当前位置： SCI文献检索 > JOURNAL OF HUMAN GENETICS期刊下所有文献 > A two-stage case-control association study of the dihydropyrimidinase-like 2 gene (DPYSL2) with schizophrenia in Japanese subjects.

A two-stage case-control association study of the dihydropyrimidinase-like 2 gene (DPYSL2) with schizophrenia in Japanese subjects.

Abstract：

:We examined the association of schizophrenia (SCZ) and dihydropyrimidinase-like 2 (DPYSL2), also known as collapsin response mediator protein 2, which regulates axonal growth and branching. We genotyped 20 tag single nucleotide polymorphisms (SNPs) in 1464 patients and 1310 controls. There were two potential associations in a screening population of 384 patients and 384 controls (rs2585458: P=0.046, rs4733048: P=0.014). However, we could not replicate these associations in a confirmatory population of 1080 patients and 926 controls (rs2585458: P=0.39, rs4733048: P=0.70) or a joint analysis (rs2585458: P=0.72, rs4733048: P=0.10). We conclude that DPYSL2 does not have a major function in SCZ in Japanese subjects.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Koide T,Aleksic B,Ito Y,Usui H,Yoshimi A,Inada T,Suzuki M,Hashimoto R,Takeda M,Iwata N,Ozaki N

doi

10.1038/jhg.2010.38

subject

Has Abstract

pub_date

2010-07-01 00:00:00

pages

469-72

issue

7

eissn

1434-5161

issn

1435-232X

pii

jhg201038

journal_volume

55

pub_type

杂志文章

相关文献

JOURNAL OF HUMAN GENETICS文献大全
  • Characterization of a novel loss-of-function variant in TDP2 in two adult patients with spinocerebellar ataxia autosomal recessive 23 (SCAR23).

    abstract：:TDP2 encodes a 5'-tyrosyl DNA phosphodiesterase required for the efficient repair of double-strand breaks (DSBs) induced by the abortive activity of DNA topoisomerase II (TOP2). To date, only three homozygous variants in TDP2 have been reported in six patients from four unrelated pedigrees with spinocerebellar ataxia ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-020-0800-4

    authors： Errichiello E,Zagnoli-Vieira G,Rizzi R,Garavelli L,Caldecott KW,Zuffardi O

    更新日期：2020-12-01 00:00:00

  • Genome-wide association studies in Samoans give insight into the genetic architecture of fasting serum lipid levels.

    abstract：:The current understanding of the genetic architecture of lipids has largely come from genome-wide association studies (GWAS). To date, few GWAS have examined the genetic architecture of lipids in Polynesians, and none have in Samoans, whose unique population history, including many population bottlenecks, may provide ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-020-0816-9

    authors： Carlson JC,Weeks DE,Hawley NL,Sun G,Cheng H,Naseri T,Reupena MS,Tuitele J,Deka R,McGarvey ST,Minster RL

    更新日期：2021-02-01 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

  • 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

  • Incomplete cryptic splicing by an intronic mutation of OCRL in patients with partial phenotypes of Lowe syndrome.

    abstract：:Mutations of OCRL cause Lowe syndrome, which is characterised by congenital cataracts, infantile hypotonia with mental retardation, and renal tubular dysfunction and Dent-2 disease, which only affects the kidney. While few patients with an intermediate phenotype between these diseases have been reported, the mechanism...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-020-0773-3

    authors： Nakano E,Yoshida A,Miyama Y,Yabuuchi T,Kajiho Y,Kanda S,Miura K,Oka A,Harita Y

    更新日期：2020-10-01 00:00:00

  • Fluorescence in situ hybridisation (FISH) analysis of chromosome segregation and interchromosomal effect in spermatozoa of a reciprocal translocation t(9,10)(q11;p11.1) carrier.

    abstract：:A couple was referred for exploration of repetitive abortions. The man was found to be a carrier of a balanced reciprocal translocation t(9;10)(q11;p11.1). The meiotic segregation of chromosomes 9 and 10 was analysed in 5,157 spermatozoa from this translocation carrier and in 15,255 spermatozoa from three control dono...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-003-0072-9

    authors： Rives N,Jarnot M,Mousset-Siméon N,Joly G,Macé B

    更新日期：2003-01-01 00:00:00

  • Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency.

    abstract：:In successive reports from 2014 to 2015, X-ray repair cross-complementing protein 4 (XRCC4) has been identified as a novel causative gene of primordial dwarfism. XRCC4 is indispensable for non-homologous end joining (NHEJ), the major pathway for repairing DNA double-strand breaks. As NHEJ is essential for V(D)J recomb...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1038/jhg.2016.46

    authors： Saito S,Kurosawa A,Adachi N

    更新日期：2016-08-01 00:00:00

  • A frameshift variant of CYP2C8 was identified in a patient who suffered from rhabdomyolysis after administration of cerivastatin.

    abstract：:A hypercholesterolemic patient medicated with cerivastatin for 22 days resulted in acute rhabdomyolysis. CYP2C8 and CYP3A4 are the major enzymes responsible for the metabolism of cerivastatin, and a transporter, OATP2, contributes to uptake of cerivastatin to the liver. In this study, the patient's DNA was sequenced i...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-004-0188-6

    authors： Ishikawa C,Ozaki H,Nakajima T,Ishii T,Kanai S,Anjo S,Shirai K,Inoue I

    更新日期：2004-01-01 00:00:00

  • "Distribution of paternal lineages in Mestizo populations throughout Mexico: an in silico study based on Y-STR haplotypes".

    abstract：:The Mexican-Mestizo population arose following European contact with the Americas due to the admixture of principally Spaniards, Native Americans, and Africans around 500 years ago. Because the paternal lineage distribution of the Mexican population has been poorly investigated, this study inferred the haplogroups of ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-020-00824-7

    authors： Aguilar-Velázquez JA,Rangel-Villalobos H

    更新日期：2021-03-01 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

  • Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia.

    abstract：:Geleophysic dysplasia (GD), acromicric dysplasia (AD) and Weill-Marchesani syndrome (WMS) are rare disorders with overlapping characteristics, such as short stature, short hands and feet, joint limitations, skin thickening, mild facial anomalies, normal intelligence and abnormal skeletal symptoms, with GD distinct by ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2014.73

    authors： Wang Y,Zhang H,Ye J,Han L,Gu X

    更新日期：2014-10-01 00:00:00

  • Mutation identification and characterization of a Taiwanese patient with fucosidosis.

    abstract：:Fucosidosis is a rare lysosomal storage disease caused by a defect of the alpha-L: -fucosidase (FUCA1) gene. Worldwide 26 mutations underlying the disease have been reported. By direct DNA sequencing of exons and flanking introns, homozygous Y126X mutation and Q281R polymorphism were found in a Taiwanese patient with ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0136-3

    authors： Lin SP,Chang JH,de la Cadena MP,Chang TF,Lee-Chen GJ

    更新日期：2007-01-01 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

  • Association between the PPARalpha-L162V polymorphism and components of the metabolic syndrome.

    abstract：:Genetic factors, alone or in interaction with components of the diet, are thought to be involved in the development of the metabolic syndrome. The objective of our study was first to compare the frequency of the peroxisome proliferator-activated receptor (PPAR)alpha-L162V polymorphism in a sample of men with and witho...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-004-0177-9

    authors： Robitaille J,Brouillette C,Houde A,Lemieux S,Pérusse L,Tchernof A,Gaudet D,Vohl MC

    更新日期：2004-01-01 00:00:00

  • Adult onset limb-girdle type mitochondrial myopathy with a mitochondrial DNA np8291 A-to-G substitution.

    abstract：:We analyzed mitochondrial DNA (mtDNA) from 7 patients in four families with adult onset limb-girdle type mitochondrial myopathy to clarify their genetic background. The patients, 2 men and 5 women, showed common clinical features, characterized by isolated skeletal myopathy, high serum creatine kinase level, ragged-re...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050145

    authors： Hirata K,Nakagawa M,Higuchi I,Hashimoto K,Hanada K,Takahashi K,Niiyama T,Izumi K,Sakoda S,Yamada H,Osame M

    更新日期：1999-01-01 00:00:00

  • De novo 617G-A nucleotide mutation in the ACVR1 gene in a Taiwanese patient with fibrodysplasia ossificans progressiva.

    abstract：:Fibrodysplasia ossificans progressiva (FOP) is a rare congenital disease with autosomal dominant transmission characterized by the presence of malformations of the big toes and of postnatal progressive heterotopic endochondral osteogenesis. We report the case of 3-year-old girl with dysplasia of the first metatarsal b...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-006-0069-2

    authors： Lin GT,Chang HW,Liu CS,Huang PJ,Wang HC,Cheng YM

    更新日期：2006-01-01 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

  • A combined linkage and association strategy identifies a variant near the GSTP1 gene associated with BMI in the Mexican population.

    abstract：:Obesity is a major public health concern in Mexico and worldwide. Although the estimated heritability is high, common variants identified by genome-wide association studies explain only a small proportion of this heritability. A combination of linkage and association strategies could be a more robust and powerful appr...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2016.145

    authors： Villamil-Ramírez H,León-Mimila P,Macias-Kauffer LR,Canizalez-Román A,Villalobos-Comparán M,León-Sicairos N,Vega-Badillo J,Sánchez-Muñoz F,López-Contreras B,Morán-Ramos S,Villarreal-Molina T,Zurita LC,Campos-Pérez F,Huertas-Vazq

    更新日期：2017-03-01 00:00:00

  • Two novel nonsense mutations in GALNT3 gene are responsible for familial tumoral calcinosis.

    abstract：:Ectopic periarticular calcifications associated with elevated levels of serum phosphate represent the principal clinical features of hyperphosphatemic familial tumoral calcinosis (HFTC), a rare autosomal recessive metabolic disorder. The disease can be caused by recessive mutations in at least two different genes: Gal...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0126-5

    authors： Barbieri AM,Filopanti M,Bua G,Beck-Peccoz P

    更新日期：2007-01-01 00:00:00

  • New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.

    abstract：:Congenital myopathies (CMs) are a heterogeneous group of muscle diseases characterized by hypotonia, delayed motor skills and muscle weakness with onset during the first years of life. The diagnostic workup of CM is highly dependent on the interpretation of the muscle histology, where typical pathognomonic findings ar...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2016.2

    authors： Oliveira J,Gonçalves A,Taipa R,Melo-Pires M,Oliveira ME,Costa JL,Machado JC,Medeiros E,Coelho T,Santos M,Santos R,Sousa M

    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

  • Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.

    abstract：:Hypohidrotic ectodermal dysplasia (HED), a rare and heterogeneous hereditary disorder, is characterized by deficient development of multiple ectodermal structures including hair, sweat glands and teeth. If caused by mutations in the genes EDA, EDA1R or EDARADD, phenotypes are often very similar as the result of a comm...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2016.75

    authors： Wohlfart S,Hammersen J,Schneider H

    更新日期：2016-10-01 00:00:00

  • Differences in allele frequencies of autosomal dominant hypercholesterolemia SNPs in the Malaysian population.

    abstract：:Hypercholesterolemia is caused by different interactions of lifestyle and genetic determinants. At the genetic level, it can be attributed to the interactions of multiple polymorphisms, or as in the example of familial hypercholesterolemia (FH), it can be the result of a single mutation. A large number of genetic mark...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2012.34

    authors： Alex L,Chahil JK,Lye SH,Bagali P,Ler LW

    更新日期：2012-06-01 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

  • Dinucleotide repeat polymorphism in the first intron of the CSR gene.

    abstract：:The CSR (cellular stress response) gene encodes a protein that structurally resembles the macrophage scavenger receptor, and is a potent regulator of intracellular reactive oxygen intermediates. We found a polymorphic dinucleotide repeat in the first intron of the CSR gene. This polymorphism will be a useful genetic m...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050074

    authors： Han HJ,Nakamura Y

    更新日期：1998-01-01 00:00:00

  • A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome.

    abstract：:Leigh syndrome is one of the most common subtypes of mitochondrial disease. Mutations in encoding genes of oxidative phosphorylation complexes have been frequently reported, of which, MTATP6 was one of the most frequently reported genes for Leigh syndrome. In this study, by using next-generation sequencing targeted to...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-018-0505-0

    authors： Lou X,Shi H,Wen S,Li Y,Wei X,Xie J,Ma L,Yang Y,Fang H,Lyu J

    更新日期：2018-12-01 00:00:00

  • PLA2G6-associated neurodegeneration presenting as a complicated form of hereditary spastic paraplegia.

    abstract：:PLA2G6-associated neurodegeneration (PLAN) comprises heterogeneous neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration with brain iron accumulation 2B, and Parkinson disease 14 (PARK14). In addition, very recently, PLA2G6 mutations have been reported to represent a phenotype of he...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-018-0519-7

    authors： Koh K,Ichinose Y,Ishiura H,Nan H,Mitsui J,Takahashi J,Sato W,Itoh Y,Hoshino K,Tsuji S,Takiyama Y,Japan Spastic Paraplegia Research Consotium.

    更新日期：2019-01-01 00:00:00

  • The identification of two pathogenic variants in a family with mild and severe forms of developmental delay.

    abstract：:Intellectual disability (ID) accounts for 1% of the general population, and it is caused by the interplay between the genetic and/or environmental factors. The genetic components responsible for the development of ID are highly heterogeneous, and the phenotype and severity of the disease vary in patients even if they ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-020-0809-8

    authors： Miyake N,Heydari S,Garshasbi M,Saitoh S,Nasiri J,Hamanaka K,Takata A,Matsumoto N,Beheshti FH,Chaleshtori ARS

    更新日期：2020-10-09 00:00:00

  • Interleukin 3 (IL3) polymorphisms associated with decreased risk of asthma and atopy.

    abstract：:Cytokines, having central functions in immunological and inflammatory process, are always expected to play important roles in the pathogenesis of various diseases, such as asthma. Genetic polymorphisms of those cytokine and cytokine receptor genes are the focus of genetic association studies. In an effort to identify ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-004-0184-x

    authors： Park BL,Kim LH,Choi YH,Lee JH,Rhim T,Lee YM,Uh ST,Park HS,Choi BW,Hong SJ,Park CS,Shin HD

    更新日期：2004-01-01 00:00:00

  • Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease.

    abstract：:Heterozygous pathogenic variants in SLC12A2 are reported in patients with nonsyndromic hearing loss. Recently, homozygous loss-of-function variants have been reported in two patients with syndromic intellectual disability, with or without hearing loss. However, the clinical and molecular spectrum of SLC12A2 disease ha...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-021-00904-2

    authors： Bilal Shamsi M,Saleh M,Almuntashri M,Alharby E,Samman M,Peake RWA,Al-Fadhli FM,Alasmari A,Faqeih EA,Almontashiri NAM

    更新日期：2021-01-27 00:00:00