Assuntos
Carcinoma Pulmonar de Células não Pequenas/sangue , Carcinoma de Células Escamosas/sangue , Proteína de Ligação ao Complemento C4b/metabolismo , Glicoproteínas/sangue , Neoplasias Pulmonares/sangue , Proteína Amiloide A Sérica/metabolismo , Adulto , Idoso , Carcinoma Pulmonar de Células não Pequenas/diagnóstico , Carcinoma Pulmonar de Células não Pequenas/cirurgia , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/cirurgia , Feminino , Humanos , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/cirurgia , Masculino , Pessoa de Meia-Idade , Prognóstico , ProteômicaRESUMO
BACKGROUND: Excision repair cross complementing group 5 (ERCC5 or XPG) plays an important role in regulating DNA excision repair; its functional single nucleotide polymorphisms (SNPs) may alter DNA repair capacity and thus contribute to cancer risk. METHODOLOGY/PRINCIPAL FINDINGS: In a hospital-based case-control study of 1115 esophageal squamous cell carcinoma (ESCC) cases and 1117 cancer-free controls, we genotyped three potentially functional SNPs of ERCC5 (SNPs, rs2296147T>C, rs2094258C>T and rs873601G>A) and estimated crude and adjusted odds ratios (ORs) and 95% confidence intervals (CIs) for their associations with risk of ESCC using unconditional logistic regression models. We also calculated false-positive report probabilities (FPRPs) for significant findings. We found that compared with the TT genotype, ERCC5 rs2296147 C variant genotypes were associated with a significantly lower ESCC risk (CT: adjusted ORâ=â0.76, 95% CIâ=â0.63-0.93, CT/CC: adjusted ORâ=â0.80, 95% CIâ=â0.67-0.96); however, this risk was not observed for the other two SNPs (rs2094258C>T and rs873601 G>A), nor in further stratification and haplotype analysis. CONCLUSIONS/SIGNIFICANCES: These findings suggested that ERCC5 polymorphisms may contribute to risk of ESCC in Eastern Chinese populations, but the effect was weak and needs further validation by larger population-based case-control studies.
Assuntos
Carcinoma de Células Escamosas/genética , Proteínas de Ligação a DNA/genética , Endonucleases/genética , Neoplasias Esofágicas/genética , Haplótipos , Proteínas de Neoplasias/genética , Proteínas Nucleares/genética , Polimorfismo de Nucleotídeo Único , Fatores de Transcrição/genética , Idoso , Povo Asiático , Carcinoma de Células Escamosas/epidemiologia , Estudos de Casos e Controles , China , Neoplasias Esofágicas/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de RiscoRESUMO
In this research, PCR-SSCP technique was used to analyze the polymorphisms of the exon 11 of Nramp1 gene in Chinese Holstein cattle (n=344), and correlation between polymorphisms of Nramp1 with somatic cell score (SCS) and milk production traits was analyzed. The results show that three genotypes namely AA, BB, and AB were detected. Allele A was predominant and the frequencies of alleles A and B were estimated to be 0.767 and 0.233, respectively. Chi-square test indicated that the polymorphic locus in Chinese Holstein fitted Hardy-Weinberg equilibrium (P>0.05). Sequencing analysis showed two polymorphic sites at positions 200 bp (C/G) and 254 bp (T/G), which resulted in amino acid alteration Ala356Pro and Leu374Met. The least squares means of SCS in Holstein cattle was lower for genotype AA than that for genotypes AB and BB (P<0.05). The least squares means of milk yield of genotype AA and AB were higher than that for genotype BB (P<0.05, P<0.01, respectively). Genotype AA was beneficial to mastitis resistance. This suggested that Nramp1 may be a candidate gene responsible for mastitis in Holstein cattle.
