Abstract:
: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 the longevity allele does not depend on its position in the genome, these two problems can be solved separately using a two-step procedure. We proposed an extension of this method allowing us to search the position of two longevity genes at a chromosome using the bivariate survival data with correlated competing risks combined with genetic markers data. We have studied the properties of the model with two longevity genes located on the same and on different chromosomes using simulated data sets.
journal_name
J Hum Genetjournal_title
Journal of human geneticsauthors
Begun Adoi
10.1038/jhg.2013.80subject
Has Abstractpub_date
2013-10-01 00:00:00pages
694-9issue
10eissn
1434-5161issn
1435-232Xpii
jhg201380journal_volume
58pub_type
杂志文章abstract::Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 (polycystic kidney and hepatic disease 1) gene on chromosome 6p12. The longest continuous open reading frame comprises 66 exons encoding a novel 4,074 aa multidomain integral membrane protein (polyductin/fibrocystin) of unknown f...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-006-0022-4
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journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2014.82
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journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2016.121
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abstract::Intracranial vertebral-basilar artery dissection (IVAD) is an arterial disorder leading to life-threatening consequences. Genetic factors are known to be causative to certain syndromic forms of IVAD. However, systematic study of the molecular basis of sporadic and isolated IVAD is lacking. To identify genetic variants...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-018-0496-x
更新日期:2018-11-01 00:00:00
abstract:UNLABELLED:Gastrointestinal (GI) cancer is responsible for the majority of deaths among all types of cancer. Lifestyle factors may not only be the main risk factor for GI cancer but reactive oxygen species (ROS) may also be involved. The single-nucleotide polymorphisms (SNPs) 609C>T (rs1800566) and 465C>T (rs1131341) i...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2014.38
更新日期:2014-07-01 00:00:00
abstract::Genome-wide association studies and integrative genomics approaches have demonstrated significant associations between chronic obstructive pulmonary disease (COPD) and single-nucleotide polymorphisms (SNPs) in the chromosome 15q25 region that includes iron-responsive element binding protein 2 gene (IREB2) and CHRNA3/5...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2012.104
更新日期:2012-11-26 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
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journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.106
更新日期:2010-11-01 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
pub_type: 杂志文章
doi:10.1038/jhg.2013.103
更新日期:2013-12-01 00:00:00
abstract::Androgen insensitivy syndrome (AIS) is the most frequent cause of male pseudohermaphroditism resulting from target-organ resistance to androgen action. Individuals bearing the complete form of the disease (CAIS) present a female phenotype and a lack of pubic and axillary hair. In the present study, four 46,XY patients...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-003-0036-0
更新日期:2003-01-01 00:00:00
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
更新日期:2004-01-01 00:00:00
abstract::Trisomy 18 (T18) and trisomy 13 (T13) are major concerns in prenatal genetic testing due to their poor prognosis; very low birth weight (VLBW) is also a concern in neonatology. The aim of this study was to investigate the mortality and morbidity of VLBW infants diagnosed with T18/T13 in Japan, compared with those with...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-020-00825-6
更新日期:2021-03-01 00:00:00
abstract::Autosomal dominant cerebellar ataxia (ADCA) is a genetically heterogeneous group of neurodegenerative disorders with overlapping clinical presentation. Recently, a single nucleotide substitution in the 5'-untranslated region (UTR) of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 has been shown to be associate...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-006-0372-y
更新日期:2006-01-01 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
pub_type: 杂志文章
doi:10.1038/jhg.2009.93
更新日期:2009-11-01 00:00:00
abstract::Micrognathia is a common craniofacial deformity which represents hypoplastic development of the mandible, accompanied by retrognathia and consequent airway problems. Usually, micrognathia is accompanied by multiple systematic defects, known as syndromic micrognathia, and is in close association with genetic factors. N...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-019-0630-4
更新日期:2019-09-01 00:00:00
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
更新日期:2015-04-01 00:00:00
abstract::Local genomic architecture, such as segmental duplications (SDs), can induce copy number variations (CNVs) hotspots in the human genome, many of which manifest as genomic disorders. Significant technological advances have been achieved for genome-wide CNV investigations, but these costly methods are not suitable for g...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2012.66
更新日期:2012-08-01 00:00:00
abstract::Recently, the use of genome-wide linkage disequilibrium (LD) analysis to localize traits has attracted much attention because of the introduction of high-throughput genotyping systems. However, a limitation of such studies is often the total cost of genotyping in addition to sample size. Therefore, it is important to ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200050
更新日期:2002-01-01 00:00:00
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
更新日期:2019-07-01 00:00:00
abstract::Genetic studies of neuropsychiatric disorders have often produced conflicting results, which might partly result from the involvement of epigenetic modifications. We intended to explore the possible implication of DNA methylation and human endogenous retroviruses (HERVs) in neuropsychiatric disorders. In the present s...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-003-0081-8
更新日期:2003-01-01 00:00:00
abstract::Chromosome 5, especially the 5q31-33 region, may contain one or more loci to control total serum IgE as well as asthma and bronchial hyperresponsiveness. To investigate the regions related with IgE level in chromosome 5, we performed a case-control association study on 105 high-IgE-level and 85 normal-IgE-level asthma...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-004-0215-7
更新日期:2005-01-01 00:00:00
abstract::Genetic and lifestyle factors are important in the pathogenesis of osteoporosis. We investigated the relationships of PvuII and XbaI polymorphisms of the estrogen receptor alpha (ER-alpha) gene, lifestyle factors with speed of sound at the calcaneus (calcaneal SOS) and osteoporosis in a population-based study of 140 h...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-006-0055-8
更新日期:2006-01-01 00:00:00
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
更新日期:2021-01-06 00:00:00
abstract::As a result of the combination of great linguistic and cultural diversity, the highland populations of Daghestan present an excellent opportunity to test the hypothesis of language-gene coevolution at a fine geographic scale. However, previous genetic studies generally have been restricted to uniparental markers and h...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2015.132
更新日期:2016-03-01 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::Fragile X syndrome (FXS) is a neurodevelopmental disorder and a leading monogenic form of cognitive impairment and autism. It is the most common form of inherited mental retardation in males and a significant cause of mental retardation in females. It is caused by the instability and subsequent expansion of the CGG re...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.140
更新日期:2011-01-01 00:00:00
abstract::mRNA is an important tool to study the effects of particular mutations on the mode of splicing and transcripts. However, it is often difficult to isolate mRNA because the organ or tissue in which the gene is expressed cannot be sampled. We previously identified two probable splicing mutations (c.6485+5G>A and c.8559-2...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.83
更新日期:2010-10-01 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::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::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
更新日期:2012-05-01 00:00:00