Journal of Human Genetics

http://www.nature.com/jhg

List of Papers (Total 1,292)

Truncated UDP-glucuronosyltransferase (UGT) from a Crigler–Najjar syndrome type II patient colocalizes with intact UGT in the endoplasmic reticulum

Mutations in the gene encoding bilirubin UDP-glucuronosyltransferase (UGT1A1) are known to cause Crigler–Najjar syndrome type II (CN-II). We previously encountered a patient with a nonsense mutation (Q331X) on one allele and with no other mutations in the promoter region or other exons, and proposed that CN-II is inherited as a dominant trait due to the formation of a...

Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients

Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked inherited muscular disorders caused by mutations in the dystrophin gene. Two-thirds of DMD cases are thought to be caused by inheritance from carrier mothers and this study aimed to clarify and compare the carrier frequency of mothers of DMD and BMD patients according to the mutation type. We included 139 DMD and 19...

A genome-wide association study of third molar agenesis in Japanese and Korean populations

Tooth agenesis is the most common developmental anomaly of human dentition, occurring most often in the third molar (wisdom tooth). It is affected by genetic variation, so this study aimed to identify susceptibility genes associated with third molar agenesis. Examination of panoramic radiographs and medical history about third molar extraction were used to diagnose third molar...

Y-chromosome diversity in the Kalmyks at the ethnical and tribal levels

The Mongolic-speaking Kalmyks currently inhabiting the steppes of the Volga region have Central Asian ancestry and are organized into the tribal groups. The genetic relationships among these tribes and their origin have remained obscure. We analyzed 17 short tandem repeat and 44 binary polymorphisms of Y-chromosome in 426 individuals mainly from three major tribes of the Kalmyks...

Comprehensive analysis of common and rare mitochondrial DNA variants in elite Japanese athletes: a case–control study

The purpose of the present study was to identify mitochondrial DNA (mtDNA) polymorphisms and rare variants that associate with elite Japanese athletic status. Subjects comprised 185 elite Japanese athletes who had represented Japan at international competitions (that is, 100 endurance/middle-power athletes: EMA; 85 sprint/power athletes: SPA) and 672 Japanese controls (CON). The...

Endothelial nitric oxide synthase gene polymorphism is associated with sickle cell disease patients in India

Patients with sickle cell disease (SCD) produce significantly low levels of plasma nitric oxide (NO) during acute vaso-occlusive crisis. In transgenic sickle cell mice, NO synthesized by endothelial nitric oxide synthase (eNOS) enzyme of vascular endothelial cells has been found to protect the mice from vaso-occlusive events. Therefore, the present study aims to explore possible...

Systematic evaluation of personal genome services for Japanese individuals

Disease risk prediction (DRP) is one of the most important challenges in personal genome research. Although many direct-to-consumer genetic test (DTC) companies have begun to offer personal genome services for DRP, there is still no consensus on what constitutes a gold-standard service. Here, we systematically evaluated the distributions of DRPs from three DTC companies, that is...

Clinical features and management of organic acidemias in Japan

Organic acidemias (OAs) are rare inborn errors of metabolism. The clinical presentations of methylmalonic acidemia (MMA) and propionic acidemia (PA) in Japan have not yet been examined in detail. We aimed to investigate the clinical presentations of OAs in Japan and evaluate current therapies for improving long-term outcomes, especially in MMA and PA cases. Questionnaires were...

Polymorphisms in alcohol-metabolizing enzymes and esophageal carcinoma susceptibility: a Dutch Caucasian case–control study

Esophageal cancer (EC), mainly consisting of squamous cell carcinoma (ESCC) in the Eastern world and adenocarcinoma (EAC) in the Western world, is strongly associated with dietary factors such as alcohol use. We aimed to clarify the modifying role in EC etiology in Caucasians of functional genotypes in alcohol-metabolizing enzymes. In all, 351 Caucasian patients with EC and 430...

Spatial principal component analysis points at global genetic structure in the Western Mediterranean

Many studies have tackled the existence of a genetic barrier in the Strait of Gibraltar between Iberian and North African populations, often with controversial conclusions. Here, we address this issue using a collection of Western Mediterranean populations and two dimensionality reduction methods: principal component analysis (PCA) and spatial PCA (sPCA). Our four different data...

A common polymorphism in the tissue kallikrein gene is associated with increased urinary excretions of calcium and sodium in Japanese volunteers

Tissue kallikrein is an enzyme involved in the release of kinin in peripheral tissues. It is believed to regulate hemodynamics and electrolyte transport in the kidney. The present study analyzed polymorphisms of tissue kallikrein in Japanese volunteers and examined the associations between allele H in the promoter region, which has been shown to have decreased promoter activity...

High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II

The natural progression of the severe form of mucopolysaccharidosis II in children is a rapid decline of neurodevelopmental function with hydrocephalus. Recombinant human iduronate-2-sulfatase enzyme replacement therapy (ERT) under a standard regimen seems to have limited effect. Therefore, we determined whether early, high-dose ERT attenuated ventriculomegaly and histologic...

Pairomics, the omics way to mate choice

The core aspects of the biology and evolution of sexual reproduction are reviewed with a focus on the diploid, sexually reproducing, outbreeding, polymorphic, unspecialized, altricial and cultural human species. Human mate choice and pair bonding are viewed as central to individuals’ lives and to the evolution of the species, and genetic assistance in reproduction is viewed as a...

Genetic variant in vitamin D binding protein is associated with serum 25-hydroxyvitamin D and vitamin D insufficiency in southern Chinese

Previous large-scale genome-wide meta-analysis identified four loci affecting 25-hydroxyvitamin D (25(OH)D) concentrations. However, whether these loci are associated with 25(OH)D concentration in southern Chinese remain unknown. Our primary aim was to examine whether the four top hits (rs2282679, rs10741657, rs12785878 and rs6013897) could be replicated in 712 southern Chinese...

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

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, additional genetic markers data are needed. If the action of...

Genome-wide association study of the five-factor model of personality in young Korean women

Personality is a determinant of behavior and lifestyle associated with health and human diseases. Although personality is known to be a heritable trait, its polygenic nature has made the identification of genetic variants elusive. We performed a genome-wide association study on 1089 Korean women aged 18–40 years whose personality traits were measured with the Revised NEO...

Correlation between the linguistic affinity and genetic diversity of Chinese ethnic groups

As the world’s most populous nation, China exhibits a population with 56 nationalities. We already know the associations between genetic relationship of these ethnic groups in China and their geographic distributions are closely. However, the correlations between genetic diversity and linguistic affinities have still not been fully revealed in China. To investigate these...

The SCN1A gene variants and epileptic encephalopathies

The voltage-gated sodium channels are fundamental units that evoke the action potential in excitable cells such as neurons. These channels are integral membrane proteins typically consisting of one α-subunit, which forms the larger central pore of the channel, and two smaller auxiliary β-subunits, which modulate the channel functions. Genetic alterations in the SCN1A gene coding...

Correcting for differential genotyping error in genetic association analysis

Differential genotype error in case–control association studies occurs when cases and controls are genotyped under different conditions. Existence of differential errors can considerably bias the association test, resulting in inflation of type I error and spurious significance. With the availability of high-throughput genotyping technologies such as the SNPchip, null markers...

Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith–Wiedemann syndrome and Silver–Russell syndrome

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–Wiedemann syndrome (BWS) and the Silver–Russell syndrome (SRS...

Clinical application of the CpG island methylator phenotype to prognostic diagnosis in neuroblastomas

Clinical applications of aberrant DNA methylation to cancer diagnostics and therapeutics are accelerating. Especially, the CpG island methylator phenotype (CIMP), simultaneous methylation of multiple genes, provides information that cannot be obtained by other diagnostic methods and therapeutic opportunities. CIMP is known to be associated with poor or good prognosis depending...

Effects of embryonic manipulation and epigenetics

Embryonic manipulation techniques, such as in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI), are widely used in assisted reproductive technology (ART), livestock propagation and application in other fields. Fertilization with IVF and ICSI have been shown to be highly effective, and the mice produced by these techniques develop healthily and with a normal...