Abstract:
BACKGROUND:Published studies present conflicting data regarding the impact of Thrombospondin-1 (TSP-1) expression on prognosis of various cancers. We performed this meta-analysis to illustrate the preliminary predictive value of TSP-1. METHODS:Twenty-four studies with a total of 2379 patients were included. A comprehensive literature search was performed by using PubMed, Cochrane Library, Web of Science, Embase, and hand searches were also conducted of relevant bibliographies. Pooled hazard ratios (HRs) with 95% confidence intervals (CIs) for patient survival and disease recurrence were initially identified to explore relationships between TSP-1 expression and patient prognosis. RESULTS:A total of 24 eligible studies were included in this meta-analysis. Our results showed that high level of TSP-1 was correlated significantly with poor overall survival (OS) (HR = 1.40, 95% CI: 1.17 ~ 1.68; P<0.001). However, high TSP-1 expression predicted no significant impact on progression-free survival (PFS)/ metastasis-free survival (MFS) (HR = 1.35, 95%CI: 0.87-2.10; P = 0.176) and disease-free survival (DFS)/ recurrence-free survival (RFS) (HR = 1.40, 95%CI: 0.77-2.53; P = 0.271). In addition, we performed subgroup analyses which showed that high TSP-1 expression predicted poor prognosis in breast cancer and gynecological cancer. Additionally, the relatively small number of studies on PFS/MFS and DFS/RFS is a limitation. The data extracted through Kaplan-Meier curves may not be accurate. Moreover, only English articles were included in this article, which may lead to deviations in the results. CONCLUSIONS:Our findings indicated high TSP-1 expression may act as a promising biomarker of poor prognosis in cancers, especially in breast cancer and gynecological cancer.
journal_name
BMC Med Genetjournal_title
BMC medical geneticsauthors
Sun S,Dong H,Yan T,Li J,Liu B,Shao P,Li J,Liang Cdoi
10.1186/s12881-020-01073-3subject
Has Abstractpub_date
2020-06-29 00:00:00pages
139issue
1issn
1471-2350pii
10.1186/s12881-020-01073-3journal_volume
21pub_type
杂志文章,meta分析abstract:BACKGROUND:The SDHD gene encodes a subunit of the mitochondrial tricarboxylic acid cycle enzyme and tumor suppressor, succinate dehydrogenase. Mutations in this gene show a remarkable pattern of parent-of-origin related tumorigenesis, with almost all SDHD-related cases of head and neck paragangliomas and pheochromocyto...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-014-0111-8
更新日期:2014-10-10 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:Ocular albinism type 1 (OA1) is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the retinal pigmented epithelium, foveal hypoplasia, macromelanosomes in pigmented skin and eye cells, and misrouting of the optical tracts. This disease is primari...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-7-41
更新日期:2006-04-28 00:00:00
abstract:BACKGROUND:Mitochondrial DNA (mtDNA) mutations account for at least 5% of cases of postlingual, nonsyndromic hearing impairment. Among them, mutation A1555G is frequently found associated with aminoglycoside-induced and/or nonsyndromic hearing loss in families presenting with extremely variable clinical phenotypes. Bio...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-8-81
更新日期:2007-12-21 00:00:00
abstract:BACKGROUND:The increasing number of available genotypes for genetic studies in humans requires more advanced techniques of analysis. We previously reported significant univariate associations between gene polymorphisms and antidepressant response in mood disorders. However the combined analysis of multiple gene polymor...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-5-27
更新日期:2004-12-09 00:00:00
abstract:BACKGROUND:MicroRNAs (miRNAs) are important small non-coding RNA molecules that regulate gene expression in cellular processes related to the pathogenesis of cancer. Genetic variation in miRNA genes could impact their synthesis and cellular effects and single nucleotide polymorphisms (SNPs) are one example of genetic v...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-015-0248-0
更新日期:2015-11-17 00:00:00
abstract:BACKGROUND:Preeclampsia can lead to adverse maternal and perinatal outcomes. There are few studies on the association of preeclampsia with thrombophilia in Africa including Sudan. METHODS:A case -controls study was conducted at Saad Abualila Hospital in Khartoum, Sudan during the period of February through November 20...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-018-0737-z
更新日期:2019-01-05 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:The bladder exstrophy-epispadias complex (BEEC) represents the severe end of the congenital uro-rectal malformation spectrum. Initial studies have implicated rare copy number variations (CNVs), including recurrent duplications of chromosomal region 22q11.21, in BEEC etiology. METHODS:To detect further CNVs,...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-016-0299-x
更新日期:2016-04-30 00:00:00
abstract:BACKGROUND:Telomere length, an indicator of ageing and longevity, has been correlated with several biomarkers of cardiometabolic disease in both Arab children and adults. It is not known, however, whether or not telomere length is a highly conserved inheritable trait in this homogeneous cohort, where age-related diseas...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-13-38
更新日期:2012-05-18 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:Neurofibromatosis type-1 (NF1) is caused by mutations of the NF1 gene at 17q11.2. In 95% of non-founder NF1 patients, NF1 mutations are identifiable by means of a comprehensive mutation analysis. 5-10% of these patients harbour microdeletions encompassing the NF1 gene and its flanking regions. NF1 is charact...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-13-98
更新日期:2012-10-26 00:00:00
abstract:BACKGROUND:DJ-1 forms part of the neuronal cellular defence mechanism against oxidative insults, due to its ability to undergo self-oxidation. Oxidative stress has been implicated in the pathogenesis of central nervous system damage in different neurodegenerative disorders including Alzheimer's disease and Parkinson's ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-10-105
更新日期:2009-10-13 00:00:00
abstract:BACKGROUND:Crohn's disease (CD) has the highest prevalence among individuals of Ashkenazi Jewish (AJ) descent compared to non-Jewish Caucasian populations (NJ). We evaluated a set of well-established CD-susceptibility variants to determine if they can explain the increased CD risk in the AJ population. METHODS:We recr...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-12-63
更新日期:2011-05-06 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:Mutations of EFNB1 cause the X-linked malformation syndrome craniofrontonasal syndrome (CFNS). CFNS is characterized by an unusual phenotypic pattern of inheritance, because it affects heterozygous females more severely than hemizygous males. This sex-dependent inheritance has been explained by random X-inac...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-98
更新日期:2010-06-17 00:00:00
abstract:BACKGROUND:E-selectin is implicated in various inflammatory processes and related disorders. We aimed to investigate the role of SELE-gene genotypes/haplotypes on plasma levels of MMP9 and sE-selectin in Taiwanese individuals. METHODS:Five hundred twenty individuals were enrolled. Seven tagging SELE single nucleotide ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-13-115
更新日期:2012-11-29 00:00:00
abstract:BACKGROUND:Hereditary non-syndromic hearing loss is the most common inherited sensory defect in humans. The KCNQ4 channel belongs to a family of potassium ion channels that play crucial roles in physiology and disease. Mutations in KCNQ4 underlie deafness non-syndromic autosomal dominant 2, a subtype of autosomal domin...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-017-0396-5
更新日期:2017-03-24 00:00:00
abstract:BACKGROUND:Southern China provinces have high incidence of thalassemia, however, sporadic cases can be found in northern China as well. METHODS:People resided in north China who were suspected to have thalassemia were detected mutations by gap-polymerase chain reaction (Gap-PCR) and reverse dot blot (RDB) analyses. Th...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0818-7
更新日期:2019-05-22 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:Hereditary spastic paraplegia is a heterogeneous group of clinically and genetically neurodegenerative diseases characterized by progressive gait disorder. Hereditary spastic paraplegia can be inherited in various ways, and all modes of inheritance are associated with multiple genes or loci. At present, more...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-020-01053-7
更新日期:2020-06-03 00:00:00
abstract:BACKGROUND:Observational studies and randomized trials have suggested that estrogens and/or progesterone may lower the risk for colorectal cancer. Inherited variation in the sex-hormone genes may be one mechanism by which sex hormones affect colorectal cancer, although data are limited. METHOD:We conducted a comprehen...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-12-78
更新日期:2011-05-31 00:00:00
abstract:BACKGROUND:The relationship between glucose-6-phosphate dehydrogenase (G6PD) deficiency and clinical phenomena such as primaquine-sensitivity and protection from severe malaria remains poorly defined, with past association studies yielding inconsistent and conflicting results. One possibility is that examination of a s...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-014-0093-6
更新日期:2014-09-09 00:00:00
abstract:BACKGROUND:Cryptic structural abnormalities within the subtelomeric regions of chromosomes have been the focus of much recent research because of their discovery in a percentage of people with mental retardation (UK terminology: learning disability). These studies focused on subjects (largely children) with various sev...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-5-21
更新日期:2004-08-13 00:00:00
abstract:BACKGROUND:Insulin secretion is enhanced upon the binding of Glucagon-like peptide-1 (GLP-1) to its receptor (GLP1R) in pancreatic β cells. Although a reduced expression of GLP1R in pancreatic islets from type 2 diabetic patients and hyperglycaemic rats has been established, it is still unknown if this is caused by dif...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-14-76
更新日期:2013-07-23 00:00:00
abstract:BACKGROUND:KCNH1 encodes a voltage-gated potassium channel that is predominantly expressed in the central nervous system. Mutations in this gene were recently found to be responsible for Temple-Baraitser Syndrome (TMBTS) and Zimmermann-Laband syndrome (ZLS). METHODS:Here, we report a new case of TMBTS diagnosed in a L...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-016-0304-4
更新日期:2016-06-10 00:00:00
abstract:BACKGROUND:Osteodysplasia of the oral and maxillofacial bone is generally accompanied by systemic bone abnormalities (such as short stature, joint contracture) or other systemic abnormalities (such as renal, dermatological, cardiovascular, optic, or hearing disorders). However, it does not always present this way. Rece...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0858-z
更新日期:2019-07-16 00:00:00
abstract:BACKGROUND:Argininosuccinic aciduria (ASAuria; OMIM 207900) is a rare autosomal recessive heterogeneous urea cycle disorder, which leads to the accumulation of argininosuccinic acid in the blood and urine. We aimed to perform genetic test to the patient and help clinician to diagnose precisely. CASE PRESENTATION:In th...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-016-0273-7
更新日期:2016-02-03 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:Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused by mutations in CREBBP and in EP300 genes in 50-60% and 8%, respectively. Up to now, 76 RSTS-EP300 patients have been described. We present the clinical and mol...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-018-0548-2
更新日期:2018-03-05 00:00:00