A variant at 9q34.11 is associated with HLA-DQB1*06:02 negative essential hypersomnia.

Abstract:

:Essential hypersomnia (EHS) is a lifelong disorder characterized by excessive daytime sleepiness without cataplexy. EHS is associated with human leukocyte antigen (HLA)-DQB1*06:02, similar to narcolepsy with cataplexy (narcolepsy). Previous studies suggest that DQB1*06:02-positive and -negative EHS are different in terms of their clinical features and follow different pathological pathways. DQB1*06:02-positive EHS and narcolepsy share the same susceptibility genes. In the present study, we report a genome-wide association study with replication for DQB1*06:02-negative EHS (408 patients and 2247 healthy controls, all Japanese). One single-nucleotide polymorphism, rs10988217, which is located 15-kb upstream of carnitine O-acetyltransferase (CRAT), was significantly associated with DQB1*06:02-negative EHS (P = 7.5 × 10-9, odds ratio = 2.63). The risk allele of the disease-associated SNP was correlated with higher expression levels of CRAT in various tissues and cell types, including brain tissue. In addition, the risk allele was associated with levels of succinylcarnitine (P = 1.4 × 10-18) in human blood. The leading SNP in this region was the same in associations with both DQB1*06:02-negative EHS and succinylcarnitine levels. The results suggest that DQB1*06:02-negative EHS may be associated with an underlying dysfunction in energy metabolic pathways.

journal_name

J Hum Genet

authors

Miyagawa T,Khor SS,Toyoda H,Kanbayashi T,Imanishi A,Sagawa Y,Kotorii N,Kotorii T,Ariyoshi Y,Hashizume Y,Ogi K,Hiejima H,Kamei Y,Hida A,Miyamoto M,Ikegami A,Wada Y,Takami M,Higashiyama Y,Miyake R,Kondo H,Fujimura

doi

10.1038/s10038-018-0518-8

subject

Has Abstract

pub_date

2018-12-01 00:00:00

pages

1259-1267

issue

12

eissn

1434-5161

issn

1435-232X

pii

10.1038/s10038-018-0518-8

journal_volume

63

pub_type

临床试验,杂志文章,多中心研究
  • Long-read sequencing for rare human genetic diseases.

    abstract::During the past decade, the search for pathogenic mutations in rare human genetic diseases has involved huge efforts to sequence coding regions, or the entire genome, using massively parallel short-read sequencers. However, the approximate current diagnostic rate is <50% using these approaches, and there remain many r...

    journal_title:Journal of human genetics

    pub_type: 杂志文章,评审

    doi:10.1038/s10038-019-0671-8

    authors: Mitsuhashi S,Matsumoto N

    更新日期:2020-01-01 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

  • The ADD1 G460W polymorphism is not associated with variation in blood pressure in Canadian Oji-Cree.

    abstract::Since adducin modulates cellular sodium retention, its follows that ADD1, which encodes the alpha-subunit of adducin, is an attractive candidate gene for blood pressure variation. Association studies examining the relationship between polymorphism at ADD1 codon 460 (G460W) and both hypertension and blood pressure, whi...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s100380050148

    authors: Busch CP,Harris SB,Hanley AJ,Zinman B,Hegele RA

    更新日期:1999-01-01 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

  • The SCARB1 gene is associated with lipid response to dietary and pharmacological interventions.

    abstract::The scavenger receptor class B type 1 (SCARB1) gene is a key component in the reverse cholesterol transport pathway and thus plays an important role in lipid metabolism. Studies suggest that the SCARB1 gene may contribute to variation in plasma lipid levels at fasting; however, the results have been inconsistent, and ...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s10038-008-0302-2

    authors: Liu Y,Ordovas JM,Gao G,Province M,Straka RJ,Tsai MY,Lai CQ,Zhang K,Borecki I,Hixson JE,Allison DB,Arnett DK

    更新日期:2008-01-01 00:00:00

  • New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome.

    abstract::We used magnetic resonance imaging (MRI) to examine the brain of a typical Coffin-Lowry syndrome (CLS) patient. There were many small perivascular focal areas of hypointensity in the white matter on T1-weighted images, similar to those found in mucopolysaccharidosis or perivascular leukomalacia. However, these changes...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s100380050038

    authors: Kondoh T,Matsumoto T,Ochi M,Sukegawa K,Tsuji Y

    更新日期:1998-01-01 00:00:00

  • The medaka fish Tol2 transposable element can undergo excision in human and mouse cells.

    abstract::Tol2 is an active DNA-based transposable element identified in the medaka fish, Oryzias latipes. Originating from a vertebrate and belonging to the hAT ( hobo/ Activator/ Tam3) transposable element family, featuring a wide distribution among organisms, Tol2 would be expected to be active if introduced into mammals. We...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s10038-003-0016-4

    authors: Koga A,Iida A,Kamiya M,Hayashi R,Hori H,Ishikawa Y,Tachibana A

    更新日期:2003-01-01 00:00:00

  • High prevalence of an anti-hypertriglyceridemic variant of the MLXIPL gene in Central Asia.

    abstract::MLXIPL is a transcription factor integral to the regulation of glycolysis and lipogenesis in the liver. Common variants of the MLXIPL gene (MLXIPL) are known to influence plasma triglyceride levels in people of European descent. As MLXIPL has a key role in energy storage, genetic variations of the MLXIPL may be releva...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2011.109

    authors: Nakayama K,Yanagisawa Y,Ogawa A,Ishizuka Y,Munkhtulga L,Charupoonphol P,Supannnatas S,Kuartei S,Chimedregzen U,Koda Y,Ishida T,Kagawa Y,Iwamoto S

    更新日期:2011-12-01 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

  • Treatment of two mitochondrial disease patients with a combination of febuxostat and inosine that enhances cellular ATP.

    abstract::Since mitochondria are energy-generating micro-organisms, most of the disorders in patients with mitochondrial diseases (mt-disease) are considered secondary to defects in ATP synthesis, although some other factors such as reactive oxygen species may be involved. A simultaneous oral administration of febuxostat and in...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/s10038-018-0558-0

    authors: Kamatani N,Kushiyama A,Toyo-Oka L,Toyo-Oka T

    更新日期:2019-04-01 00:00:00

  • A genetic analysis of serotonergic biosynthetic and metabolic enzymes in migraine using a DNA pooling approach.

    abstract::Migraine is a common debilitating primary headache disorder with significant mental, physical and social health implications. The brain neurotransmitter 5-hydroxytryptamine (5-HT; serotonin) is involved in nociceptive pathways and has been implicated in the pathophysiology of migraine. With few genetic studies investi...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s10038-005-0301-5

    authors: Johnson MP,Griffiths LR

    更新日期:2005-01-01 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

  • A systematic analysis highlights multiple long non-coding RNAs associated with cardiometabolic disorders.

    abstract::Genome-wide association studies (GWAS) have identified many susceptibility loci for cardiometabolic disorders. Most of the associated variants reside in non-coding regions of the genome including long non-coding RNAs (lncRNAs), which are thought to play critical roles in diverse biological processes. Here, we leverage...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/s10038-017-0403-x

    authors: Ghanbari M,Peters MJ,de Vries PS,Boer CG,van Rooij JGJ,Lee YC,Kumar V,Uitterlinden AG,Ikram MA,Wijmenga C,Ordovas JM,Smith CE,van Meurs JBJ,Erkeland SJ,Franco OH,Dehghan A

    更新日期:2018-04-01 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

  • Genetic diversity of disease-associated loci in Turkish population.

    abstract::Many consortia and international projects have investigated the human genetic variation of a large number of ethno-geographic groups. However, populations with peculiar genetic features, such as the Turkish population, are still absent in publically available datasets. To explore the genetic predisposition to health-r...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2015.8

    authors: Karaca S,Cesuroglu T,Karaca M,Erge S,Polimanti R

    更新日期:2015-04-01 00:00:00

  • MicroRNA-141 confers resistance to cisplatin-induced apoptosis by targeting YAP1 in human esophageal squamous cell carcinoma.

    abstract::MicroRNAs (miRNAs) are endogenous non-coding RNAs that function as negative regulators of gene expression. Alterations in miRNA expression have been shown to affect tumor growth and response to chemotherapy. In this study, we explored the possible role of miRNAs in cisplatin resistance in esophageal squamous cell carc...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2011.1

    authors: Imanaka Y,Tsuchiya S,Sato F,Shimada Y,Shimizu K,Tsujimoto G

    更新日期:2011-04-01 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

  • 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

  • The NR4A nuclear receptor family in eosinophils.

    abstract::It is well-known that many members of the family of nuclear receptors have been implicated in human diseases, and metabolic disorders in particular. The NR4A nuclear receptor family consists of three members, Nur77, Nurr1, and NOR1. All of these are orphan receptors, and Nur77 and NOR1 exert possible pathological role...

    journal_title:Journal of human genetics

    pub_type: 杂志文章,评审

    doi:10.1007/s10038-006-0085-2

    authors: Hashida R,Ohkura N,Saito H,Tsujimoto G

    更新日期:2007-01-01 00:00:00

  • Association between genetic variation in the gene for death-associated protein-3 (DAP3) and adult asthma.

    abstract::Lung epithelium plays a central role in modulation of the lung inflammatory response, and lung repair and airway epithelial cells are targets in asthma and viral infection. Activated T lymphocytes release cytokines such as interferon-gamma (IFN-gamma) that induce apoptosis, or programmed cell death, of damaged epithel...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s10038-004-0161-4

    authors: Hirota T,Obara K,Matsuda A,Akahoshi M,Nakashima K,Hasegawa K,Takahashi N,Shimizu M,Sekiguchi H,Kokubo M,Doi S,Fujiwara H,Miyatake A,Fujita K,Enomoto T,Kishi F,Suzuki Y,Saito H,Nakamura Y,Shirakawa T,Tamari M

    更新日期:2004-01-01 00:00:00

  • Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.

    abstract::The cblC type of combined methylmalonic aciduria (MMA) and homocystinuria (HC) is the most common inborn error of vitamin B(12) metabolism and is caused by mutations in the MMACHC gene. To elucidate the spectrum of mutations that causes combined MMA and HC in Chinese patients, the MMACHC gene was sequenced in 79 unrel...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2010.81

    authors: Liu MY,Yang YL,Chang YC,Chiang SH,Lin SP,Han LS,Qi Y,Hsiao KJ,Liu TT

    更新日期:2010-09-01 00:00:00

  • Variant in ERAP1 promoter region is associated with low expression in a patient with a Behçet-like MHC-I-opathy.

    abstract::Behçet disease (BD) is an immune-mediated disease. The cause of BD remains unknown, but the existence of multiple pathological pathways is suspected, including different genetic factors. Polymorphisms in ERAP1 gene have been associated with an increased risk of BD. However, while current BD-associated ERAP1 variants a...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/s10038-019-0709-y

    authors: Dimopoulou C,Lundgren JD,Sundal J,Ullum H,Aukrust P,Nielsen FC,Marvig RL

    更新日期:2020-03-01 00:00:00

  • Mitochondrial DNA and Y-chromosomal stratification in Iran: relationship between Iran and the Arabian Peninsula.

    abstract::Modern day Iran is strategically located in the tri-continental corridor uniting Africa, Europe and Asia. Several ethnic groups belonging to distinct religions, speaking different languages and claiming divergent ancestries inhabit the region, generating a potentially diverse genetic reservoir. In addition, past pre-h...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2010.174

    authors: Terreros MC,Rowold DJ,Mirabal S,Herrera RJ

    更新日期:2011-03-01 00:00:00

  • Expression profiles of two types of human knee-joint cartilage.

    abstract::We have performed a comprehensive analysis of gene-expression profiles in human articular cartilage (hyaline cartilage) and meniscus (fibrocartilage) by means of a cDNA microarray consisting of 23,040 human genes. Comparing the profiles of the two types of cartilage with those of 29 other normal human tissues identifi...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s10038-003-0004-8

    authors: Ochi K,Daigo Y,Katagiri T,Saito-Hisaminato A,Tsunoda T,Toyama Y,Matsumoto H,Nakamura Y

    更新日期:2003-01-01 00:00:00

  • Anticipation in Japanese families with schizophrenia.

    abstract::The identification of anticipation in schizophrenia is a recent focus in the genetic epidemiology of schizophrenia, although it involves some controversial methodological issues. We explored the evidence of anticipation among 44 Japanese two-generation pairs with schizophrenia found by reviewing nine years of admissio...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s100380050076

    authors: Imamura A,Honda S,Nakane Y,Okazaki Y

    更新日期:1998-01-01 00:00:00

  • Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.

    abstract::De novo dominant mutations in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene have recently been shown to cause autosomal dominant cutis laxa with progeroid features (MIM 616603). To date, all de novo dominant mutations have been found in a single highly conserved amino acid residue at position p.Arg138...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2017.18

    authors: Bhola PT,Hartley T,Bareke E,Care4Rare Canada Consortium.,Boycott KM,Nikkel SM,Dyment DA

    更新日期:2017-06-01 00:00:00

  • Polymorphisms of the CD14 gene and atopic phenotypes in Czech patients with IgE-mediated allergy.

    abstract::IgE-mediated allergy is a common chronic disorder resulting from interactions between genetic and environmental factors. The gene encoding CD14 is a positional candidate gene for allergic diseases as it is localised on chromosome 5q31.1, a region linked to asthma and bronchial hyperresponsiveness. We investigated the ...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1007/s10038-006-0050-0

    authors: Bučková D,Hollá LI,Znojil V,Vašků A

    更新日期:2006-01-01 00:00:00

  • Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.

    abstract::The efficacy of pharmacological chaperone therapy for Fabry disease depends on the type of α-galactosidase A (GLA) mutations. Here, we examined the mutation spectrum of the GLA gene among patients from 115 Japanese families with Fabry disease. Of these, no pathogenic mutations were identified in six families (5.2%). I...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/s10038-019-0599-z

    authors: Kobayashi M,Ohashi T,Kaneshiro E,Higuchi T,Ida H

    更新日期:2019-07-01 00:00:00

  • Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.

    abstract::L-2-hydroxyglutaric aciduria (L2HGA) is an autosomal recessive neurometabolic disorder characterized essentially by the presence of elevated levels of L-2-hydroxyglutaric acid (LGA) in plasma, cerebrospinal fluid and urine. L2HGA is caused by a deficiency in the L2-Hydroxyglutaric dehydrogenase (L2HGDH) enzyme involve...

    journal_title:Journal of human genetics

    pub_type: 杂志文章

    doi:10.1038/jhg.2014.4

    authors: Jellouli NK,Hadj Salem I,Ellouz E,Kamoun Z,kamoun F,tlili A,Kaabachi N,Triki C,Fakhfakh F,Tunisian Network on Mental Retardation study.

    更新日期:2014-04-01 00:00:00

  • In vivo genome editing via the HITI method as a tool for gene therapy.

    abstract::Using genome-editing technologies to correct specific mutations represents a potentially transformative new approach for treating genetic disorders. Despite rapid advances in the field of genome editing, it is still unclear whether the long-standing goal of in vivo targeted transgene integration is feasible. This is p...

    journal_title:Journal of human genetics

    pub_type: 杂志文章,评审

    doi:10.1038/s10038-017-0352-4

    authors: Suzuki K,Izpisua Belmonte JC

    更新日期:2018-02-01 00:00:00