Abstract:
:Association studies on the MTHFR polymorphisms (C677T and A1298C) in colorectal cancer (CRC) and colorectal adenoma have shown conflicting results. We performed a meta-analysis to better assess the purported associations. Overall, the 677T allele (10,131 patients and 15,362 controls) showed a small but significant protective effect against CRC compared to the 677C allele [P=0.0003, odds ratio (OR)=0.93; 95% confidence interval (CI) 0.89-0.98, P=0.22 (for heterogeneity)] for a worldwide population. Meta-analyses of other genetic contrasts suggested that the 677T allele is more likely to affect CRC in a recessive genetic model worldwide (P<0.0001, OR=0.86; 95% CI 0.76-0.96, P=0.06) and in Asians (P=0.0005, OR=0.75; 95% CI 0.64-0.88, P=0.71). Similarly, we found a significantly decreased risk of CRC for 1298C polymorphism (4,764 CRC patients and 6,592 controls) for a recessive genetic model worldwide (P=0.005, OR=0.81; 95% CI 0.70-0.94, P=0.40) and in Caucasians (P=0.04, OR=0.75 95% CI 0.57-0.99, P=0.35). No evidence of association of C677T (4,616 patients and 6,338 controls) and A1298C (1,272 patients and 1,684 controls) with colorectal adenoma were found. The evidence accumulated suggests that MTHFR may represent a low-penetrance susceptible gene for CRC, and that the two polymorphisms might protect against colorectal adenoma developing into cancer. A larger single study is required to further evaluate gene-gene and gene-environment interactions for MTHFR polymorphisms and the cancer risk in a specific population.
journal_name
J Hum Genetjournal_title
Journal of human geneticsauthors
Huang Y,Han S,Li Y,Mao Y,Xie Ydoi
10.1007/s10038-006-0082-5subject
Has Abstractpub_date
2007-01-01 00:00:00pages
73-85issue
1eissn
1434-5161issn
1435-232Xpii
10.1007/s10038-006-0082-5journal_volume
52pub_type
杂志文章,meta分析abstract::Human minisatellite B6.7 shows extensive allele length and structural variability in north Europeans. We analysed this locus in the Japanese population. Allele size distributions showed that Japanese retain extensive allele length variability but have significantly smaller alleles compared with north Europeans. In con...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200031
更新日期:2002-01-01 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::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::Intellectual disability (ID) accounts for 1% of the general population, and it is caused by the interplay between the genetic and/or environmental factors. The genetic components responsible for the development of ID are highly heterogeneous, and the phenotype and severity of the disease vary in patients even if they ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-020-0809-8
更新日期:2020-10-09 00:00:00
abstract::Age-related macular degeneration (AMD) is a common cause of visual impairment in the elderly population in developed countries. The etiology of AMD is not completely understood but environmental and genetic factors have been implicated in the disease. Recently it has been documented that variations in the complement f...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-007-0120-y
更新日期:2007-01-01 00:00:00
abstract::Intracranial aneurysm (IA) is characterized by an abnormal bulging of one of the arteries in the brain and is heavily affected by genetic factors. Although IA is a very serious disease because of its severity and prevalence in the general public, the gene causing IA has not yet been identified due mainly to the lack o...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2011.27
更新日期:2011-06-01 00:00:00
abstract::Molecular diagnosis of genetic bone dysplasia is challenging for non-expert. A targeted next-generation sequencing technology was applied to identify the underlying molecular mechanism of bone dysplasia and evaluate the contribution of these genes to patients with bone dysplasia encountered in pediatric endocrinology....
journal_title:Journal of human genetics
pub_type: 临床试验,杂志文章
doi:10.1038/jhg.2015.112
更新日期:2015-12-01 00:00:00
abstract::We report the clinical and biochemical findings from a patient who presented with Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), an autosomal-dominant disorder characterized by optic atrophy, developmental delay and intellectual disability. In addition, the patient also displays hypotonia, stroke-like episodes...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-017-0398-3
更新日期:2018-04-01 00:00:00
abstract::Multiple pterygium syndrome (MPS) is an autosomal recessively inherited condition that becomes evident before birth, with pterygium at multiple joints and akinesia. There are two forms of this syndrome that are differentiated by clinical severity: the milder form, Escobar type (OMIM#265000), and the more severe form, ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2015.2
更新日期:2015-04-01 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::Mutations in BRCA genes elevate risk for breast and ovarian cancer. These mutations are population specific. As there are no data on BRCA mutation screening on larger number of probands in Serbia to date, aim of this study was to determine types and frequencies of BRCA mutations in individuals from high-risk families ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2013.30
更新日期:2013-08-01 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::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...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2013.80
更新日期:2013-10-01 00:00:00
abstract::Genomic diversity based on 13 short tandem repeat (STR) loci (D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820, D16S539, TH01, TPOX, and CSF1PO) is reported for the first time in Basques from the provinces of Guipúzcoa and Navarre (Spain). STR data from previous studies on Basques from Alava and Viz...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-005-0268-2
更新日期:2005-01-01 00:00:00
abstract::The purpose of the present study was to understand the tissue specificity of DNA methylation and the relationship between methylation and expression of genes with essential roles in neurodevelopment and brain function. We chose dopamine receptor genes (DRD1 and DRD2), NCAM, and COMT as examples of genes with CpG islan...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-006-0382-9
更新日期:2006-01-01 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
pub_type: 杂志文章
doi:10.1038/jhg.2010.117
更新日期:2010-12-01 00:00:00
abstract::IgE-mediated allergy is a common chronic disorder resulting from interactions between genetic and environmental factors. The gene encoding CD14 is a positional candidate gene for allergic diseases as it is localised on chromosome 5q31.1, a region linked to asthma and bronchial hyperresponsiveness. We investigated the ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-006-0050-0
更新日期:2006-01-01 00:00:00
abstract::Osteoarthritis (OA) is a very common bone and joint disease characterized by breakdown of cartilage in the joint. We recently found that an aspartic-acid repeat polymorphism of the asporin gene (ASPN) on chromosome 9 is associated with susceptibility to OA in Japanese. We provide here a high-resolution single nucleoti...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-005-0337-6
更新日期:2006-01-01 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::Spinocerebellar ataxias (SCAs) are a heterogeneous group of disorders with almost 30 subtypes. The prevalence and relative frequency of each subtype vary among different populations. In this article, we report the relative frequency of six SCA subtypes in the Thai population and attempt to explain the observed pattern...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2009.27
更新日期:2009-05-01 00:00:00
abstract::The 16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA; Online Mendelian Inheritance in Man [OMIN] #117210) is one of the most common ADCAs in Japan. Previously, we had reported that the patients share a common haplotype by founder effect and that a C-to-T substitution (-16C>T) in the puratrophin-1 gene was...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-007-0154-1
更新日期:2007-01-01 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
pub_type: 杂志文章
doi:10.1007/s10038-004-0158-z
更新日期:2004-01-01 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
pub_type: 杂志文章
doi:10.1038/s10038-020-0816-9
更新日期:2021-02-01 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::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::Mucolipidosis (ML) III gamma is a rare autosomal-recessive disorder caused by pathogenic mutations in the GNPTG gene. GNPTG encodes the γ-subunit of GlcNAc-1-phosphotransferase that catalyzes mannose 6-phosphate targeting signal synthesis on soluble lysosomal enzymes. ML III gamma patients are characterized by missort...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2016.13
更新日期:2016-06-01 00:00:00
abstract::Over 100 types of congenital disorders of glycosylation (CDG) have been reported and the number is rapidly increasing. However, each type is very rare and is problematic to diagnose. Mannosyl-oligosaccharide glucosidase (MOGS)-CDG (CDG type IIb) is an extremely rare CDG that has only been reported in three patients fr...
journal_title:Journal of human genetics
pub_type: 杂志文章,评审
doi:10.1038/s10038-017-0386-7
更新日期:2018-03-01 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::Interleukin (IL11) is a member of the interleukin 6 (IL6)-related cytokine subfamily, which stimulates T cell-dependent development of immunoglobulin-producing B cells. IL11 is also an important paracrine regulator of bone metabolism that induces formation of osteoclasts. In the work reported here, we sequenced the en...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170052
更新日期:2001-01-01 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
pub_type: 杂志文章
doi:10.1038/jhg.2012.53
更新日期:2012-07-01 00:00:00