Abstract:
:The differential transmission of alleles from parents to affected children indicates that the locus under investigation is either directly involved in the occurrence of the disease or that there are allelic associations with other loci that are directly involved. Conditional logistic regression applied to a diallelic locus leads to a test with two degrees of freedom. The power of a single degree of freedom test to detect non-multiplicative allelic effects is discussed here.
journal_name
J Hum Genetjournal_title
Journal of human geneticsauthors
Ayres KL,Curnow RNdoi
10.1007/s10038-004-0217-5keywords:
subject
Has Abstractpub_date
2005-01-01 00:00:00pages
46-48issue
1eissn
1434-5161issn
1435-232Xpii
10.1007/s10038-004-0217-5journal_volume
50pub_type
杂志文章abstract::The Ras-CRK-Rap1 cellular signal-transduction system is regulated by guanine nucleotide exchange factors (GEFs). Transcription of C3G on chromosome 9q34 and a key member of the GEF gene family is activated by the CRK-adaptor protein; the C3G product is a CRK SH3 domain-binding guanine nucleotide-releasing factor. We d...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-004-0148-1
更新日期:2004-01-01 00:00:00
abstract::Schizophrenia is a highly complex inheritable disease characterized by numerous genetic susceptibility elements, each contributing a modest increase in risk for the disease. Although numerous linkage or association studies have identified a large set of schizophrenia-associated loci, many are controversial. In additio...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.24
更新日期:2010-05-01 00:00:00
abstract::Induction rates of the dicentrics and translocations involving chromosomes 2 and 4 in peripheral lymphocytes irradiated with X-rays at a dose of 3 Gy were examined using a conventional Giemsa staining method and a chromosome painting method. In total, 228 reciprocal exchanges detected in 982 metaphases were classified...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-003-0071-x
更新日期:2003-01-01 00:00:00
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
更新日期:2005-01-01 00:00:00
abstract::Tissue factor (TF) is important for initiation of coagulation and for the increased thrombin activity observed at sites of inflammation. Thrombin activity is induced by allergen challenge in asthmatic airways and is involved in the pathogenesis of asthma. A -603A --> G polymorphism (rs1361600) in the promoter region o...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.4
更新日期:2010-03-01 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::Defects in the mitochondrial translation apparatus can impair energy production in affected tissues and organs. Most components of this apparatus are encoded by nuclear genes, including GFM2, which encodes a mitochondrial ribosome recycling factor. A few patients with mutations in some of these genes have been reporte...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2015.57
更新日期:2015-09-01 00:00:00
abstract::Mutations of OCRL cause Lowe syndrome, which is characterised by congenital cataracts, infantile hypotonia with mental retardation, and renal tubular dysfunction and Dent-2 disease, which only affects the kidney. While few patients with an intermediate phenotype between these diseases have been reported, the mechanism...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-020-0773-3
更新日期:2020-10-01 00:00:00
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
更新日期:2018-02-01 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
pub_type: 杂志文章
doi:10.1038/s10038-018-0505-0
更新日期:2018-12-01 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
pub_type: 杂志文章
doi:10.1038/s10038-020-0816-9
更新日期:2021-02-01 00:00:00
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
更新日期:2003-01-01 00:00:00
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
更新日期:2003-01-01 00:00:00
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
更新日期:2011-03-01 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
pub_type: 杂志文章
doi:10.1038/jhg.2009.122
更新日期:2010-01-01 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::Multiple testing occurs commonly in genome-wide association studies with dense SNPs map. With numerous SNPs, not only the genotyping cost and time increase dramatically, many family wise error rate (FWER) controlling methods may fail for being too conservative and of less power when detecting SNPs associated with dise...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-007-0159-9
更新日期:2007-01-01 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::Single nucleotide polymorphism (SNP) interaction plays a critical role for complex diseases. The primary limitation of logistic regressions (LR) in testing SNP-SNP interactions is that coefficient estimates may not be valid because of numerous terms in a model. Multivariate adaptive regression splines (MARS) have usef...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-008-0313-z
更新日期:2008-01-01 00:00:00
abstract::The roles of the erythropoietin (Epo) 3' enhancer in the activation of gene expression in response to hypoxia were investigated. The enhancer contains hypoxia-inducible enhancer binding site 1 (HIF-1 element) and two direct repeats of hexanucleotide consensus nuclear receptor half site (HNF-4 element). HIF-1, which is...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050163
更新日期:1999-01-01 00:00:00
abstract::Congenital scoliosis (CS) is a form of scoliosis caused by congenital vertebral malformations. Genetic predisposition has been demonstrated in CS. We previously reported that TBX6 loss-of-function causes CS in a compound heterozygous model; however, this model can explain only 10% of CS. Many monogenic and polygenic C...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-019-0698-x
更新日期:2020-03-01 00:00:00
abstract::Examination of the carrier state was performed in 744 unrelated mothers of the Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) probands with identified mutations in the dystrophin gene. Owing to that it was possible to assess frequency and type of new mutations in the gene. Contrary to the Japanese obs...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2017.70
更新日期:2017-10-01 00:00:00
abstract::The widely used Western BRCA mutation prediction models underestimated the risk of having a BRCA mutation in Korean breast cancer patients. This study aimed to identify predictive factors for BRCA1/2 mutations and to develop a Korean BRCA risk calculator. The model was constructed by logistic regression model, and it ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2015.164
更新日期:2016-05-01 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
pub_type: 杂志文章
doi:10.1038/jhg.2012.53
更新日期:2012-07-01 00:00:00
abstract::Developmental dyslexia (DD) is a neurodevelopment disorder characterized by reading disabilities without apparent etiologies. Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a structural craniofacial malformation featured by isolated orofacial abnormalities. Despite substantial phenotypic differences, ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2016.121
更新日期:2017-02-01 00:00:00
abstract::We identified a novel de novo heterozygous missense mutation in the NEDD4L gene (NM_015277: c.2617G>A; p.Glu873Lys) through whole-exome sequencing in a 3-year-old girl showing severe global developmental delay, infantile spasms, cleft palate, periventricular nodular heterotopia and polymicrogyria. Mutations in the HEC...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2017.53
更新日期:2017-09-01 00:00:00
abstract::When compared with single gene functional analysis, gene set analysis (GSA) can extract more information from gene expression profiles. Currently, several gene set methods have been proposed, but most of the methods cannot detect gene sets with a large number of minor-effect genes. Here, we propose a novel distance-ba...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2012.86
更新日期:2012-10-01 00:00:00
abstract::Hypercholesterolemia is caused by different interactions of lifestyle and genetic determinants. At the genetic level, it can be attributed to the interactions of multiple polymorphisms, or as in the example of familial hypercholesterolemia (FH), it can be the result of a single mutation. A large number of genetic mark...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2012.34
更新日期:2012-06-01 00:00:00
abstract::Site-1 protease (S1P) is a subtilisin-related enzyme that cleaves sterol regulatory element-binding proteins (SREBPs) in the lumen of endoplasmic reticulum, thereby initiating the release of transcriptionally active NH2-terminal fragments of SREBPs from membranes. In the experiments reported here, we localized the hum...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380070029
更新日期:2000-01-01 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