The alpha 2-adrenergic receptors (alpha2-AR) mediate physiological effects of epinephrine and norepinephrine. Three genes encode alpha2-AR subtypes carrying common functional polymorphisms (ADRA2A Asn251Lys, ADRA2B Ins/Del301-303 and ADRA2C Ins/Del322-325). We genotyped these functional markers plus a panel of single ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-004-0211-y

    authors： Belfer I,Buzas B,Hipp H,Phillips G,Taubman J,Lorincz I,Evans C,Lipsky RH,Enoch MA,Max MB,Goldman D

    更新日期：2005-01-01 00:00:00

  • Association of an intragenic microsatellite marker in the CC16 gene with asthma in the Indian population.

    abstract：:The gene for Clara cell secretory protein (CC16) is an ideal candidate for investigating genetic predisposition to asthma because of its role in the airway as an anti-inflammatory molecule, differences in its levels between asthmatics and healthy controls, and its genetic location (11q13). We investigated the associat...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-004-0206-8

    authors： Sharma S,Ghosh B

    更新日期：2004-01-01 00:00:00

  • A unique demographic history exists for the MAO-A gene in Polynesians.

    abstract：:Variation in the human monoamine oxidase A (MAO-A) gene can influence neurotransmittor levels and is thought to have a role in many behavioral traits. The genetic architecture of MAO-A is known to vary across different geographic subgroups. Previous studies have reported evidence for positive selection within the MAO-...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2012.19

    authors： Eccles DA,Macartney-Coxson D,Chambers GK,Lea RA

    更新日期：2012-05-01 00:00:00

  • Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion.

    abstract：:With congenital central hypoventilation syndrome (CCHS), most patients have a de novo 5-13 polyalanine expansion mutation in PHOX2B. We reported previously that de novo polyalanine expansion mutations were of paternal origin and were derived from unequal sister chromatid exchange during spermatogenesis in six and four...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2009.109

    authors： Arai H,Otagiri T,Sasaki A,Umetsu K,Hayasaka K

    更新日期：2010-01-01 00:00:00

  • A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease.

    abstract：:Mutations in the voltage-gated chloride/proton antiporter ClC-5 gene, CLCN5, are associated with Dent's disease, an X-linked renal tubulopathy. Our interest is to identify and characterize disease-causing CLCN5 mutations, especially those that alter the splicing of the pre-mRNA. We analyzed the CLCN5 gene from nine un...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0112-y

    authors： Ramos-Trujillo E,González-Acosta H,Flores C,García-Nieto V,Guillén E,Gracia S,Vicente C,Espinosa L,Maseda MAF,Santos F,Camacho JA,Claverie-Martín F

    更新日期：2007-01-01 00:00:00