Abstract:
BACKGROUND:Tendinopathy pathogenesis is associated with inflammation. Regulatory T (Treg) cells contribute to early tissue repair through an anti-inflammatory action, with the forkhead box P3 (FOXP3) transcription factor being essential for Treg function, and the FC-receptor-like 3 (FCRL3) possibly negatively regulating Treg function. FCRL3 -169T>C and FOXP3 -2383C>T polymorphisms are located near elements that regulate respective genes expression, thus it was deemed relevant to evaluate these polymorphisms as risk factors for tendinopathy development in athletes. METHODS:This case-control study included 271 volleyball athletes (146 tendinopathy cases and 125 controls) recruited from the Brazilian Volleyball Federation. Genotyping analyses were performed using TaqMan assays, and the association of the polymorphisms with tendinopathy evaluated by multivariate logistic regression. RESULTS:Tendinopathy frequency was 63% patellar, 22% rotator cuff and 15% Achilles tendons respectively. Tendinopathy was more common in men (OR = 2.87; 95% CI = 1.67-4.93). Higher age (OR = 8.75; 95% CI = 4.33-17.69) and more years of volleyball practice (OR = 8.38; 95% CI = 3.56-19.73) were risk factors for tendinopathy. The FCRL3 -169T>C frequency was significantly different between cases and controls. After adjustment for potential confounding factors, the FCRL3 -169C polymorphism was associated with increased tendinopathy risk (OR = 1.44; 95% CI = 1.02-2.04), either considering athletes playing with tendon pain (OR = 1.98; 95% CI = 1.30-3.01) or unable to train due to pain (OR = 1.89; 95% CI = 1.01-3.53). The combined variant genotypes, FCRL3 -169TC or -169CC and FOXP3 -2383CT or -2383TT, were associated with an increased risk of tendinopathy among athletes with tendon pain (OR = 2.24; 95% CI: 1.14-4.40 and OR = 2.60; 95% CI: 1.11-6.10). The combined analysis of FCRL3 -169T>C and FOXP3 -2383C>T suggests a gene-gene interaction in the susceptibility to tendinopathy. CONCLUSIONS:FCRL3 -169C allele may increase the risk of developing tendinopathy, and together with knowledge of potential risk factors (age, gender and years playing) could be used to personalize elite athletes' training or treatment in combination with other approaches, with the aim of minimizing pathology development risk.
journal_name
BMC Med Genetjournal_title
BMC medical geneticsauthors
Salles JI,Lopes LR,Duarte MEL,Morrissey D,Martins MB,Machado DE,Guimarães JAM,Perini JAdoi
10.1186/s12881-018-0633-6subject
Has Abstractpub_date
2018-07-18 00:00:00pages
119issue
1issn
1471-2350pii
10.1186/s12881-018-0633-6journal_volume
19pub_type
杂志文章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:Autoimmune diseases with elevated circulating autoantibodies drive tissue damage and the onset of disease. The Fcγ receptors bind IgG subtypes modulating the clearance of circulating immune complexes (CIC). The inner ear damage in Ménière's disease (MD) could be mediated by an immune response driven by CIC. ...
journal_title:BMC medical genetics
pub_type: 杂志文章,多中心研究
doi:10.1186/1471-2350-12-2
更新日期:2011-01-05 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:Estrogen activity plays a critical role in bone homeostasis. The serum levels of sex hormone binding globulin (SHBG) influence free estrogen levels and activity on target tissues. The objective of this study was to analyze the influence of common polymorphisms of the SHBG gene on serum SHBG, bone mineral den...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-9-112
更新日期:2008-12-17 00:00:00
abstract:BACKGROUND:Hyaline fibromatosis syndrome (HFS) is a rare heritable multi-systemic disorder with significant dermatologic manifestations. It is caused by mutations in ANTXR2, which encodes a transmembrane receptor involved in collagen VI regulation in the extracellular matrix. Over 40 mutations in the ANTXR2 gene have b...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-018-0581-1
更新日期:2018-05-25 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:Ring chromosomes are one category of structurally abnormal chromosomes that can lead to severe growth retardation and other clinical defects. Traditionally, their diagnosis and characterization has largely relied on conventional cytogenetics and fluorescence in situ hybridization, array-based comparative gen...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-015-0206-x
更新日期:2015-07-30 00:00:00
abstract:BACKGROUND:Family-based cardiac screening programmes for persons at risk for genetic cardiac diseases are now recommended. However, the psychological wellbeing and health related quality of life (QoL) of such screened patients is poorly understood, especially in younger patients. We sought to examine wellbeing and QoL ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-14-1
更新日期:2013-01-08 00:00:00
abstract:BACKGROUND:Haemophagocytic lymphohistiocytosis is a life-threatening disease resulting from primary or secondary hyper-inflammatory disorders. The typical symptoms include persistent fever, splenomegaly, cytopenia and significant elevation of serum ferritin. CASE PRESENTATION:We report a 30-year-old Chinese female pat...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0765-3
更新日期:2019-02-19 00:00:00
abstract:BACKGROUND:Mitochondrial function is impaired in Parkinson's disease (PD) and may contribute to the pathogenesis of PD, but the causes of mitochondrial impairment in PD are unknown. Mitochondrial dysfunction is recapitulated in cell lines expressing mitochondrial DNA (mtDNA) from PD patients, implicating mtDNA variants...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-53
更新日期:2010-04-01 00:00:00
abstract:BACKGROUND:The possibilities in the molecular genetics of long QT syndrome (LQTS) and hypertrophic cardiomyopathy (HCM) has made family screening, with diagnostic and predictive genetic testing part of the health care offer in genetic counselling of inherited arrhythmias, potentially affecting the subjective health amo...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-27
更新日期:2010-02-17 00:00:00
abstract:BACKGROUND:Hereditary spherocytosis (HS) is a common type of hereditary hemolytic anemia. According to the current diagnostic criteria of HS, patients with a family history of HS, typical clinical features and laboratory investigations could be diagnosed without the requirement of any additional tests, including geneti...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-019-0826-7
更新日期:2019-05-24 00:00:00
abstract:BACKGROUND:The development of next-generation sequencing (NGS) technologies has a great impact in the human variation detection given their high-throughput. These techniques are particularly helpful for the evaluation of the genetic background in disorders of complex genetic etiology such as Hirschsprung disease (HSCR)...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-015-0235-5
更新日期:2015-10-05 00:00:00
abstract:BACKGROUND:The biosynthesis of estrogens from androgens is catalyzed by aromatase P450 enzyme, coded by the CYP19A1 gene on chromosome 15q21.2. Genetic variation within the CYP19A1 gene sequence has been shown to alter the function of the enzyme. The aim of this study is to investigate whether a non-synonymous Arg264Cy...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-12-165
更新日期:2011-12-20 00:00:00
abstract:BACKGROUND:Many hearing-loss diseases are demonstrated to have Mendelian inheritance caused by mutations in single gene. However, many deaf individuals have diseases that remain genetically unexplained. Auditory neuropathy is a sensorineural deafness in which sounds are able to be transferred into the inner ear normall...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-017-0400-0
更新日期:2017-03-23 00:00:00
abstract:BACKGROUND:Catechol-O-methyltransferase (COMT Val158Met) has been implicated in both depression and cardiovascular disease. The purpose of this study was to assess if COMT Val158Met, which influences the COMT enzyme activity, has an effect on the risk of cardiovascular disease (CVD) in individuals with a history of dep...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-018-0645-2
更新日期:2018-07-25 00:00:00
abstract:BACKGROUND:To determine association of nine single nucleotide polymorphisms (SNPs) in ADP ribosyltransferase-1 (ADPRT1), aldo-keto reductase family 1 member B1 (AKR1B1), receptor for advanced glycation end-products (RAGE), glutamine:fructose-6-phosphate amidotransferase-2 (GFPT2), and plasminogen activator inhibitor-1 ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-52
更新日期:2010-03-31 00:00:00
abstract:BACKGROUND:Inflammation is a response of body tissues to injury or irritation. Small RNAs, such as miR-146a and miR-499, participate in various processes of tumorigenesis. A recent study indicates that inflammation and abnormal immune responses may promote malignant progression in cancer development, indicating that in...
journal_title:BMC medical genetics
pub_type: 杂志文章,meta分析
doi:10.1186/s12881-014-0092-7
更新日期:2014-08-10 00:00:00
abstract:BACKGROUND:Congenital cataract is the leading cause of blindness in children worldwide. Approximately half of all congenital cataracts have a genetic basis. Protein aggregation is the single most important factor in cataract formation. METHODS:A four-generation Chinese family diagnosed with autosomal dominant congenit...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-018-0695-5
更新日期:2018-10-19 00:00:00
abstract:BACKGROUND:Glucocorticoids have an important role in early growth and development. Glucocorticoid receptor gene polymorphisms have been identified that contribute to the variability in glucocorticoid sensitivity. We examined whether these glucocorticoid receptor gene polymorphisms are associated with growth in fetal an...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-11-39
更新日期:2010-03-03 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:Genetic susceptibility plays a key role in the development of nasopharyngeal carcinoma (NPC) and in fact the disease presents with an unusually high incidence in certain regions of the world like North Africa. We investigated the association between polymorphism of the Transforming growth factor-β1 (TGF-β1) ...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-016-0337-8
更新日期:2016-10-12 00:00:00
abstract:BACKGROUND:Bone morphogenetic protein 4 gene (BMP4) plays a key role during maxillofacial development, since orofacial clefts are observed in animals when this gene is conditionally inactivated. We recently reported the existence of association between nonsyndromic cleft lip/palate (NSCLP) and BMP4 polymorphisms by det...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-12-163
更新日期:2011-12-19 00:00:00
abstract:BACKGROUND:Analyses of Expressed Sequence Tags (ESTs) databases suggest that most human genes have multiple alternative splice variants. The alternative splicing of pre-mRNA is tightly regulated during development and in different tissue types. Changes in splicing patterns have been described in disease states. Recentl...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-10-149
更新日期:2009-12-31 00:00:00
abstract:BACKGROUND:Although vitamin D receptor (VDR) polymorphisms have been shown to be associated with abnormal glucose metabolism, the reported polymorphisms are unlikely to have any biological consequences. The VDR gene has two potential translation initiation sites. A T-to-C polymorphism has been noted in the first ATG (f...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/1471-2350-2-2
更新日期:2001-01-01 00:00:00
abstract:BACKGROUND:Urolithiasis is a worldwide urological problem with significant contribution of genetic factors. Pakistan, which resides within the Afro-Asian stone belt, has a high reported prevalence (12%) of urolithiasis. Osteopontin (SPP1) is a urinary macromolecule with a suggested critical role in modulating renal sto...
journal_title:BMC medical genetics
pub_type: 杂志文章,meta分析
doi:10.1186/s12881-020-01101-2
更新日期:2020-08-25 00:00:00
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 comprehe...
journal_title:BMC medical genetics
pub_type: 杂志文章,meta分析
doi:10.1186/s12881-020-01073-3
更新日期:2020-06-29 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:In North African populations, G2019S mutation in LRRK2 gene, encoding for the leucine-rich repeat kinase 2, is the most prevalent mutation linked to familial and sporadic Parkinson's disease (PD). Early detection of G2019S by fast genetic testing is very important to guide PD's diagnosis and support patients...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-017-0432-5
更新日期:2017-07-06 00:00:00
abstract:BACKGROUND:Risk gene variants for celiac disease, identified in genome-wide linkage and association studies, might influence molecular pathways important for disease development. The aim was to examine expression levels of potential risk genes close to these variants in the small intestine and peripheral blood and also...
journal_title:BMC medical genetics
pub_type: 杂志文章
doi:10.1186/s12881-015-0190-1
更新日期:2015-06-30 00:00:00