ABSTRACT
Intervertebral disc disease is a multifactorial condition, yet disease pathogenesis that can be promoted by a single dominant mutation affecting the expression of susceptibility genes. We performed a case-control study to assess the influence of the COL9A2 Gln326Arg polymorphism on risk of intervertebral disc disease in a Chinese population. Between March 2014 and March 2015, a total of 215 patients and 230 healthy controls were recruited from Binzhou Medical University Hospital. Genotyping of COL9A2 Gln326Arg was carried out using polymerase chain reaction-restriction fragment length polymorphism. Univariate and multivariate logistic regression analyses revealed that the Arg/Arg genotype of COL9A2 Gln326Arg was associated with increased risk of intervertebral disc disease in comparison to the Gln/Gln genotype [crude odds ratio (OR) = 2.25, 95% confidence interval (CI) = 1.12-4.62; adjusted OR = 2.46, 95%CI = 1.20-5.29]. Moreover, the Arg/Arg genotype correlated with an elevated risk of this disease compared to the Gln/Gln + Gln/Arg genotypes (crude OR = 2.21, 95%CI = 1.17-4.30; adjusted OR = 2.42, 95%CI = 1.28-5.51). In conclusion, our results suggest that the COL9A2 Gln326Arg polymorphism contributes to the development of intervertebral disc disease in the Chinese population.
Subject(s)
Asian People/genetics , Collagen Type IX/genetics , Intervertebral Disc Degeneration/genetics , Intervertebral Disc Displacement/genetics , Mutation , Adult , Arginine/genetics , Case-Control Studies , Female , Genetic Predisposition to Disease , Glutamine/genetics , Humans , Male , Middle AgedABSTRACT
We investigated the associations between Beclin-1 and microRNA-30a (miR-30a) expression and the severity and treatment response in colorectal cancer (CRC). Our sample size consisted of 139 CRC patients who were treated with surgery alone. Immunohistochemistry was used to investigate the expression and prognostic significance of Beclin-1 in CRC, while the weak expression of Beclin-1 in normal tissue was used as the basis for assessing tumors (control group). Real-time reverse transcription-polymerase chain reaction quantified miR-30a levels. The expression levels of Beclin-1 and miR-30a were associated with clinical variables and prognoses. Beclin-1 was expressed more highly in CRC tissues than in controls. This expression was related to gender (P = 0.023), histological grade (P = 0.006), M stage (P = 0.004), tumor node metastasis stage (P = 0.020), vascular invasion, and nodal involvement. Patients with higher Beclin-1 expression levels had higher survival rates (P = 0.08) than patients with lower Beclin-1 expression levels. Beclin-1 was a prognostic indicator (P < 0.05) in a multivariate analysis. Beclin-1 was overexpressed in CRC tissues and was correlated with lower levels of miR-30a (P < 0.05, r = -0. 4189). In conclusion, Beclin-1 was a good prognostic indicator in CRC and was correlated with survival rate. Beclin-1 is important in the growth and metastasis of CRC. Apoptosis in CRC might be due to the increased autophagy induced by decreased levels of miR-30a.