Abstract:
BACKGROUND:This meta-analysis was conducted to assess the relationship between the transforming growth factor-beta 1 (TGF-β1) + 869 T/C gene polymorphism, + 915 G/C gene polymorphism, and the susceptibility of acute rejection in the recipients with renal transplantation. METHODS:Relevant studies were searched and identified from the Cochrane Library and PubMed, and eligible investigations were recruited and data were calculated by meta-analysis. RESULTS:In this study, we found no relationship between either TGF-β1 + 869 T/C or TGF-β1 + 915 G/C gene polymorphism and acute rejection susceptibility in patients with renal transplantation. No association between either gene polymorphism and acute rejection susceptibility in patients with renal transplantation in Caucasian, Asian, or African populations individually was found. CONCLUSION:The TGF-β1 + 869 T/C and + 915 G/C gene polymorphisms are not associated with acute rejection susceptibility in recipients with renal transplantation.
journal_name
BMC Med Genetjournal_title
BMC medical geneticsauthors
Li HY,Zhou T,Lin S,Lin Wdoi
10.1186/s12881-019-0847-2subject
Has Abstractpub_date
2019-06-25 00:00:00pages
113issue
1issn
1471-2350pii
10.1186/s12881-019-0847-2journal_volume
20pub_type
杂志文章,meta分析,评审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:Human prion diseases are relentlessly progressive neurodegenerative disorders which include sporadic Creutzfeldt-Jakob disease (sCJD) and variant CJD (vCJD). Aside from variants of the prion protein gene (PRNP) replicated association at genome-wide levels of significance has proven elusive. A recent associat...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-016-0278-2
更新日期:2016-04-07 00:00:00
abstract:BACKGROUND:Prostate cancer is a heterogeneous disease, meaning patients would benefit from different treatment strategies based on their molecular stratification. In recent years, several genomic studies have identified prostate cancers with defects in DNA repair genes. It is known that the PARP inhibitor, olaparib, ha...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-018-0703-9
更新日期:2018-10-17 00:00:00
abstract:BACKGROUND:Unbalanced chromosomal translocations may present with a variety of clinical and laboratory findings and provide insight into the functions of genes on the involved chromosomal segments. CASE PRESENTATION:A 9 year-old boy presented to our clinic with Factor VII deficiency, microcephaly, a seizure disorder, ...
journal_title:BMC medical genetics
pub_type: 杂志文章,评审
doi:10.1186/1471-2350-7-2
更新日期:2006-01-13 00:00:00
abstract:BACKGROUND:Some Hirschsprung's disease (HSCR) patients showed persistent bowel symptoms following an appropriately performed pull-through procedure. The mechanism is presumed to be down-regulated small-conductance calcium-activated potassium channel 3 (SK3) expression in the HSCR ganglionic intestines. We aimed to inve...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-018-0539-3
更新日期:2018-02-13 00:00:00
abstract:BACKGROUND:Previous studies indicated a strong association between hyperkalemia and lung squamous cell carcinomas (LSCC). However, the underlying mechanism is not fully understood so far. METHODS:Literature-based data mining was conducted to identify genes, molecule, and cell processes linked to both hyperkalemia and ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01099-7
更新日期:2020-10-22 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:Osteopoikilosis is a rare autosomal dominant genetic disorder, characterised by the occurrence of the hyperostotic spots preferentially localized in the epiphyses and metaphyses of the long bones, and in the carpal and tarsal bones 1. Heterozygous LEMD3 gene mutations were shown to be the primary cause of th...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-110
更新日期:2010-07-09 00:00:00
abstract:BACKGROUND:Hereditary hemorrhagic telangiectasia (HHT) is a vascular multi-organ system disorder. Its diagnostic criteria include epistaxis, telangiectases in mucocutaneous sites, arteriovenous malformations (AVMs), and familial inheritance. HHT is transmitted as an autosomal dominant condition, caused in 85% of cases ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-017-0380-0
更新日期:2017-02-23 00:00:00
abstract:BACKGROUND:The lectin-like oxidized LDL receptor LOX-1 (encoded by OLR1) is believed to play a key role in atherogenesis and some reports suggest an association of OLR1 polymorphisms with myocardial infarction (MI). We tested whether single nucleotide polymorphisms (SNPs) in OLR1 are associated with clinically signific...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-9-23
更新日期:2008-04-02 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: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:L. braziliensis causes cutaneous (CL) and mucosal (ML) leishmaniasis. Wound healing neutrophil (PMN) and macrophage responses made following the bite of the vector sand fly contribute to disease progression in mice. To look at the interplay between PMN and macrophages in disease progression in humans we aske...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-10
更新日期:2010-01-20 00:00:00
abstract:BACKGROUND:Amyloidoses are a heterogeneous group of progressive diseases caused by tissue deposition of misfolded proteins. According to the International Classification of Diseases, hereditary amyloidosis is divided into neuropathic and non-neuropathic forms. In Sweden, neuropathic heredofamilial amyloidosis has been ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-14-88
更新日期:2013-09-03 00:00:00
abstract:BACKGROUND:The platelet P2Y12 receptor plays a key role in platelet activation. The H2 haplotype of the P2Y12 receptor gene (P2RY12) has been found to be associated with maximal aggregation response to adenosine diphosphate (ADP) and with increased risk for peripheral arterial disease. No data are available on its asso...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-8-59
更新日期:2007-09-05 00:00:00
abstract:BACKGROUND:Intervertebral disc degeneration (IVDD) is an age-related degenerative disease, presenting with low back pain or radicular pain. The inflammatory changes would occur in discs in the process of IVDD. Therefore, the inflammatory and anti-inflammatory cytokines, as well as their respective genes, have been prop...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01081-3
更新日期:2020-07-03 00:00:00
abstract:BACKGROUND:This study aimed to assess the association between 14 single nucleotide polymorphisms (SNPs) in six genes (IRF8, TMEM39A, IKZF3, ORMDL3, GSDMB, and ZPBP2) and systemic lupus erythematosus (SLE) in a Chinese Han population sample. METHODS:We carried out a case-control study of 415 patients with SLE and 470 h...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-017-0405-8
更新日期:2017-04-20 00:00:00
abstract:BACKGROUND:The complement component (3b/4b) receptor 1 gene (CR1) gene has been proved to affect the susceptibility of Alzheimer's disease (AD) in different ethnic and districts groups. However, the effect of CR1 genetic variants on amyloid β (Aβ) metabolism of AD human is still unclear. Hence, the aim of this study wa...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01114-x
更新日期:2020-09-12 00:00:00
abstract:BACKGROUND:Sequence variants in genes functioning in folate-mediated one-carbon metabolism are hypothesized to lead to changes in levels of homocysteine and DNA methylation, which, in turn, are associated with risk of cardiovascular disease. METHODS:330 SNPs in 52 genes were studied in relation to plasma homocysteine ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-12-150
更新日期:2011-11-21 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:Mutation analysis of KIT and PDGFRA genes in gastrointestinal stromal tumors is gaining increasing importance for prognosis of GISTs and for prediction of treatment response. Several groups have identified specific mutational subtypes in KIT exon 11 associated with an increased risk of metastatic disease whe...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-106
更新日期:2010-07-04 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
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:Single Nucleotide Polymorphisms (SNPs) identified in Genome Wide Association Studies (GWAS) have generally moderate association with related complex diseases. Accordingly, Multilocus Genetic Risk Scores (MGRSs) have been computed in previous studies in order to assess the cumulative association of multiple S...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-015-0186-x
更新日期:2015-06-25 00:00:00
abstract:BACKGROUND:Int22h1/int22h2-mediated Xq28 duplication syndrome is caused by ~0.5 Mb chromosomal duplications mediated by nonallelic homologous recombination between intron 22 homologous region 1 (int22h1) and 2 (int22h2), which, in addition to int22h3, are also responsible for inversions disrupting the F8 gene in hemoph...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-015-0157-2
更新日期:2015-03-14 00:00:00
abstract:BACKGROUND:Type 2 diabetes mellitus is increasing dramatically in sub-Saharan Africa, and genetic predisposition is likely involved in that. Yet, genetic variants known to confer increased susceptibility among Caucasians are far from being established in African populations. In Ghanaian adults, we examined associations...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-14-96
更新日期:2013-09-23 00:00:00
abstract:BACKGROUND:FANCM and RECQL have recently been reported as breast cancer susceptibility genes and it has been suggested that they should be included on gene panel tests for breast cancer predisposition. However, the clinical value of testing for mutations in RECQL and FANCM remains to be determined. In this study, we ha...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-018-0524-x
更新日期:2018-01-19 00:00:00
abstract:BACKGROUND:Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly disposition and intermittent neutropenia. VPS13B (vacuolar protein ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-017-0493-5
更新日期:2017-11-17 00:00:00
abstract:BACKGROUND:We report a large family with four successive generations, presenting with a complex phenotype of severe congenital neutropenia (SCN), partially penetrant monocytosis, and hearing loss of varying severity. METHODS:We performed whole exome sequencing to identify the causative variants. Sanger sequencing was ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-0971-z
更新日期:2020-02-17 00:00:00
abstract:BACKGROUND:Asthma genetics has been extensively studied and many genes have been associated with the development or severity of this disease. In contrast, the genetic basis of allergic rhinitis (AR) has not been evaluated as extensively. It is well known that asthma is closely related with AR since a large proportion o...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-14-51
更新日期:2013-05-10 00:00:00