Association between RNF41 gene c.-206 T > A genetic polymorphism and risk of congenital heart diseases in the Chinese Mongolian population.

This study aimed to explore the association between ring finger protein 41 (RNF41) c.-206 T > A variant and susceptibility to congenital heart disease (CHD) in the Chinese Mongolian population. The association between RNF41 gene c.-206 T > A polymorphism and CHD was examined in two independent case-control studies consisting of 219 CHD patients and 208 healthy controls. Genotype was determined by direct sequencing of PCR products. We found that the genotype frequencies of RNF41 c.-206 T > A differ significantly between the two groups (P < 0.05). The TT and TA genotypes in the CHD group were 80.67 and 19.33%, respectively. On the other hand, the frequencies of TT and TA in the control group were 94.44 and 5.56%, respectively. Furthermore, the allelic frequencies of CHD patients (T, 90.34%; A, 9.66%) were significantly different as compared with those of non-CHD controls (T, 97.22%; A, 2.78%; χ2 = 4.031, P = 0.041). Our study demonstrates that the RNF41 c.-206 T > A polymorphism may be a risk factor for congenital heart disease in the Chinese Mongolian population.

Meta-analysis of the relationship between slow acetylation of N-acetyl transferase 2 and the risk of bladder cancer.

The incidence of bladder cancer is closely associated with exposure to aromatic amines, that can cause cancer only after metabolic activation regulated by N-acetyl transferase 1 and 2 (NAT1 and NAT2). Many studies have indicated that slow acetylation of NAT2 increases the risk of bladder cancer. The major risk factor is tobacco smoke; however, some studies have failed to prove this. This study attempted to explore the correlation between NAT2 slow acetylation and bladder cancer risk through a meta-analysis of published case-control studies. Studies detecting NAT2 gene status in bladder cancer patients and healthy controls were retrieved from PubMed, Cochrane, EMchrane, CBM, and CNKI. We retrieved the data of cited articles and publications to identify and compare NAT2 gene in bladder cancer patients and healthy controls. The variables within and between the studies were also considered. The META module in the Stata v.6.0 software was used for data analysis. Twenty independent studies were enrolled in our meta-analysis according to the inclusion and exclusion criteria. Individual differences in the bladder cancer susceptibility were, in part, attributed to the effect of carcinogens. The merged odds ratio of the effect of slow acetylation on bladder cancer was 1.31 (95% confidence interval = 1.11-1.55). In conclusion, NAT2 slow acetylation state was associated with bladder cancer risk, and was shown to modestly increase the risk of bladder cancer.

Decreased levels of soluble receptor for advanced glycation end-products in aortic valve calcification patients.

The soluble receptor for advanced glycation end-products (sRAGE) shows a close relationship with atherosclerosis. The goal of this study was to compare the levels of sRAGE in patients with and without aortic valve calcification and to investigate the relationship between them. After transthoracic echocardiographic examination, 120 male patients with aortic valve calcification and 120 age-matched male controls without aortic valve calcification were included in our study. sRAGE levels were compared between groups. The prevalence of diabetes mellitus and coronary artery disease were significantly higher in the aortic valve calcification group than in the control group (63.3 versus 45%, P = 0.01, and 65 versus 51.7%, P < 0.01, respectively). The levels of sRAGE were lower in the aortic valve calcification group than in the control group (203.8 ± 34.6 versus 324.7 ± 41.6 pg/mL, P < 0.01). In multivariate analysis, age, coronary artery disease, and sRAGE levels were independent predictors of aortic valve calcification. Our study demonstrates that sRAGE, which was proven to be a potential marker of atherosclerosis, might have a role in the development of aortic valve calcification.