RESUMEN
OBJECTIVES: To investigate whether genetic variants can be correlated with tendinopathy in elite male volleyball athletes. DESIGN: Case-control study. METHODS: Fifteen single nucleotide polymorphisms within BMP4, FGF3, FGF10, FGFR1 genes were investigated in 138 elite volleyball athletes, aged between 18 and 35 years, who undergo 4-5h of training per day: 52 with tendinopathy and 86 with no history of pain suggestive of tendinopathy in patellar, Achilles, shoulder, and hip abductors tendons. The clinical diagnostic criterion was progressive pain during training, confirmed by magnetic resonance image. Genomic DNA was obtained from saliva samples. Genetic markers were genotyped using TaqMan real-time PCR. Chi-square test compared genotypes and haplotype differences between groups. Multivariate logistic regression analyzed the significance of covariates and incidence of tendinopathy. RESULTS: Statistical analysis revealed participant age (p=0.005) and years of practice (p=0.004) were risk factors for tendinopathy. A significant association between BMP4 rs2761884 (p=0.03) and tendinopathy was observed. Athletes with a polymorphic genotype have 2.4 times more susceptibility to tendinopathy (OR=2.39; 95%CI=1.10-5.19). Also, association between disease and haplotype TTGGA in BMP4 (p=0.01) was observed. The FGF3 TGGTA haplotype showed a tendency of association with tendinopathy (p=0.05), and so did FGF10 rs900379. FGFR1 showed no association with disease. CONCLUSIONS: These findings indicate that haplotypes in BMP4 and FGF3 genes may contribute to the tendon disease process in elite volleyball athletes.
Asunto(s)
Proteína Morfogenética Ósea 4/genética , Factor 3 de Crecimiento de Fibroblastos/genética , Tendinopatía/genética , Voleibol/lesiones , Adulto , Estudios de Casos y Controles , Predisposición Genética a la Enfermedad , Haplotipos , Humanos , Masculino , Adulto JovenRESUMEN
It has been proposed that tooth agenesis and cancer development share common molecular pathways. We performed a cross-sectional study to investigate the epidemiological and molecular association between tooth agenesis and self-reported family history of cancer. Eighty-two individuals with tooth agenesis and 328 individuals with no birth defect were recruited from the same institution. Tooth agenesis was assessed in permanent teeth and was defined based on the age of the participants and when initial tooth formation should be radiographically visible. We also investigated the role of genes involved in dental development that have been implicated in tumorigenesis, and 14 markers in AXIN2, FGF3, FGF10, and FGFR2 were genotyped. Individuals with tooth agenesis had an increased risk of having a family history of cancer (p = 0.00006; OR = 2.7; 95% C.I., 1.6-4.4). There were associations between AXIN2, FGF3, FGF10, and FGFR2 with tooth agenesis [i.e., individuals who carried the polymorphic allele of FGFR2 (rs1219648) presented higher risk for having premolar agenesis (p = 0.02; OR = 1.8; 95% C.I., 1.1-3.0)]. In conclusion, tooth agenesis was associated with positive self-reported family history of cancer and with variants in AXIN2, FGF3, FGF10, and FGFR2. Prospective studies are needed to confirm if tooth agenesis can be used as a risk marker for cancer.
Asunto(s)
Anodoncia/genética , Neoplasias/genética , Alelos , Anodoncia/epidemiología , Proteína Axina/genética , Diente Premolar/anomalías , Brasil/epidemiología , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/genética , Estudios de Casos y Controles , Estudios Transversales , Estudios Epidemiológicos , Femenino , Factor 10 de Crecimiento de Fibroblastos/genética , Factor 3 de Crecimiento de Fibroblastos/genética , Variación Genética/genética , Genotipo , Humanos , Incisivo/anomalías , Masculino , Epidemiología Molecular , Neoplasias/epidemiología , Odontogénesis/genética , Polimorfismo Genético/genética , Neoplasias de la Próstata/epidemiología , Neoplasias de la Próstata/genética , Receptor Tipo 2 de Factor de Crecimiento de Fibroblastos/genética , Factores de Riesgo , AutoinformeRESUMEN
Interstitial duplications of 11q are very rare and seldom reported. In this paper we describe the first case of a duplication involving bands 11q11 and 11q12. This newly described patient has multiple craniosynostoses, congenital heart defect and developmental delay, and is a carrier of a mosaic duplication: 46,XY,dup(11)(q11-->q13.3)(29)/46,XY(6). The breakpoints were further delimited by comparative genomic hybridization microarray. We also performed fluorescent in situ hybridization analysis to determine the extension of the duplication in a patient described earlier with a duplication 11q13.5-q21. An overlapping region of less than 1.2 Mb was identified and included the duplication of genes FGF3 and FGF4 in both individuals. We discuss the possible implications of dosage effects of these genes in the onset of craniosynostosis.