当前位置： SCI文献检索 > HUMAN MOLECULAR GENETICS期刊下所有文献 > De novo CNVs in bipolar affective disorder and schizophrenia.

De novo CNVs in bipolar affective disorder and schizophrenia.

Abstract：

:An increased rate of de novo copy number variants (CNVs) has been found in schizophrenia (SZ), autism and developmental delay. An increased rate has also been reported in bipolar affective disorder (BD). Here, in a larger BD sample, we aimed to replicate these findings and compare de novo CNVs between SZ and BD. We used Illumina microarrays to genotype 368 BD probands, 76 SZ probands and all their parents. Copy number variants were called by PennCNV and filtered for frequency (<1%) and size (>10 kb). Putative de novo CNVs were validated with the z-score algorithm, manual inspection of log R ratios (LRR) and qPCR probes. We found 15 de novo CNVs in BD (4.1% rate) and 6 in SZ (7.9% rate). Combining results with previous studies and using a cut-off of >100 kb, the rate of de novo CNVs in BD was intermediate between controls and SZ: 1.5% in controls, 2.2% in BD and 4.3% in SZ. Only the differences between SZ and BD and SZ and controls were significant. The median size of de novo CNVs in BD (448 kb) was also intermediate between SZ (613 kb) and controls (338 kb), but only the comparison between SZ and controls was significant. Only one de novo CNV in BD was in a confirmed SZ locus (16p11.2). Sporadic or early onset cases were not more likely to have de novo CNVs. We conclude that de novo CNVs play a smaller role in BD compared with SZ. Patients with a positive family history can also harbour de novo mutations.

journal_name

Hum Mol Genet

journal_title

Human molecular genetics

authors

Georgieva L,Rees E,Moran JL,Chambert KD,Milanova V,Craddock N,Purcell S,Sklar P,McCarroll S,Holmans P,O'Donovan MC,Owen MJ,Kirov G

doi

10.1093/hmg/ddu379

subject

Has Abstract

pub_date

2014-12-15 00:00:00

pages

6677-83

issue

24

eissn

0964-6906

issn

1460-2083

pii

ddu379

journal_volume

23

pub_type

杂志文章

相关文献

HUMAN MOLECULAR GENETICS文献大全
  • Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.

    abstract：:Familial hypercholesterolaemia (FH) is characterized by increased circulating low-density lipoprotein (LDL) cholesterol leading to premature atherosclerosis and coronary heart disease. Although FH is usually caused by mutations in LDLR, mutations in APOB and PCSK9 also cause FH but only a few mutations have been repor...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddt573

    authors： Alves AC,Etxebarria A,Soutar AK,Martin C,Bourbon M

    更新日期：2014-04-01 00:00:00

  • Evaluating the effects of CELF1 deficiency in a mouse model of RNA toxicity.

    abstract：:Myotonic dystrophy type 1 (DM1), the most common form of adult-onset muscular dystrophy, is caused by an expanded (CTG)n repeat in the 3' untranslated region of the DM protein kinase (DMPK) gene. The toxic RNA transcripts produced from the mutant allele alter the function of RNA-binding proteins leading to the functio...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddt419

    authors： Kim YK,Mandal M,Yadava RS,Paillard L,Mahadevan MS

    更新日期：2014-01-15 00:00:00

  • Effect of ATM, CHEK2 and ERBB2 TAGSNPs and haplotypes on endometrial cancer risk.

    abstract：:Family history of endometrial cancer increases the risk of developing the disease, but it is still largely unknown which germ-line genetic factors are involved in the aetiology of endometrial cancer. In a Swedish population-based case-control study including 705 cases and 1565 controls, we examined common variation in...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddl451

    authors： Einarsdóttir K,Humphreys K,Bonnard C,Li Y,Li Y,Chia KS,Liu ET,Hall P,Liu J,Wedrén S

    更新日期：2007-01-15 00:00:00

  • Sarcoidosis HLA class II genotyping distinguishes differences of clinical phenotype across ethnic groups.

    abstract：:The HLA class II (DRB1 and DQB1) associations with sarcoidosis have been studied by several groups but often without consistent results. In this paper, we consider the hypothesis that observed inconsistencies relate to distinct, genetically encoded disease phenotypes which differ in prevalence between centres. We ther...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddq325

    authors： Sato H,Woodhead FA,Ahmad T,Grutters JC,Spagnolo P,van den Bosch JM,Maier LA,Newman LS,Nagai S,Izumi T,Wells AU,du Bois RM,Welsh KI

    更新日期：2010-10-15 00:00:00

  • Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses.

    abstract：:In order to characterize the dynamics of CTG repeat instability in somatic and germline tissue from myotonic dystrophy (DM) males we have used small pool polymerase chain reaction (PCR) in a detailed quantitative analysis of repeat length variation. We demonstrate that the heterogeneous smear of CTG repeats observed i...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/4.1.1

    authors： Monckton DG,Wong LJ,Ashizawa T,Caskey CT

    更新日期：1995-01-01 00:00:00

  • The telomere lengthening mechanism in telomerase-negative immortal human cells does not involve the telomerase RNA subunit.

    abstract：:According to the telomere hypothesis of senescence, the progressive shortening of telomeres that occurs upon division of normal somatic cells eventually leads to cellular senescence. The immortalisation of human cells is associated with the acquisition of a telomere maintenance mechanism which is usually dependent upo...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/6.6.921

    authors： Bryan TM,Marusic L,Bacchetti S,Namba M,Reddel RR

    更新日期：1997-06-01 00:00:00

  • Becker muscular dystrophy severity is linked to the structure of dystrophin.

    abstract：:In-frame exon deletions of the Duchenne muscular dystrophy (DMD) gene produce internally truncated proteins that typically lead to Becker muscular dystrophy (BMD), a milder allelic disorder of DMD. We hypothesized that differences in the structure of mutant dystrophin may be responsible for the clinical heterogeneity ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddu537

    authors： Nicolas A,Raguénès-Nicol C,Ben Yaou R,Ameziane-Le Hir S,Chéron A,Vié V,Claustres M,Leturcq F,Delalande O,Hubert JF,Tuffery-Giraud S,Giudice E,Le Rumeur E,French Network of Clinical Reference Centres for Neuromuscular Diseases (

    更新日期：2015-03-01 00:00:00

  • Cell-specific localization of CFTR mRNA shows developmentally regulated expression in human fetal tissues.

    abstract：:An improved understanding of the expression of the cystic fibrosis gene (CFTR) will assist our approach to preventing the organ damage caused by cystic fibrosis (CF). We have studied the expression of CFTR in human fetal tissues at different gestational ages using in situ hybridization to detect CFTR mRNA. CFTR was pr...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/2.3.219

    authors： Tizzano EF,Chitayat D,Buchwald M

    更新日期：1993-03-01 00:00:00

  • Chylomicronemia mutations yield new insights into interactions between lipoprotein lipase and GPIHBP1.

    abstract：:Lipoprotein lipase (LPL) is a 448-amino-acid head-to-tail dimeric enzyme that hydrolyzes triglycerides within capillaries. LPL is secreted by parenchymal cells into the interstitial spaces; it then binds to GPIHBP1 (glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1) on the basolateral fa...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/dds127

    authors： Gin P,Goulbourne CN,Adeyo O,Beigneux AP,Davies BS,Tat S,Voss CV,Bensadoun A,Fong LG,Young SG

    更新日期：2012-07-01 00:00:00

  • Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.

    abstract：:Congenital nephrotic syndrome of the Finnish type (CNF or NPHS1) is an autosomal recessive kidney disorder resulting in severe proteinurea and renal dysfunction. Although the disease occurs predominantly in the Finnish population, many cases in other populations have also been reported. The disease gene (NPHS1) encode...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/10.23.2637

    authors： Liu L,Doné SC,Khoshnoodi J,Bertorello A,Wartiovaara J,Berggren PO,Tryggvason K

    更新日期：2001-11-01 00:00:00

  • Monoamine oxidase A knockout mice exhibit impaired nicotine preference but normal responses to novel stimuli.

    abstract：:Nicotine is thought to act on brain monoamine systems that normally mediate diverse motivational behaviors. How monoamine-related genes contribute to behavioral traits (e.g. responses to novel stimuli) comorbid with the susceptibility to nicotine addiction is still poorly understood. We examined the impact of constitu...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddl206

    authors： Agatsuma S,Lee M,Zhu H,Chen K,Shih JC,Seif I,Hiroi N

    更新日期：2006-09-15 00:00:00

  • Progress in defining the molecular basis of type 2 diabetes mellitus through susceptibility-gene identification.

    abstract：:The rapid increase in the prevalence of type 2 diabetes (T2D) represents a major challenge for health care delivery worldwide. Identification of genes influencing individual susceptibility to disease offers a route to better understanding of the molecular mechanisms underlying pathogenesis, a necessary prerequisite fo...

    journal_title：Human molecular genetics

    pub_type： 杂志文章,评审

    doi：10.1093/hmg/ddh057

    authors： McCarthy MI

    更新日期：2004-04-01 00:00:00

  • Defining haplotype blocks and tag single-nucleotide polymorphisms in the human genome.

    abstract：:Recent studies suggest that the genome is organized into blocks of haplotypes, and efforts to create a genome-wide haplotype map of single-nucleotide polymorphisms (SNPs) are already underway. Haplotype blocks are defined algorithmically and to date several algorithms have been proposed. However, little is known about...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddh035

    authors： Schulze TG,Zhang K,Chen YS,Akula N,Sun F,McMahon FJ

    更新日期：2004-02-01 00:00:00

  • Depletion of p62 reduces nuclear inclusions and paradoxically ameliorates disease phenotypes in Huntington's model mice.

    abstract：:Huntington's disease (HD) is a dominantly inherited genetic disease caused by mutant huntingtin (htt) protein with expanded polyglutamine (polyQ) tracts. A neuropathological hallmark of HD is the presence of neuronal inclusions of mutant htt. p62 is an important regulatory protein in selective autophagy, a process by ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddu522

    authors： Kurosawa M,Matsumoto G,Kino Y,Okuno M,Kurosawa-Yamada M,Washizu C,Taniguchi H,Nakaso K,Yanagawa T,Warabi E,Shimogori T,Sakurai T,Hattori N,Nukina N

    更新日期：2015-02-15 00:00:00

  • Isolation, characterization and mutation analysis of PEX13-defective Chinese hamster ovary cell mutants.

    abstract：:We isolated peroxisome biogenesis mutants ZP128 and ZP150 from rat PEX2 -transformed Chinese hamster ovary (CHO) cells, by the 9-(1'-pyrene)nonanol/ultraviolet method. The mutants lacked morphologically recognizable peroxisomes and showed a typical peroxisome assembly-defective phenotype such as a high sensitivity to ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/8.9.1673

    authors： Toyama R,Mukai S,Itagaki A,Tamura S,Shimozawa N,Suzuki Y,Kondo N,Wanders RJ,Fujiki Y

    更新日期：1999-09-01 00:00:00

  • Disruption of a novel ectodermal neural cortex 1 antisense gene, ENC-1AS and identification of ENC-1 overexpression in hairy cell leukemia.

    abstract：:Karyotypical alteration of chromosome 5 and in particular band 5q13 is a frequent finding in hairy cell leukemia (HCL). We have previously identified a number of candidate genes localized in close proximity to a constitutional inv(5)(p13.1q13.3) breakpoint in one HCL patient. These included beta-hexosaminodase HEXB, f...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddh315

    authors： Hammarsund M,Lerner M,Zhu C,Merup M,Jansson M,Gahrton G,Kluin-Nelemans H,Einhorn S,Grandér D,Sangfelt O,Corcoran M

    更新日期：2004-12-01 00:00:00

  • Common and different genetic background for rheumatoid arthritis and coeliac disease.

    abstract：:Recent genome-wide association studies (GWAS) have revealed genetic risk factors in autoimmune and inflammatory disorders. Several of the associated genes and underlying pathways are shared by various autoimmune diseases. Rheumatoid arthritis (RA) and coeliac disease (CD) are two autoimmune disorders which have common...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddp365

    authors： Coenen MJ,Trynka G,Heskamp S,Franke B,van Diemen CC,Smolonska J,van Leeuwen M,Brouwer E,Boezen MH,Postma DS,Platteel M,Zanen P,Lammers JW,Groen HJ,Mali WP,Mulder CJ,Tack GJ,Verbeek WH,Wolters VM,Houwen RH,Mearin M

    更新日期：2009-11-01 00:00:00

  • Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities.

    abstract：:Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes implicated in several dominant and recessive disease phenotypes. The canonical function of ARSs is to couple an amino acid to a cognate transfer RNA (tRNA). We identified three novel disease-associated missense mutations in the alanyl-tRNA synthetase...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddy290

    authors： Weterman MAJ,Kuo M,Kenter SB,Gordillo S,Karjosukarso DW,Takase R,Bronk M,Oprescu S,van Ruissen F,Witteveen RJW,Bienfait HME,Breuning M,Verhamme C,Hou YM,de Visser M,Antonellis A,Baas F

    更新日期：2018-12-01 00:00:00

  • The biological impact of blood pressure-associated genetic variants in the natriuretic peptide receptor C gene on human vascular smooth muscle.

    abstract：:Elevated blood pressure (BP) is a major global risk factor for cardiovascular disease. Genome-wide association studies have identified several genetic variants at the NPR3 locus associated with BP, but the functional impact of these variants remains to be determined. Here we confirmed, by a genome-wide association stu...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddx375

    authors： Ren M,Ng FL,Warren HR,Witkowska K,Baron M,Jia Z,Cabrera C,Zhang R,Mifsud B,Munroe PB,Xiao Q,Townsend-Nicholson A,Hobbs AJ,Ye S,Caulfield MJ

    更新日期：2018-01-01 00:00:00

  • NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets.

    abstract：:NSDHL, for NAD(P)H steroid dehydrogenase-like, encodes a sterol dehydrogenase or decarboxylase involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis. Mutations in this gene are associated with human CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and li...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddg321

    authors： Caldas H,Herman GE

    更新日期：2003-11-15 00:00:00

  • Effects of flanking sequences and cellular context on subcellular behavior and pathology of mutant HTT.

    abstract：:Huntington's disease (HD) is caused by an expansion of a poly glutamine (polyQ) stretch in the huntingtin protein (HTT) that is necessary to cause pathology and formation of HTT aggregates. Here we ask whether expanded polyQ is sufficient to cause pathology and aggregate formation. By addressing the sufficiency questi...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddaa001

    authors： Chongtham A,Bornemann DJ,Barbaro BA,Lukacsovich T,Agrawal N,Syed A,Worthge S,Purcell J,Burke J,Chin TM,Marsh JL

    更新日期：2020-03-13 00:00:00

  • Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy.

    abstract：:The striated muscle sarcomeres are highly organized structures composed of actin (thin) and myosin (thick) filaments that slide past each other during contraction. The integrity of sarcomeres is controlled by a set of structural proteins, among which are titin, a giant molecule that contains several immunoglobulin (Ig...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/8.7.1329

    authors： Salmikangas P,Mykkänen OM,Grönholm M,Heiska L,Kere J,Carpén O

    更新日期：1999-07-01 00:00:00

  • Specific correction of a splice defect in brain by nutritional supplementation.

    abstract：:Recent studies emphasize the importance of mRNA splicing in human genetic disease, as 20-30% of all disease-causing mutations are predicted to result in mRNA splicing defects. The plasticity of the mRNA splicing reaction has made these mutations attractive candidates for the development of therapeutics. Familial dysau...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddr333

    authors： Shetty RS,Gallagher CS,Chen YT,Hims MM,Mull J,Leyne M,Pickel J,Kwok D,Slaugenhaupt SA

    更新日期：2011-11-01 00:00:00

  • Scrutinizing ciliopathies by unraveling ciliary interaction networks.

    abstract：:Research of cilia has gained significant momentum in the last 15 years, as an increasing number of human genetic diseases were found to be caused by disruption of a protein that localizes to cilia. These ciliopathies are as diverse as the functions of the associated proteins, covering a spectrum of overlapping phenoty...

    journal_title：Human molecular genetics

    pub_type： 杂志文章,评审

    doi：10.1093/hmg/ddr354

    authors： van Reeuwijk J,Arts HH,Roepman R

    更新日期：2011-10-15 00:00:00

  • Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia.

    abstract：:The defective gene responsible for the recessively inherited immunodeficiency X-linked agammaglobulinemia (XLA) has been shown to encode a cytoplasmic protein tyrosine kinase of the Src family designated Btk (Bruton's tyrosine kinase). To facilitate the search for germline mutations of the Btk gene, we have characteri...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/3.10.1743

    authors： Hagemann TL,Chen Y,Rosen FS,Kwan SP

    更新日期：1994-10-01 00:00:00

  • LRRK2 functions as a Wnt signaling scaffold, bridging cytosolic proteins and membrane-localized LRP6.

    abstract：:Mutations in PARK8, encoding leucine-rich repeat kinase 2 (LRRK2), are a frequent cause of Parkinson's disease (PD). Nonetheless, the physiological role of LRRK2 remains unclear. Here, we demonstrate that LRRK2 participates in canonical Wnt signaling as a scaffold. LRRK2 interacts with key Wnt signaling proteins of th...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/dds342

    authors： Berwick DC,Harvey K

    更新日期：2012-11-15 00:00:00

  • Relapsing diabetes can result from moderately activating mutations in KCNJ11.

    abstract：:Neonatal diabetes can either remit and hence be transient or else may be permanent. These two phenotypes were considered to be genetically distinct. Abnormalities of 6q24 are the commonest cause of transient neonatal diabetes (TNDM). Mutations in KCNJ11, which encodes Kir6.2, the pore-forming subunit of the ATP-sensit...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddi086

    authors： Gloyn AL,Reimann F,Girard C,Edghill EL,Proks P,Pearson ER,Temple IK,Mackay DJ,Shield JP,Freedenberg D,Noyes K,Ellard S,Ashcroft FM,Gribble FM,Hattersley AT

    更新日期：2005-04-01 00:00:00

  • Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy.

    abstract：:Lafora progressive myoclonus epilepsy, caused by defective laforin or malin, insidiously present in normal teenagers with cognitive decline, followed by rapidly intractable epilepsy, dementia and death. Pathology reveals neurodegeneration with neurofibrillary tangle formation and Lafora bodies (LBs). LBs are deposits ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddi306

    authors： Lohi H,Ianzano L,Zhao XC,Chan EM,Turnbull J,Scherer SW,Ackerley CA,Minassian BA

    更新日期：2005-09-15 00:00:00

  • Lipid-enriched diet rescues lethality and slows down progression in a murine model of VCP-associated disease.

    abstract：:Valosin-containing protein (VCP)-associated disease caused by mutations in the VCP gene includes combinations of a phenotypically heterogeneous group of disorders such as hereditary inclusion body myopathy, Paget's disease of bone, frontotemporal dementia and amyotrophic lateral sclerosis. Currently, there are no effe...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddt523

    authors： Llewellyn KJ,Nalbandian A,Jung KM,Nguyen C,Avanesian A,Mozaffar T,Piomelli D,Kimonis VE

    更新日期：2014-03-01 00:00:00

  • Mitochondrial DNA polymerase-gamma and human disease.

    abstract：:The maintenance of mitochondrial DNA (mtDNA) is critically dependent upon polymerase-gamma (pol-gamma), encoded by the nuclear gene POLG. Over the last 5 years, it has become clear that mutations of POLG are a major cause of human disease. Secondary mtDNA defects characterize these disorders, with mtDNA depletion, mul...

    journal_title：Human molecular genetics

    pub_type： 杂志文章,评审

    doi：10.1093/hmg/ddl233

    authors： Hudson G,Chinnery PF

    更新日期：2006-10-15 00:00:00