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 undetectable in a proportion of GD patients. We previously reported the association of HLA-A 02 and -DPB1 0501 with TBII-positive GD, whereas TBII-negative GD showed association with HLA-A 02 and DPB1 0202. Recently, polymorphisms of cytotoxic T-lymphocyte-associated antigen-4 (CTLA4) gene are reported to be associated with GD. In this study, we investigated 329 (240 TBII-positive and 89 TBII-negative) GD patients and 378 controls for the polymorphisms in HLA-A, -DPB1 and CTLA4 (CT60, rs3087243, A/G) to investigate the contribution of these factors in the susceptibility to GD. A significant association with CTLA4 was found for the TBII-positive GD (G carriers in patients vs controls, 97.1 vs 91.8%; odds ratio (OR)=2.97, 95% confidence interval=1.29-6.87, P=0.008), but the association was weak and not significant for the TBII-negative GD (94.4 vs 91.8%; OR=1.50, 95% confidence interval=0.57-3.98, P=0.41). Stratification analyses suggested a possible synergistic interaction of CTLA4 with HLA-A 02 and -DPB1 0501 in the susceptibility to TBII-positive GD.
journal_name
J Hum Genetjournal_title
Journal of human geneticsauthors
Takahashi M,Kimura Adoi
10.1038/jhg.2010.20subject
Has Abstractpub_date
2010-05-01 00:00:00pages
323-6issue
5eissn
1434-5161issn
1435-232Xpii
jhg201020journal_volume
55pub_type
杂志文章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
更新日期:2006-01-01 00:00:00
abstract::To elucidate possible physiological functions of human endogenous retroviruses (HERVs) and their role in the pathogenesis of human diseases, we have developed a strategy to identify transcriptionally active HERV genes. By this approach, we have identified and isolated an active HERV-E gene that was mapped to 17q11. Al...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170012
更新日期:2001-01-01 00:00:00
abstract::Panic disorder (PD) is a severe and chronic psychiatric disorder, with significant genetic components in the etiology. Brain-derived neurotrophic factor (BDNF) gene, which has regulatory effects on neurotransmitter systems such as serotonin and dopamine, is a candidate for susceptibility locus of PD. This study invest...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2009.46
更新日期:2009-08-01 00:00:00
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
更新日期:2005-01-01 00:00:00
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
更新日期:2020-03-01 00:00:00
abstract::CRISPR/Cas9-based tools have rapidly developed in recent years. These include CRISPR-based gene activation (CRISPRa) or inhibition (CRISPRi), for which there are libraries. CRISPR libraries for loss of function have been widely used to identify new biological mechanisms, such as drug resistance and cell survival signa...
journal_title:Journal of human genetics
pub_type: 杂志文章,评审
doi:10.1038/s10038-017-0376-9
更新日期:2018-02-01 00:00:00
abstract::Infantile hypertrophic pyloric stenosis (IHPS) is a multifactorial heritable condition affecting infants in the first 3 months of life. It is characterized by hypertrophy of the pylorus resulting in blockage of the pyloric canal. Patients present with projectile vomiting, weight loss and dehydration. Five susceptibili...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2013.10
更新日期:2013-04-01 00:00:00
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
更新日期:2003-01-01 00:00:00
abstract::We found a five-basepair insertion/deletion polymorphism in intron 3 of TNNT2, one of the genes responsible for hypertrophic cardiomyopathy. These five bases may be part of an intronic polypyrimidine tract sequence that may affect splicing. The purpose of the study was to examine the association of the polymorphism wi...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-003-0121-4
更新日期:2004-01-01 00:00:00
abstract::Numerous CpG islands containing tissue-specific differentially methylated regions (TDMRs) are potential methylation sites in normal cells and tissues. The VASA (also known as DDX4) gene is believed to be under the control of TDMRs. A total of 131 male patients with idiopathic azoospermia or severe oligospermia were ev...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2009.59
更新日期:2009-08-01 00:00:00
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
更新日期:2007-01-01 00:00:00
abstract::We constructed a high-density single-nucleotide polymorphism (SNP) map in the 96-kb region containing the DiGeorge syndrome critical region 2 (DGCR2) gene at chromosome 22q11.2, a human counterpart of mouse seizure-related gene SEZ-12. A total of 102 SNPs were isolated from the region by systematic screening among 48 ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170029
更新日期:2001-01-01 00:00:00
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
更新日期:2019-01-01 00:00:00
abstract::Recently, pharmacological chaperone therapy for Pompe disease with small molecules such as imino sugars has attracted interest. But mutant acid α-glucosidase (GAA) species responsive to imino sugars are limited. To elucidate the characteristics of a mutant GAA responsive to imino sugars, we performed biochemical and s...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2011.36
更新日期:2011-06-01 00:00:00
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
更新日期:1998-01-01 00:00:00
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
更新日期:2013-09-01 00:00:00
abstract::GNE myopathy is a rare autosomal recessive distal myopathy caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), the bi-functional enzyme critical for sialic acid biosynthesis. In this study, we summarized the clinical features, pathological characteristics, and genetic profiles ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-018-0525-9
更新日期:2019-01-01 00:00:00
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
更新日期:2020-12-01 00:00:00
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
更新日期:2017-12-01 00:00:00
abstract::Two novel mutations in the gene encoding T-protein, a component of the glycine cleavage system, were identified in a Japanese family with nonketotic hyperglycinemia. The proband had two affected sibs, and enzymatic analysis of the liver sample from the proband revealed the T-protein deficiency. The first mutation, 183...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050055
更新日期:1998-01-01 00:00:00
abstract::Genome-wide association studies (GWAS) are being conducted to identify common genetic variants that predispose to human diseases to unravel the genetic etiology of complex human diseases now. Because of genotyping cost constraints, it often follows a two-stage design, in which a large number of markers are identified ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-007-0177-7
更新日期:2007-01-01 00:00:00
abstract::Spinal muscular atrophy (SMA) is caused by functional loss of the survival of motor neuron 1 (SMN1) gene. Despite genetic homogeneity, phenotypic variability indicates the involvement of disease modifiers. SMN1 is located in 5q13.2 segmental duplication, enriched in genes and prone to unequal rearrangements, which res...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2015.104
更新日期:2015-11-01 00:00:00
abstract::We report a family with progressive myoclonic epilepsy who underwent whole-exome sequencing but was negative for pathogenic variants. Similar clinical courses of a devastating neurodegenerative phenotype of two affected siblings were highly suggestive of a genetic etiology, which indicates that the survey of genetic v...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-019-0569-5
更新日期:2019-05-01 00:00:00
abstract::Phenylalanine hydroxylase (PAH) deficiency is responsible for most cases of phenylketonuria (PKU). In this study of the PAH mutation spectrum in the Taiwanese population, 139 alleles were identified including 34 different mutations. The V190G, Q267R and F392I mutations are first reported in this study. The most common...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2013.136
更新日期:2014-03-01 00:00:00
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
更新日期:2016-10-01 00:00:00
abstract::Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder that is clinically characterized by cerebellar ataxia and various associated symptoms. The disease is caused by an unstable expansion of the CAG repeat in the MJD gene. This gene is mapped to chromosome 14q32.1. To determine its genomic s...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170060
更新日期:2001-01-01 00:00:00
abstract::Connective tissue growth factor (CTGF) has been implicated in the pathogenesis of diabetic nephropathy; however, to date there have been no reports of genomic analysis on this gene. The CTGF gene was comprehensively screened using WAVE (dHPLC) technology and direct capillary sequencing. Single nucleotide polymorphisms...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-006-0368-7
更新日期:2006-01-01 00:00:00
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
更新日期:2000-01-01 00:00:00
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
更新日期:2004-01-01 00:00:00
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
更新日期:2017-11-01 00:00:00