Abstract:
BACKGROUND:RET is the major gene associated to Hirschsprung disease (HSCR) with differential contributions of its rare and common, coding and noncoding mutations to the multifactorial nature of this pathology. In the present study, we have performed a comprehensive study of our HSCR series evaluating the involvement of both RET rare variants (RVs) and common variants (CVs) in the context of the disease. METHODS:RET mutational screening was performed by dHPLC and direct sequencing for the identification of RVs. In addition Taqman technology was applied for the genotyping of 3 RET CVs previously associated to HSCR, including a variant lying in an enhancer domain within RET intron 1 (rs2435357). Statistical analyses were performed using the SPSS v.17.0 to analyze the distribution of the variants. RESULTS:Our results confirm the strongest association to HSCR for the "enhancer" variant, and demonstrate a significantly higher impact of it in male versus female patients. Integration of the RET RVs and CVs analysis showed that in 91.66% of cases with both kinds of mutational events, the enhancer allele is in trans with the allele bearing the RET RV. CONCLUSIONS:A gender effect exists on both the transmission and distribution of rare coding and common HSCR causing mutations. In addition, these RET CVs and RVs seem to act in a synergistic way leading to HSCR phenotype.
journal_name
BMC Med Genetjournal_title
BMC medical geneticsauthors
Núñez-Torres R,Fernández RM,Acosta MJ,Enguix-Riego Mdel V,Marbá M,Carlos de Agustín J,Castaño L,Antiñolo G,Borrego Sdoi
10.1186/1471-2350-12-138subject
Has Abstractpub_date
2011-10-13 00:00:00pages
138issn
1471-2350pii
1471-2350-12-138journal_volume
12pub_type
杂志文章abstract:BACKGROUND:Visceral obesity and metabolic syndrome are commonly associated with non-alcoholic fatty liver disease (NAFLD). The progression of steatosis to NASH depends on a number of metabolic and patient-related factors. The mechanisms of genetic predisposition towards the development of NASH and related fibrosis rema...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-016-0324-0
更新日期:2016-09-05 00:00:00
abstract:BACKGROUND:We evaluated cytogenetic results occurring with first trimester pregnancy loss, and assessed the type and frequency of chromosomal abnormalities after assisted reproductive treatment (ART) and compared them with a control group. We also compared the rate of chromosomal abnormalities according to infertility ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-153
更新日期:2010-11-03 00:00:00
abstract:BACKGROUND:The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, while the recessive variants cause mitochondrial DNA depletion syndrome 7 and Perraul...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01002-4
更新日期:2020-03-31 00:00:00
abstract:BACKGROUND:The present study is an analysis of the frequencies of HLA-A and -B antigens and HLA haplotypes in two groups of individuals homozygous for the two main HFE mutations (C282Y and H63D) and a group heterozygous for the S65C mutation. METHODS:The study population includes: 1123 healthy individuals, 100 homozyg...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-5-25
更新日期:2004-10-21 00:00:00
abstract:BACKGROUND:Variants in the FTO gene have been associated with obesity in children, but this association has not been shown with other biomarkers. We assessed the association of 52 FTO polymorphisms, spanning the whole gene, with obesity and estimated the influence of these polymorphisms on anthropometric, clinical and ...
journal_title:BMC medical genetics
pub_type: 杂志文章,多中心研究
doi:10.1186/1471-2350-14-123
更新日期:2013-12-01 00:00:00
abstract:BACKGROUND:Hemoglobin A1c (HbA1c) levels diagnose diabetes, predict mortality and are associated with ten single nucleotide polymorphisms (SNPs) in white individuals. Genetic associations in other race groups are not known. We tested the hypotheses that there is race-ethnic variation in 1) HbA1c-associated risk allele ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-13-30
更新日期:2012-04-27 00:00:00
abstract:BACKGROUND:Adiponectin gene (ADIPOQ) polymorphisms have been shown to affect adiponectin serum concentration and some have been associated with breast cancer (BC) risk. The aims of this study were to describe the frequency of single nucleotide polymorphisms (SNPs) of ADIPOQ in Mexican women with BC and to determine if ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01125-8
更新日期:2020-09-25 00:00:00
abstract:BACKGROUND:Sjogren-Larsson syndrome is a hereditary neurocutaneous syndrome that is non-progressive in nature. Although neuroregression has been reported in seizure-prone preschool children requiring anti-epileptic treatment, teenage-onset dystonia precipitating neurodegeneration without any immediate causal events has...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-018-0663-0
更新日期:2018-08-29 00:00:00
abstract:BACKGROUND:Left ventricular (LV) mass and wall thickness are closely associated with measures of body size and blood pressure and also correlated with systolic and diastolic function, suggesting a contribution of common physiologic mechanisms, including pleiotropic genes, to their covariation. METHODS:Doppler echocard...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-10-40
更新日期:2009-05-09 00:00:00
abstract:BACKGROUND:Platelet-derived growth factor (PDGF) D has been reported to be active in fibroblasts, and in areas of myocardial infarction. In this longitudinal study we evaluated the association between PDGF-D polymorphism and cardiovascular mortality, and attempted to discover whether specific genotype differences regar...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-016-0325-z
更新日期:2016-09-01 00:00:00
abstract:BACKGROUND:Cerebral folate deficiency (CFD) is a neurological disease, hallmarked by remarkable low concentrations of 5-methyltetrahydrofolic acid (5-MTHF) in cerebrospinal fluid (CSF). The primary causes of CFD include the presence of folate receptor (FR) autoantibodies, defects of FR encoding gene FOLR1, mitochondria...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01162-3
更新日期:2020-11-26 00:00:00
abstract:BACKGROUND:The number of genome-wide association studies (GWAS) is growing rapidly leading to the discovery and replication of many new disease loci. Combining results from multiple GWAS datasets may potentially strengthen previous conclusions and suggest new disease loci, pathways or pleiotropic genes. However, no dat...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-10-6
更新日期:2009-01-22 00:00:00
abstract:BACKGROUND:While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few cases have been described overlapping 17p13.3 duplications. METHODS:In this study, we report on clinica...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-0966-9
更新日期:2020-02-06 00:00:00
abstract:BACKGROUND:CHARGE syndrome is characterized by coloboma, heart defects, choanal atresia, growth retardation, genitourinary malformation and ear abnormalities. The chromodomain helicase DNA-binding protein 7 (CHD7) gene is the major cause of CHARGE syndrome and is inherited in an autosomal dominant manner. Currently, th...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0813-z
更新日期:2019-05-30 00:00:00
abstract:BACKGROUND:The Krüppel-like factor (KLF) family consists of transcription factors that can activate or repress different genes implicated in processes such as differentiation, development, and cell cycle progression. Moreover, several of these proteins have been implicated in glucose homeostasis, making them candidate ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-8-53
更新日期:2007-08-09 00:00:00
abstract:BACKGROUND:As cyclin-dependent kinase 5 (CDK5) has been implicated in the abnormal hyperphosphorylation of tau in Alzheimer's disease (AD) brain, and the development of neurofibrillary tangles, we examined the contribution of this gene to the susceptibility for AD. METHODS:We examined genetic variations of CDK5 by gen...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-10-68
更新日期:2009-07-17 00:00:00
abstract:BACKGROUND:Thalassemia is the most common inherited disease in the world, involving α- or β-globin in red blood cells. Thalassemia cases rank fifth in the list of national catastrophic diseases in Indonesia; however, nationwide screening for thalassemia carriers is not yet mandatory. This study aimed to assess whether ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0868-x
更新日期:2019-08-09 00:00:00
abstract:BACKGROUND:Disc degeneration (DD) is a common condition that progresses with aging. Although the events leading to DD are not well understood, a significant genetic influence has been found. This study was undertaken to assess the association between relevant candidate gene polymorphisms and moderate DD in a well-defin...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-12-153
更新日期:2011-11-22 00:00:00
abstract:BACKGROUND:Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene. CASE PRESENTATION:Family members underwent audiological and imaging evaluations, including pure tone audiometry ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-017-0511-7
更新日期:2017-12-19 00:00:00
abstract:BACKGROUND:Streptococcus pneumoniae (pneumococcus) is responsible for over one million deaths per year, with young children, the elderly and immunocompromised individuals being most at risk. Approximately half of East African children have been reported to be asymptomatic carriers of pneumococcus with invasive infectio...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-10-28
更新日期:2009-03-23 00:00:00
abstract:BACKGROUND:We explored the association of leucine-rich repeats and calponin homology domain containing 1 (LRCH1) gene polymorphisms with genetic susceptibility to delayed encephalopathy after acute carbon monoxide poisoning (DEACMP), which might provide a theoretical basis for the pathogenesis, diagnosis, and prognosis...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0931-7
更新日期:2019-12-16 00:00:00
abstract:BACKGROUND:In recent years, genome wide association studies have identified many genetic variants that are consistently associated with common complex diseases, but the amount of heritability explained by these risk alleles is still low. Part of the missing heritability may be due to genetic heterogeneity and small sam...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-015-0210-1
更新日期:2015-08-30 00:00:00
abstract:BACKGROUND:The Ser358Leu mutation in TMEM43, encoding an inner nuclear membrane protein, has been implicated in arrhythmogenic right ventricular cardiomyopathy (ARVC). The pathogenetic mechanisms of this mutation are poorly understood. METHODS:To determine the frequency of TMEM43 mutations as a cause of ARVC, we scree...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-13-21
更新日期:2012-03-29 00:00:00
abstract:BACKGROUND:Methylenetetrahydrofolate reductase (MTHFR) has a major impact on the regulation of the folic acid pathway due to conversion of 5,10-methylenetetrahydrofolate (methylene-THF) to 5-methyl-THF. Two common polymorphisms (677C>T and 1298A>C) in the gene coding for MTHFR have been shown to reduce MTHFR enzyme act...
journal_title:BMC medical genetics
pub_type: 杂志文章,多中心研究
doi:10.1186/1471-2350-6-23
更新日期:2005-05-27 00:00:00
abstract:BACKGROUND:Because they are a closed founder population, the Old Order Amish (OOA) of Lancaster County have been the subject of many medical genetics studies. We constructed four versions of Anabaptist Genealogy Database (AGDB) using three sources of genealogies and multiple updates. In addition, we developed PedHunter...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-68
更新日期:2010-05-02 00:00:00
abstract:BACKGROUND:Six asthma candidate genes, ADAM33, NPSR1, PHF11, DPP10, HLA-G, and CYFIP2, located at different chromosome regions have been positionally cloned following the reported linkage studies. For ADAM33, NPSR1, and CYFIP2, the associations with asthma or asthma-related phenotypes have been studied in East Asian po...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-10-123
更新日期:2009-12-01 00:00:00
abstract:BACKGROUND:Pendred syndrome is a common autosomal recessive disorder causing deafness. Features include sensorineural hearing impairment, goitre, enlarged vestibular aqueducts (EVA) and occasionally Mondini dysplasia. Hearing impairment and EVA may occur in the absence of goitre or thyroid dyshormonogensis in a conditi...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-14-85
更新日期:2013-08-21 00:00:00
abstract:BACKGROUND:The deficiency of vitamin D receptor (VDR) or its ligand, vitamin D3, is linked to the development of renal diseases. The TaqI (rs731236) and ApaI (rs7975232) polymorphisms of VDR gene are widely studied for their association with renal disease risk. However, studies have largely been ambiguous. METHODS:Met...
journal_title:BMC medical genetics
pub_type: 杂志文章,meta分析
doi:10.1186/s12881-019-0932-6
更新日期:2019-12-10 00:00:00
abstract:BACKGROUND:Damaging variants in TRIO have been associated with moderate to severe neurodevelopmental disorders in humans. While recent work has delineated the positional effect of missense variation on the resulting phenotype, the clinical spectrum associated with loss-of-function variation has yet to be fully defined....
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01159-y
更新日期:2020-11-10 00:00:00
abstract:BACKGROUND:The goal of this study was to review relevant case-control studies to determine the association of tumor necrosis factor-α (TNF-α) gene polymorphisms and coronary artery disease (CAD) susceptibility. METHODS:Using appropriate keywords, we identified relevant studies using PubMed, Cochrane, Embase, CNKI, VAN...
journal_title:BMC medical genetics
pub_type: 杂志文章,meta分析
doi:10.1186/s12881-020-0952-2
更新日期:2020-02-11 00:00:00