RESUMO
The 5α-reductase type 2 (SRD5A2) gene plays a significant role in the development of breast cancer. The V89L and TA repeat polymorphisms of the SRD5A2 gene have been considered as risk factors for breast cancer. However, the results have been inconsistent. To resolve this conflict, we performed a meta-analysis of studies with V89L (1144 patients and 808 controls) and with TA repeat genotyping (1952 cases and 1008 controls). The associations were evaluated by calculating odds ratios (ORs) and 95% confidence intervals (CIs). The result showed that there was no relationship between the V89L polymorphism of the SRD5A2 gene (V/V versus V/L + L/L genotypes) and breast cancer susceptibility (OR = 1.21; 95%CI = 0.99-1.47; P = 0.28). In addition, there was no difference between patients with breast cancer and healthy people in the distributions of the L allele (OR = 1.06; 95%CI = 0.75-1.49; P = 0.003). Similarly, no significant association between the SRDA5A2 TA repeat polymorphism and breast cancer risk was discovered. The comparison of (TA)0/(TA)0versus (TA)0/(TA)9 + (TA)9/(TA)9 genotypes found no difference in the risk of breast cancer (OR = 0.91; 95%CI = 0.66-1.25; P = 0.05). The OR for the (TA)0 versus (TA)9 allele was 0.89 (95%CI = 0.67-1.19). In conclusion, the V89L and TA repeat polymorphisms of SRD5A2 gene were found to have no significant associations with breast cancer risk.
Assuntos
3-Oxo-5-alfa-Esteroide 4-Desidrogenase/genética , Neoplasias da Mama/genética , Predisposição Genética para Doença , Proteínas de Membrana/genética , Alelos , Neoplasias da Mama/patologia , Repetições de Dinucleotídeos/genética , Feminino , Estudos de Associação Genética , Genótipo , Humanos , Fatores de RiscoRESUMO
Genetic variations in the human ß3-adrenoceptor (ß3-AR) gene are known to be involved in insufficient relaxation of the bladder muscle during urine storage. The Trp64Arg polymorphism in the ß3-AR gene has been found to be an important regulator of the development of overactive bladder (OAB). However, the association between this polymorphism and OAB remains controversial. Therefore, we conducted a meta-analysis to explore the association between the Trp64Arg polymorphism and OAB risk. We examined 2 case-control studies, including a total of 149 OAB cases and 270 healthy controls. The meta-analysis results showed that the Arg allele of the ß3-AR gene is positively associated with OAB susceptibility, while Arg allele carriers (Trp64Arg + Arg64Arg) showed positive associations with OAB. These results also demonstrated that the Trp64Arg polymorphism in the ß3-AR gene is involved in the pathogenesis of OAB.
Assuntos
Polimorfismo de Nucleotídeo Único , Receptores Adrenérgicos beta 3/genética , Bexiga Urinária Hiperativa/genética , Estudos de Casos e Controles , HumanosRESUMO
To evaluate the association between paired box 9 (PAX9) gene polymorphisms and tooth agenesis in isolated humans, we performed a comprehensive meta-analysis. We examined 6 case-control studies, with a total of 855 hypodontia cases and 1201 healthy controls. The G allele and G carrier (AG + GG) of A1031G were positively associated with hypodontia susceptibility. Similarly, the T allele and T carrier (CT + TT) of C912T and rs12881240 in the PAX9 gene also indicated an increased risk of hypodontia. In addition, the C allele and C carrier (CG + CC) of 718C, IVS2-109, rs4904210, and rs7143727 showed no significant association with oligodontia. The G allele and G carrier (AG + GG) of IVS2-41 in the PAX9 gene were not related factors. Interestingly, the genotype (AG + GG) of IVS2-54 in the PAX9 gene may be a protective factor for oligodontia (odds ratio = 0.21, 95% confidence interval = 0.07-0.63, P = 0.005). However, no significant differences were found in the allele frequency of IVS2-54 in the PAX9 polymorphism between controls and subjects with sporadic tooth agenesis. In conclusion, our meta-analysis results revealed 4 genetic sites of the PAX9 gene involved in hypodontia cases, of which 3 sites may be risk factors and 1 may have a protective role.
Assuntos
Anodontia/genética , Predisposição Genética para Doença , Fator de Transcrição PAX9/genética , Polimorfismo de Nucleotídeo Único/genética , Estudos de Casos e Controles , Estudos de Associação Genética , Humanos , Viés de Publicação , Fatores de RiscoRESUMO
We conducted a comprehensive meta-analysis of 4 case-control studies to explore the association between polymorphisms of Msh homeobox 1 (MSX1) and transforming growth factor-ß1 (TGF-ß1) genes and hypodontia. A total of 643 tooth agenesis cases and 733 healthy controls were included in this study. The meta-analysis results showed that the T allele and T carrier (CT + TT) of rs1095 in the MSX1 gene were positively associated with hypodontia susceptibility. However, the T allele and T carrier (TC + CC) of rs12532 and rs8670 showed no association with cancer susceptibility. In addition, there were no strong associations between the T allele and T carrier (CT + TT) of C509T and the A allele and A carrier (AG + AA) of G800A in the TGF-ß1 gene polymorphisms between patients with tooth agenesis and healthy subjects. In conclusion, these meta-analysis results demonstrated that polymorphisms in the rs1095 region of the MSX1 gene may influence the transcriptional activity of this gene and are associated with hypodontia in humans. However, the association between the TGF-ß1 gene and sporadic tooth agenesis is not well understood, and further studies are required to explore the correlation between the TGF-ß1 gene and hypodontia.
Assuntos
Anodontia/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Fator de Transcrição MSX1/genética , Polimorfismo de Nucleotídeo Único/genética , Fator de Crescimento Transformador beta1/genética , Humanos , Viés de PublicaçãoRESUMO
To examine whether urinary tract nerve growth factor (uNGF) could be a biomarker for overactive bladder (OAB) symptom, we conducted a comprehensive meta-analysis of 8 case-control studies. In all the studies considered, patients with OAB symptom had a higher uNGF level compared to healthy people. In addition, patients had a significantly lower uNGF level after successful treatment. In the subgroup analysis, we found that patients with OAB-wet symptom had a higher uNGF level than patients with OAB-dry symptom. However, no significant difference was found between patients with OAB symptom and patients with interstitial cystitis/painful bladder syndrome (IC/PBS) symptom in uNGF/Cr levels. In conclusion, uNGF level could be a useful biomarker for the diagnosis of OAB, a possible biomarker for differentiation between OAB subtypes (wet or dry), and a predictive biomarker for a specific treatment, but it cannot be used as the urinary biomarker for the differential diagnosis of IC/PBS and OAB.