当前位置： SCI文献检索 > JOURNAL OF HUMAN GENETICS期刊下所有文献 > Genetic association study between the detected risk variants based upon type II diabetes GWAS and psychotic disorders in the Japanese population.

Genetic association study between the detected risk variants based upon type II diabetes GWAS and psychotic disorders in the Japanese population.

Abstract：

:Several epidemiological and genetic studies have suggested that the risk of type II diabetes (T2D) is likely to overlap with the susceptibility to psychotic disorders such as schizophrenia (SCZ) and bipolar disorder (BD). In this study, we aimed to examine the association of single-nucleotide polymorphisms (SNPs) detected in previous T2D genome-wide association studies (GWAS) with SCZ, BD and psychosis (SCZ plus BD). A total of 37 SNPs were selected from the literature. A two-stage analysis was conducted using a first set of screening samples (total N=3037) and a second set of replication samples (N=4950). None of the SNPs showed a significant association to the screening samples after correction for multiple testing. To avoid type II error, we genotyped the top three SNPs in BCL11A, HMG20A and HNF4A showing associations with any of the phenotypes (Puncorrected <0.01) using independent samples to replicate the nominal associations. However, we were unable to find any significant associations based on the screening results (Puncorrected>0.05). Our findings did not support the shared genetic risk between T2D and psychotic disorders in the Japanese population. However, further replication using a larger sample size is required.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Kajio Y,Kondo K,Saito T,Iwayama Y,Aleksic B,Yamada K,Toyota T,Hattori E,Ujike H,Inada T,Kunugi H,Kato T,Yoshikawa T,Ozaki N,Ikeda M,Iwata N

doi

10.1038/jhg.2013.116

subject

Has Abstract

pub_date

2014-01-01 00:00:00

pages

54-6

issue

1

eissn

1434-5161

issn

1435-232X

pii

jhg2013116

journal_volume

59

pub_type

杂志文章,meta分析

相关文献

JOURNAL OF HUMAN GENETICS文献大全
  • Human aryl hydrocarbon receptor nuclear translocator gene (ARNT) D/N511 polymorphism.

    abstract：:We found a novel A-->C change in codon 511 of the ARNT gene, which predicted the substitution of Asn (AAC) for Asp (GAC) at this position. Amplification using mismatched primers allowed the ARNT D/N511 polymorphism to be detected by digestion with endonuclease Tth111I. The frequency of the ARNT N511 allele was 0.019 i...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050018

    authors： Cao H,Hegele RA

    更新日期：2000-01-01 00:00:00

  • Genetic effects have a dominant role on poor responses to infant vaccination to hepatitis B virus.

    abstract：:The objective of this study was to investigate the overall contribution of genetic and environmental effects on poor response to hepatitis B virus (HBV) vaccination in Chinese infants. One-year-old healthy twins were recruited from child-care settings. Parental factors, neonates' condition at birth, postnatal infant f...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2013.18

    authors： Yan K,Cai W,Cao F,Sun H,Chen S,Xu R,Wei X,Shi X,Yan W

    更新日期：2013-05-01 00:00:00

  • EED-associated overgrowth in a second male patient.

    abstract：:Following our discovery that constitutional mutations in EED can cause overgrowth, we screened our cohort of patients with Weaver-like features for mutations in this gene. Here we describe a second patient with a different, rare and de novo mutation in EED. Phenotypic overlap with our first case of EED-associated over...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2016.51

    authors： Cohen AS,Gibson WT

    更新日期：2016-09-01 00:00:00

  • NDUFS6 related Leigh syndrome: a case report and review of the literature.

    abstract：:The genetic causes of Leigh syndrome are heterogeneous, with a poor genotype-phenotype correlation. To date, more than 50 nuclear genes cause nuclear gene-encoded Leigh syndrome. NDUFS6 encodes a 13 kiloDaltons subunit, which is part of the peripheral arm of complex I and is localized in the iron-sulfur fraction. Only...

    journal_title：Journal of human genetics

    pub_type： 杂志文章,评审

    doi：10.1038/s10038-019-0594-4

    authors： Rouzier C,Chaussenot A,Fragaki K,Serre V,Ait-El-Mkadem S,Richelme C,Paquis-Flucklinger V,Bannwarth S

    更新日期：2019-07-01 00:00:00

  • Isolation and localization of an IDDMK1,2-22-related human endogenous retroviral gene, and identification of a CA repeat marker at its locus.

    abstract：:We intended to confirm genetically the involvement of the IDDMK1,2-22 gene in the pathogenesis of insulin-dependent diabetes mellitus (IDDM). For this purpose, we isolated a human endogenous retrovirus gene, possibly corresponding to IDDMK1,2-22. The isolated gene showed 99.8% and 99.7% homologies in nucleotide sequen...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050173

    authors： Hasuike S,Miura K,Miyoshi O,Miyamoto T,Niikawa N,Jinno Y,Ishikawa M

    更新日期：1999-01-01 00:00:00

  • Positional cloning and comprehensive mutation analysis identified a novel KDM2B mutation in a Japanese family with minor malformations, intellectual disability, and schizophrenia.

    abstract：:The importance of epigenetic control in the development of the central nervous system has recently been attracting attention. Methylation patterns of lysine 4 and lysine 36 in histone H3 (H3K4 and H3K36) in the central nervous system are highly conserved among species. Numerous complications of body malformations and ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-020-00889-4

    authors： Yokotsuka-Ishida S,Nakamura M,Tomiyasu Y,Nagai M,Kato Y,Tomiyasu A,Umehara H,Hayashi T,Sasaki N,Ueno SI,Sano A

    更新日期：2021-01-06 00:00:00

  • Different contributions of ancient mitochondrial and Y-chromosomal lineages in 'Karretjie people' of the Great Karoo in South Africa.

    abstract：:The Karretjie people of the South African Great Karoo are itinerants who subsist by sheep shearing. Although officially classified 'Coloured', they are aware of their Khoe and San roots. To investigate the maternal and paternal ancestries of the Karretjie people we analyzed their mitochondrial and Y-chromosome DNA var...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2011.71

    authors： Schlebusch CM,de Jongh M,Soodyall H

    更新日期：2011-09-01 00:00:00

  • Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death.

    abstract：:Tandem mass screening has recently been started in Japan, but genetic screening has yet to be widely performed in neonates and many unexpected deaths are still being reported. We previously reported two cases of sudden infant death that may have been prevented had newborn screening been performed. In this study, we re...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2017.79

    authors： Oshima Y,Yamamoto T,Ishikawa T,Mishima H,Matsusue A,Umehara T,Murase T,Abe Y,Kubo SI,Yoshiura KI,Makita N,Ikematsu K

    更新日期：2017-11-01 00:00:00

  • Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).

    abstract：:Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal, recessively inherited disease caused by mutations in the MLC1 gene. Most of the previously published studies have been carried out in ethnic populations other than the Chinese. In this study, the analysis of clinical features and MLC1 mu...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.146

    authors： Wang J,Shang J,Wu Y,Gu Q,Xiong H,Ding C,Wang L,Gao Z,Wu X,Jiang Y

    更新日期：2011-02-01 00:00:00

  • Haplotype analysis at the alcohol dehydrogenase gene region in New Zealand Māori.

    abstract：:Alcohol response is a genetically influenced trait, and there is significant variation in the patterns of alcohol consumption between Māori and Caucasians in New Zealand. Previous studies have found that a variant of the alcohol dehydrogenase (ADH) gene (ADH1B*47His) is associated with protection against alcohol depen...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-006-0094-1

    authors： Hall DA,Chambers GK,Lea RA

    更新日期：2007-01-01 00:00:00

  • A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family.

    abstract：:X-linked inheritance is very rare and is estimated to account for only 1-5% of all nonsyndromic hearing loss cases. We found a multiplex family from China segregating with X-linked nonsyndromic hearing loss. After exclusive analysis of 10 common variations of three hearing loss-related genes, GJB2, mtDNA12srRNA and SL...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-018-0443-x

    authors： Deng Y,Niu Z,Fan L,Ling J,Chen H,Cai X,Mei L,He C,Zhang X,Wen J,Li M,Li W,Li T,Sang S,Liu Y,Feng Y

    更新日期：2018-06-01 00:00:00

  • Novel locus for fibrinogen in 3' region of LEPR gene in island population of Vis (Croatia).

    abstract：:Leptin, a possible mediator between energy homeostasis, inflammation and cardiovascular disease (CVD), acts via leptin receptors. We investigated association of single-nucleotide polymorphisms (SNPs) and haplotypes of the leptin receptor gene (LEPR) with several CVD risk factors: body mass index, waist circumference (...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2014.82

    authors： Tomas Ž,Petranović MZ,Škarić-Jurić T,Barešić A,Salihović MP,Narančić NS

    更新日期：2014-11-01 00:00:00

  • Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population.

    abstract：:Autosomal dominant cerebellar ataxia (ADCA) is a genetically heterogeneous group of neurodegenerative disorders with overlapping clinical presentation. Recently, a single nucleotide substitution in the 5'-untranslated region (UTR) of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 has been shown to be associate...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-006-0372-y

    authors： Wieczorek S,Arning L,Alheite I,Epplen JT

    更新日期：2006-01-01 00:00:00

  • A common variant in the CDKN2B gene on chromosome 9p21 protects against coronary artery disease in Americans of African ancestry.

    abstract：:A 58 kb region on chromosome 9p21.3 has consistently shown strong association with coronary artery disease (CAD) in multiple genome-wide association studies in populations of European and East Asian ancestry. In this study, we sought to further characterize the role of genetic variants in 9p21.3 in African American in...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.171

    authors： Kral BG,Mathias RA,Suktitipat B,Ruczinski I,Vaidya D,Yanek LR,Quyyumi AA,Patel RS,Zafari AM,Vaccarino V,Hauser ER,Kraus WE,Becker LC,Becker DM

    更新日期：2011-03-01 00:00:00

  • Comparative analysis of HLA restriction and cytokine production in hepatitis B surface antigen-specific T cells from low- and high-antibody responders in vaccinated humans.

    abstract：:It is well known that individuals with low, or lack of, antibody production in response to hepatitis B surface antigen (HBsAg) exist in the human population. We have previously reported that HLA class I and class II genes are both involved in antibody production to HBsAg, and that specific alleles of HLA are associate...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380170089

    authors： Wataya M,Sano T,Kamikawaji N,Tana T,Yamamoto K,Sasazuki T

    更新日期：2001-01-01 00:00:00

  • Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.

    abstract：:Multiple pterygium syndrome (MPS) is an autosomal recessively inherited condition that becomes evident before birth, with pterygium at multiple joints and akinesia. There are two forms of this syndrome that are differentiated by clinical severity: the milder form, Escobar type (OMIM#265000), and the more severe form, ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2015.2

    authors： Seo J,Choi IH,Lee JS,Yoo Y,Kim NK,Choi M,Ko JM,Shin YB

    更新日期：2015-04-01 00:00:00

  • Unique origin of Andaman Islanders: insight from autosomal loci.

    abstract：:Our mtDNA and Y chromosome studies lead to the conclusion that the Andamanese "Negrito" mtDNA lineages have survived in the Andaman Islands in complete genetic isolation from other South and Southeast Asian populations since the initial settlement of the region by the out-of-Africa migration. In order to obtain a robu...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-006-0026-0

    authors： Thangaraj K,Chaubey G,Reddy AG,Singh VK,Singh L

    更新日期：2006-01-01 00:00:00

  • Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population.

    abstract：:Although many studies have been performed to identify mutations in Korean patients with various autosomal-recessive Mendelian disorders (AR-MDs), little is known about the carrier frequencies of AR-MDs in the Korean population. Twenty common mutations from six AR-MDs, including Wilson disease (WD), non-syndromic heari...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2011.144

    authors： Song MJ,Lee ST,Lee MK,Ji Y,Kim JW,Ki CS

    更新日期：2012-02-01 00:00:00

  • Nucleotide polymorphism of the TNF gene cluster in six Chinese populations.

    abstract：:DNA variants in a 31-kb region of the human major histocompatibility complex, encompassing the tumor necrosis factor (TNF) gene cluster, were surveyed by direct sequencing of 283 unrelated individuals from six Chinese populations. A total of 273 polymorphic sites were identified, with nearly half of them novel. We obs...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.33

    authors： Zhang Y,Zhang F,Lin H,Shi L,Wang P,Shi L,Gong Q,Li X,Wang M,Hu S,Chu J,Wang DM

    更新日期：2010-06-01 00:00:00

  • High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis.

    abstract：:Southeast Asian ovalocytosis (SAO) is a red blood cell abnormality common in malaria-endemic regions and caused by a 27 nt deletion of the band 3 protein gene. Since band 3 protein, also known as anion exchanger 1, is expressed in renal distal tubules, the incidence of SAO was examined in distal renal tubular acidosis...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-003-0095-2

    authors： Yusoff NM,Van Rostenberghe H,Shirakawa T,Nishiyama K,Amin N,Darus Z,Zainal N,Isa N,Nozu H,Matsuo M

    更新日期：2003-01-01 00:00:00

  • The combination of ApoCIII, hepatic lipase and hormono sensitive lipase gene polymorphisms suggests an association with susceptibility to gestational hypertension.

    abstract：:Dyslipidemia and insulin resistance contribute to the endothelial cell dysfunction in hypertensive disorders of pregnancy (HDP) and increase the long-term risk of cardiovascular disease (CVD). The genes linking susceptibility to gestational hypertension (GH) and/or preeclampsia (PE) to the long-term risk of CVD are st...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-006-0106-1

    authors： Bernard N,Girouard J,Forest JC,Giguère Y

    更新日期：2007-01-01 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

  • Linkage and association analyses of the osteoprotegerin gene locus with human osteoporosis.

    abstract：:Osteoprotegerin (OPG), a secreted glycoprotein and a member of the tumor necrosis factor receptor superfamily, is considered to play an important role in the regulation of bone resorption by modifying osteoclast differentiation. Overexpression of OPG in mice has been reported to result in osteopetrosis, whereas target...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380200058

    authors： Ohmori H,Makita Y,Funamizu M,Hirooka K,Hosoi T,Orimo H,Suzuki T,Ikari K,Nakajima T,Inoue I,Hata A

    更新日期：2002-01-01 00:00:00

  • Association of diffuse panbronchiolitis with microsatellite polymorphism of the human interleukin 8 (IL-8) gene.

    abstract：:Diffuse panbronchiolitis (DPB) is a distinctive chronic inflammatory lung disease predominantly found in Asian populations. Although its etiology is unknown, DPB is considered to be a multifactorial disease of whose susceptibility is determined by genetic predisposition unique to Asians. We and others have previously ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050135

    authors： Emi M,Keicho N,Tokunaga K,Katsumata H,Souma S,Nakata K,Taguchi Y,Ohishi N,Azuma A,Kudoh S

    更新日期：1999-01-01 00:00:00

  • Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH).

    abstract：:As the mouse nasal embryonic LHRH factor gene (Nelf) encodes a guidance molecule for the migration of the olfactory axon and gonadotropin-releasing hormone neurons, its human homolog, NELF, is a candidate gene for Kallmann syndrome, a disease of idiopathic hypogonadotropic hypogonadism (IHH) with anosmia or hyposmia. ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-004-0137-4

    authors： Miura K,Acierno JS Jr,Seminara SB

    更新日期：2004-01-01 00:00:00

  • Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria.

    abstract：:Erythropoietic protoporphyria (EPP) is an inherited disorder, caused by a partial deficiency of ferrochelatase (FECH), the last enzyme of the heme biosynthetic pathway. The deficiency results in accumulation of protoporphyrin, primarily in erythroid cells, and the major clinical feature is cutaneous photosensitivity. ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380300009

    authors： Wiman A,Floderus Y,Harper P

    更新日期：2003-01-01 00:00:00

  • Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification.

    abstract：:Local genomic architecture, such as segmental duplications (SDs), can induce copy number variations (CNVs) hotspots in the human genome, many of which manifest as genomic disorders. Significant technological advances have been achieved for genome-wide CNV investigations, but these costly methods are not suitable for g...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2012.66

    authors： Du R,Lu C,Jiang Z,Li S,Ma R,An H,Xu M,An Y,Xia Y,Jin L,Wang X,Zhang F

    更新日期：2012-08-01 00:00:00

  • Joint analysis of bivariate competing risks survival times and genetic markers data.

    abstract：:Bivariate survival models with discretely distributed frailty based on the major gene concept and applied to the data on related individuals such as twins and sibs can be used to estimate the underlying hazard, the relative risk and the frequency of the longevity allele. To determine the position of the longevity gene...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2013.80

    authors： Begun A

    更新日期：2013-10-01 00:00:00

  • Strategies for genome-wide association studies: optimization of study designs by the stepwise focusing method.

    abstract：:Recently, the use of genome-wide linkage disequilibrium (LD) analysis to localize traits has attracted much attention because of the introduction of high-throughput genotyping systems. However, a limitation of such studies is often the total cost of genotyping in addition to sample size. Therefore, it is important to ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380200050

    authors： Saito A,Kamatani N

    更新日期：2002-01-01 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