RESUMO
Hepatocellular carcinoma (HCC) is a major cause of cancer-related deaths worldwide. MicroRNA-34 (miR-34) gene plays a key role in altering the apoptotic cycle and pathways of downstream cells, and therefore influences carcinogenesis. In this case-control study, we assessed the role of the pri-miR-34b/c rs4938723 polymorphism in HCC risk. The pri-miR-34b/c polymorphic genotype was determined in 286 patients with HCC and 572 controls using polymerase chain reaction-restriction fragment length polymorphism. The male gender (X2 = 12.95, P < 0.001), regular alcohol consumption (X2 = 16.81, P < 0.001), and a family history of cancer (X2 = 11.88, P = 0.001) were associated with HCC risk. However, the age (t = 1.19, P = 0.12) and tobacco smoking habit (X2 = 0.64, P = 0.42) of HCC patients were comparable to those of the controls. The TC (adjusted OR = 1.46, 95%CI = 1.06-2.01) and CC (adjusted OR = 3.07, 95%CI = 1.77-5.34) genotypes of pri-miR-34b/c rs4938723 were correlated with a higher risk of HCC compared to the TT genotype. Moreover, the TC+CC genotype was correlated with an increased risk of HCC compared to the TT genotype (adjusted OR = 1.64, 95%CI = 1.21-2.22). In the recessive model, the CC genotype of pri-miR-34b/c rs4938723 was significantly correlated with an elevated risk of HCC compared to the TT+TC genotype (adjusted OR = 2.50, 95%CI = 1.49-4.22). Further large-scale and multi-center studies are required to confirm these results.
Assuntos
Carcinoma Hepatocelular/genética , Estudos de Associação Genética , Predisposição Genética para Doença , MicroRNAs/genética , Polimorfismo de Nucleotídeo Único/genética , Regiões Promotoras Genéticas , Estudos de Casos e Controles , Demografia , Feminino , Humanos , Neoplasias Hepáticas/genética , Masculino , MicroRNAs/metabolismo , Pessoa de Meia-Idade , Fatores de RiscoRESUMO
Myocardial infarction (MI) is currently a leading cause of death worldwide, and is caused by various environmental and genetic factors. We therefore conducted a case-control study to investigate the association between polymorphisms in interleukins IL-1ß, IL-8, and IL-10 and MI risk. This study recruited 260 MI patients and 285 control subjects. Genotyping of IL-1ß +3954C/T, IL-8 -251T/A, IL-10 -1082A/G, and IL-10 -819C/T were assessed using the polymerase chain reaction-restriction fragment length polymorphism method. By comparing the risk factors of MI between the case and control groups, we discovered that MI patients were more likely to have smoking and drinking habits, have a history of hypertension and diabetes, have higher triglycerides and low-density lipoprotein cholesterol levels, and a lower high-density lipoprotein cholesterol level (P < 0.05). Unconditional regression analyses showed that subjects carrying the GG genotype of the IL-10 -1082A/G polymorphism were associated with increased risk of MI, and the OR (95%CI) was 2.04 (1.15-3.65). Our study found that the IL-10 -1082A/G polymorphism plays an important role in influencing the development of MI.
Assuntos
Interleucinas/genética , Infarto do Miocárdio/genética , Polimorfismo de Nucleotídeo Único , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Polimorfismo de Fragmento de RestriçãoRESUMO
This study aimed to screen single nucleotide polymorphisms (SNPs) in the chicken gap junction protein alpha 1 (GJA1) gene, and to investigate their association with five growth traits measured in 269 chickens encompassing Chinese indigenous Beijing-You (BJY) and commercial Cobb broiler (CB) populations. Four variants were detected in the chicken GJA1 gene, in which one synonymous mutation was located in an exon (C61223231T or c.-1110 C>T), two in an intron (A61229799C or c.5460 A>C, T61229928A or c.5589 T>A) and one in the promoter (A61230599C or c. 6260 A>C) regions. Genotyping was performed by high-resolution melting analysis (SNP in an exon) and DNA sequencing (SNP in the introns and promoter). Association analysis revealed that each SNP had a significant effect on growth traits in chicken. A higher level of genetic diversity was observed in the indigenous BJY breed than in the commercial CB breed. Strong linkage disequilibrium was observed between the C61223231T and A61229799C polymorphisms, and four previously undiscovered haplotypes (CA, TC, CC, TA) were constructed from those two mutations. Association analysis between haplotype combinations (diplotypes) and growth traits was highly significant where diplotype CC + CC was dominant for all traits. We speculated that GJA1 either is a major gene, or is associated with a major gene, affecting chicken growth traits. Therefore, further studies are needed in large populations to evaluate polymorphisms located in different regions of this gene, as well as its functional study, to better understand its role in muscle development in chicken.
Assuntos
Peso Corporal/genética , Galinhas/genética , Conexina 43/genética , Músculo Esquelético/metabolismo , Polimorfismo de Nucleotídeo Único , Característica Quantitativa Herdável , Animais , Cruzamento , Galinhas/crescimento & desenvolvimento , Galinhas/metabolismo , Éxons , Feminino , Expressão Gênica , Estudos de Associação Genética , Técnicas de Genotipagem , Haplótipos , Íntrons , Desequilíbrio de Ligação , Masculino , Músculo Esquelético/crescimento & desenvolvimento , Fenótipo , Regiões Promotoras Genéticas , Análise de Sequência de DNARESUMO
The insulin growth factor 1/phosphatase and tensin homologue deleted on chromosome 10/Akt/forkhead box (IGF-1/PTEN/Akt/FoxO) signaling pathway reportedly exhibits gastroprotective effects by reducing water immersion and restraint stress (WRS)-induced gastric mucosal cell apoptosis. We examined the expression and localization of IGF-1, PTEN, Akt, and FoxO proteins, caspase-3 activity, and the number of apoptotic cells in the duodenal mucosa of rats subjected to WRS to confirm whether the IGF-1/PTEN/Akt/FoxO signaling pathway has a role in the duodenal mucosa. The results indicated that WRS enhanced cell apoptosis in the duodenal mucosa. In addition, in normal rats, PTEN was found mainly in the cellular cytoplasm of the duodenal glands and lamina propria of villi. IGF-1 and total Akt were observed in the cellular cytoplasm of the duodenal glands. In addition, total Akt was found in the cellular cytoplasm of the myenteric plexus. FoxO3a and FoxO4 were primarily concentrated in the cellular cytoplasm of the lamina propria. Specifically, PTEN, FoxO3a and FoxO4 were also localized in the cellular cytoplasm of lamina propria of restituted villi in the duodenal mucosa of rat subjected to WRS. In addition, messenger RNA transcript levels of IGF-1, PTEN, Akt1, Akt2, FoxO3, and FoxO4 were upregulated in the duodenal mucosa, with a peak between the 4th and 8th day after 7 h of WRS. Furthermore, the results also suggested that Akt3 messenger RNA transcript levels in the duodenal mucosa of rats after WRS showed no significant differences compared with those in the non-WRS group. Collectively, our results implied that the IGF-1/ PTEN/Akt/FoxO signaling pathway was effective in regulating cellular apoptosis in the duodenal mucosa of rats after WRS.