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

abstract：:Sinoatrial node dysfunction and deafness (SANDD) syndrome is rare and characterized by a low heart beat and severe-to-profound deafness. Additional features include fatigue, dizziness, and episodic syncope. The sinoatrial node (SAN) drives heart automaticity and continuously regulates heart rate. The CACNA1D gene enco...

journal_title：Journal of human genetics

authors： Liaqat K,Schrauwen I,Raza SI,Lee K,Hussain S,Chakchouk I,Nasir A,Acharya A,Abbe I,Umair M,Ansar M,Ullah I,Shah K,University of Washington Center for Mendelian Genomics.,Bamshad MJ,Nickerson DA,Ahmad W,Leal SM

更新日期：2019-02-01 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

authors： Kang G,Zuo Y

更新日期：2007-01-01 00:00:00

abstract：:The prevalence of spermatogenic failure (SF) has gradually increased during the past few decades at least in several countries. Although multiple factors would be involved in this phenomenon, one important factor would be excessive estrogen effects via estrogen receptors (ERs). Thus, we performed haplotype analysis of...

journal_title：Journal of human genetics

authors： Ogata T,Fukami M,Yoshida R,Nagata E,Fujisawa Y,Yoshida A,Yoshimura Y

更新日期：2012-07-01 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

authors： Errichiello E,Zagnoli-Vieira G,Rizzi R,Garavelli L,Caldecott KW,Zuffardi O

更新日期：2020-12-01 00:00:00

abstract：:Tuberous sclerosis (TS) is a rare autosomal-dominant genetic disease. TS is manifested by the development of multiple hamartomas, which affect brain, kidneys, retina, skin and other organs. This study aimed to reveal specific features of molecular epidemiology of TS in Russia. Blood DNA samples from 61 patients with d...

journal_title：Journal of human genetics

authors： Suspitsin EN,Yanus GA,Dorofeeva MY,Ledashcheva TA,Nikitina NV,Buyanova GV,Saifullina EV,Sokolenko AP,Imyanitov EN

更新日期：2018-05-01 00:00:00

abstract：:Estrogen was considered to be an important protective factor for cardiovascular diseases in women. Genetic association studies suggested that variations of ESR1and ESR2 genes might have a potential role in lipid profile. Our study aimed to investigate the association of single-nucleotide polymorphisms (SNPs) of ESR1 a...

journal_title：Journal of human genetics

authors： Zhao T,Zhang D,Liu Y,Zhou D,Chen Z,Yang Y,Li S,Yu L,Zhang Z,Feng G,He L,Xu H

更新日期：2010-01-01 00:00:00

abstract：:Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive lung disease that is refractory to treatment and carries a high mortality rate. IPF is frequently associated with lung cancer. Identification of molecular targets involved in both diseases may elucidate novel molecular mechanisms contributing to their patho...

journal_title：Journal of human genetics

authors： Kamikawaji K,Seki N,Watanabe M,Mataki H,Kumamoto T,Takagi K,Mizuno K,Inoue H

更新日期：2016-12-01 00:00:00

abstract：:Lymphoblastoid cell lines (LCLs) have been by far the most prevalent cell type used to study the genetics underlying normal and disease-relevant human phenotypic variation, across personal to epidemiological scales. In contrast, only few studies have explored the use of LCLs in functional genomics and mechanistic stud...

journal_title：Journal of human genetics

authors： Jolly LA,Sun Y,Carroll R,Homan CC,Gecz J

更新日期：2018-09-01 00:00:00

abstract：:Vinyl chloride (VC) is a human carcinogen known to undergo metabolism by cytochrome P450 2E1 (CYP2E1) to reactive intermediates that can cause oncogene and tumor suppressor gene mutations and that are further metabolized by acetaldehyde dehydrogenase (ALDH2) and glutathione-S-transferases (GSTs) to non-mutagenic end p...

journal_title：Journal of human genetics

authors： Schindler J,Li Y,Marion MJ,Paroly A,Brandt-Rauf PW

更新日期：2007-01-01 00:00:00

abstract：:The current understanding of the genetic architecture of lipids has largely come from genome-wide association studies (GWAS). To date, few GWAS have examined the genetic architecture of lipids in Polynesians, and none have in Samoans, whose unique population history, including many population bottlenecks, may provide ...

journal_title：Journal of human genetics

authors： Carlson JC,Weeks DE,Hawley NL,Sun G,Cheng H,Naseri T,Reupena MS,Tuitele J,Deka R,McGarvey ST,Minster RL

更新日期：2021-02-01 00:00:00

abstract：:Several genetic loci (JAZF1, CDC123/CAMK1D, TSPAN8/LGR5, ADAMTS9, VEGFA and HHEX-IDE) were identified to be significantly related to the risk of type 2 diabetes and quantitative metabolic traits in European populations. Here, we aimed to evaluate the impacts of these novel loci on type 2 diabetes risk in a population-...

journal_title：Journal of human genetics

authors： Zhou DZ,Liu Y,Zhang D,Liu SM,Yu L,Yang YF,Zhao T,Chen Z,Kan MY,Zhang ZF,Feng GY,Xu H,He L

更新日期：2010-12-01 00:00:00

abstract：:The prefrontal cortex has been implicated in schizophrenia (SZ) and affective disorders by gene expression studies. Owing to reciprocal connectivity, the thalamic nuclei and their cortical fields act as functional units. Altered thalamic gene expression would be expected to occur in association with cortical dysfuncti...

journal_title：Journal of human genetics

authors： Chu TT,Liu Y,Kemether E

更新日期：2009-11-01 00:00:00

abstract：:In previous studies, a specific paternal lineage with a null value for the Y-chromosome short tandem repeat (Y-STR) marker DYS448 was identified as common among Mongolic- and Turkic-speaking populations. This paternal lineage (temporarily named C3*-DYS448del) was determined to be M217+, M93-, P39-, M48-, M407-, and P5...

journal_title：Journal of human genetics

authors： Wei LH,Huang YZ,Yan S,Wen SQ,Wang LX,Du PX,Yao DL,Li SL,Yang YJ,Jin L,Li H

更新日期：2017-10-01 00:00:00

abstract：:Disrupted-in-schizophrenia 1 (DISC1) was reported to be associated with schizophrenia. In a previous study, we found significant association with schizophrenia patients with deficient sustained attention assessed by continuous performance test (CPT). This study aimed to identify risk polymorphisms in this specific neu...

journal_title：Journal of human genetics

authors： Liu CM,Liu YL,Hwu HG,Fann CS,Yang UC,Hsu PC,Chang CC,Chen WJ,Hwang TJ,Hsieh MH,Liu CC,Chien YL,Lin YT,Tsuang MT

更新日期：2019-07-01 00:00:00

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

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

abstract：:A few mutations in the gene encoding the gamma 2 subunit of the gamma-aminobutyric acid receptor type A (GABRG2) have been reported in various types of epilepsy. The aim of this study is to investigate the role of GABRG2 in the pathogenesis of childhood epilepsy in a large Japanese cohort. Genetic analysis of GABRG2 w...

journal_title：Journal of human genetics

authors： Shi X,Huang MC,Ishii A,Yoshida S,Okada M,Morita K,Nagafuji H,Yasumoto S,Kaneko S,Kojima T,Hirose S

更新日期：2010-06-01 00:00:00

abstract：:Osteosclerotic metaphyseal dysplasia (OSMD) is a rare skeletal dysplasia characterized by osteosclerotic metaphyses with osteopenic diaphyses of the long tubular bones. Our previous study identified a homozygous elongation mutation in leucine-rich repeat kinase 1 gene (LRRK1) in a patient with OSMD and showed that Lrr...

journal_title：Journal of human genetics

authors： Guo L,Girisha KM,Iida A,Hebbar M,Shukla A,Shah H,Nishimura G,Matsumoto N,Nismath S,Miyake N,Ikegawa S

更新日期：2017-03-01 00:00:00

abstract：:We report the case of a 12 year-old boy with oto-palato-digital syndrome type II (OPD II). He had various anomalies at birth, including bilateral cataracts, bilateral glaucoma, bilateral severe hearing impairment, congenital heart defect, umbilical herniation, bowed extremities and constrictions of various joints. The...

journal_title：Journal of human genetics

authors： Kondoh T,Okamoto N,Norimatsu N,Uetani M,Nishimura G,Moriuchi H

更新日期：2007-01-01 00:00:00

abstract：:The Japanese Genetic Research Group for Eating Disorders (JGRED) is a multisite collaborative study group that was organized for the systematic recruitment of patients with an eating disorder for the purpose of genetic study in Japan. We conducted a genome-wide case-control association study using 23 465 highly polymo...

journal_title：Journal of human genetics

authors： Nakabayashi K,Komaki G,Tajima A,Ando T,Ishikawa M,Nomoto J,Hata K,Oka A,Inoko H,Sasazuki T,Japanese Genetic Research Group for Eating Disorders (JGRED).,Shirasawa S

更新日期：2009-09-01 00:00:00

abstract：:Fabry disease is a genetic disorder caused by a deficiency of α-galactosidase A (GLA). In our previous studies, we structurally investigated Fabry disease using a structural analysis system, and revealed that structural changes in GLA are very important for understanding the molecular basis of this disease. To the bes...

journal_title：Journal of human genetics

authors： Saito S,Ohno K,Sakuraba H

更新日期：2011-06-01 00:00:00

abstract：:The mechanism of speciation has remained largely unresolved, and hominoid evolutionary history based on chromosome rearrangements has been continuously challenged. The recent availability of the human-derived chromosome 1-specific midisatellite (D1Z2) and chromosome X-specific macrosatellite (DXZ4) DNA sequence probes...

journal_title：Journal of human genetics

authors： Samonte RV,Conte RA,Verma RS

更新日期：1999-01-01 00:00:00

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

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

abstract：:Dent's disease (DD) involves nephrocalcinosis, urolithiasis, hypercalciuria, LMW proteinuria, and renal failure in various combinations. Males are affected. It is caused by mutations in the chloride channel CLCN5 gene. It has been suggested that DD is underdiagnosed, occurring in less overt forms, apparently without f...

journal_title：Journal of human genetics

authors： Tosetto E,Graziotto R,Artifoni L,Nachtigal J,Cascone C,Conz P,Piva M,Dell'Aquila R,De Paoli Vitali E,Citron L,Nalesso F,Antonello A,Vertolli U,Zagatti R,Lupo A,D'Angelo A,Anglani F,Gambaro G

更新日期：2006-01-01 00:00:00

abstract：:Human carboxyl ester lipase (CEL) secreted by the pancreas into the duodenum is a glycoprotein playing an essential role in the intestinal processing of cholesterol and lipid-soluble vitamins. The gene encoding CEL was known to contain a tandemly repeated sequence of the 11-amino-acid motif in the C-terminal region. W...

journal_title：Journal of human genetics

authors： Higuchi S,Nakamura Y,Saito S

更新日期：2002-01-01 00:00:00

abstract：:Ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1, also known as PC-1) inhibits insulin signal transduction pathway(s). Previous studies have demonstrated the K121Q variant of the ENPP1 gene to have a significant functional role in determining susceptibility to insulin resistance and type 2 diabetes (T2D). To...

journal_title：Journal of human genetics

authors： Keshavarz P,Inoue H,Sakamoto Y,Kunika K,Tanahashi T,Nakamura N,Yoshikawa T,Yasui N,Shiota H,Itakura M

更新日期：2006-01-01 00:00:00

abstract：:Leigh syndrome is one of the most common subtypes of mitochondrial disease. Mutations in encoding genes of oxidative phosphorylation complexes have been frequently reported, of which, MTATP6 was one of the most frequently reported genes for Leigh syndrome. In this study, by using next-generation sequencing targeted to...

journal_title：Journal of human genetics

authors： Lou X,Shi H,Wen S,Li Y,Wei X,Xie J,Ma L,Yang Y,Fang H,Lyu J

更新日期：2018-12-01 00:00:00

abstract：:The predominant risk factor of metabolic syndrome is intra-abdominal fat accumulation, which is determined by waist circumference and waist-hip ratio measurements and visceral fat area (VFA) that is measured by computed tomography (CT). There is evidence that waist circumference and waist-hip ratio in the Caucasian po...

journal_title：Journal of human genetics

authors： Hotta K,Nakamura M,Nakamura T,Matsuo T,Nakata Y,Kamohara S,Miyatake N,Kotani K,Komatsu R,Itoh N,Mineo I,Wada J,Yoneda M,Nakajima A,Funahashi T,Miyazaki S,Tokunaga K,Kawamoto M,Masuzaki H,Ueno T,Hamaguchi K,Tanak

更新日期：2010-11-01 00:00:00

abstract：:Pseudo-Bartter/Gitelman syndrome (p-BS/GS) encompasses a clinically heterogeneous group of inherited or acquired disorders similar to Bartter syndrome (BS) or Gitelman syndrome (GS), both renal salt-losing tubulopathies. Phenotypic overlap frequently occurs between p-BS/GS and BS/GS, which are difficult to diagnose ba...

journal_title：Journal of human genetics

authors： Matsunoshita N,Nozu K,Yoshikane M,Kawaguchi A,Fujita N,Morisada N,Ishimori S,Yamamura T,Minamikawa S,Horinouchi T,Nakanishi K,Fujimura J,Ninchoji T,Morioka I,Nagase H,Taniguchi-Ikeda M,Kaito H,Iijima K

更新日期：2018-07-01 00:00:00

abstract：:Type 2 diabetes mellitus (T2DM) is a group of multifactorial disorders due to either defective insulin secretion or action. Despite the fact that numerous genetic researches of T2DM have been pursued, the pathogenic mechanisms remain obscure. We encountered a T2DM family associated with a balanced reciprocal transloca...

journal_title：Journal of human genetics

authors： Kamimura J,Wakui K,Kadowaki H,Watanabe Y,Miyake K,Harada N,Sakamoto M,Kinoshita A,Yoshiura KI,Ohta T,Kishino T,Ishikawa M,Kasuga M,Fukushima Y,Niikawa N,Matsumoto N

更新日期：2004-01-01 00:00:00

abstract：:Germline mutations in the tumor suppressor genes BRCA1 and BRCA2 are responsible for a large proportion of familial breast cancer cases, and therefore, BRCA1 and BRCA2 genetic testing has become increasingly common in clinical practice. However, variants of uncertain significance (VUS) have been detected in 16.3% of J...

journal_title：Journal of human genetics

authors： Kawaku S,Sato R,Song H,Bando Y,Arinami T,Noguchi E

更新日期：2013-09-01 00:00:00