Search

Nogo proteins play an important role in the apoptosis of cells, especially in tumor cells. The present study was conducted to evaluate whether the TATC (rs71682980) and CAA (rs34917480) insertion/deletion polymorphisms of RTN4 3′-UTR are associated with clear cell renal cell carcinoma (ccRCC). These two polymorphisms were genotyped in 308 ccRCC patients and 466 healthy controls by polymerase chain reaction polyacrylamide gel electrophoresis (PCR-PAGE). Significantly reduced ccRCC risk was observed to be associated with the TATC genotype carriers (Versus TATC: adjusted OR 0.53, 95% CI 0.32-0.87, P = 0.022; Versus TATC: adjusted OR 0.57, 95% CI 0.36-0.92, P = 0.017). After performing stratification analysis, the frequency of TATC genotype was observed to be significantly higher in patients with N0 compared the patients with N1 ( P = 0.003). The present study provide evidence for the first time that the TATC insertion/deletion polymorphism in RTN4 3′-UTR may contributes to ccRCC risk in Chinese Han population. [ABSTRACT FROM AUTHOR]

Context: Sepsis is now the leading cause of death in the noncardiovascular intensive care unit (ICU). Objective: To investigate whether polymorphisms in IL21 gene contribute to sepsis susceptibility. Materials and methods: Three single-nucleotide polymorphisms of IL21 (rs907715, rs2055979, rs12508721) were genotyped by TaqMan assay in patients with sepsis and control subjects. Results: Polymorphisms rs2055979 and rs12508721 in IL21 were more frequent in sepsis patients compared to general population. But allele frequency of rs907715 was not significantly different between sepsis patients and control subjects. Conclusion: Polymorphisms in IL21 may be associated with sepsis risk. [ABSTRACT FROM AUTHOR]

Context: Interleukin-27 is a new member of the IL-12 family which plays an important role in human carcinogenesis. Objective: To investigate whether polymorphisms inIL27contribute to renal cell carcinoma (RCC) risk. Materials and methods: These two polymorphisms were genotyped in 329 RCC patients and 386 healthy controls by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: Significantly increased RCC risk was associated the G allele of both rs153109 and rs17855750 (rs153109:p = 0.006, OR = 1.364, 95%CI = 1.095–1.700; rs17855750:p = 0.001, OR = 1.768, 95%CI = 1.245–2.511). Conclusion: The present study provided evidence that rs153109 and rs17855750 were associated with increased risk for RCC, suggesting an important role IL-27 may play in nephrocarcinogenesis. [ABSTRACT FROM PUBLISHER]

Context: AXIN1 is a central component of Wnt signalling pathway which is essential for embryonic development. Objective: To investigate whether polymorphisms of AXIN1 contribute to ASD susceptibility. Materials and methods: Three tag SNPs (rs12921862, rs370681 and rs1805105) in AXIN1 were genotyped in 208 ASD patients and 302 healthy controls using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in a Chinese population. Results: Significantly increased ASD risk was observed to be associated with the A allele of rs12921862 ( p < 0.0001, OR = 3.096, 95% CI = 2.037-4.717). Increased ASD risk was observed to be associated with rs370681 in a codominant ( p = 0.043, OR = 1.52, 95% CI = 1.04-2.22) and overdominant model ( p = 0.016, OR = 1.57, 95% CI = 1.08-2.27). Conclusion: rs12921862 and rs370681 may contribute to ASD susceptibility. [ABSTRACT FROM AUTHOR]

Emerging evidence has demonstrated that polymorphisms of interleukin-1 (IL-1) may be involved in human tumorigenesis by regulating the production of this cytokine. Previous studies have investigated the association between two genetic variants (rs3783553 and rs17561) of IL1A and many diseases. The present study was conducted to evaluate whether these two variants are associated with cervical carcinoma (CC). These two polymorphisms were genotyped in 319 CC patients and 424 healthy controls by polymerase chain reaction polyacrylamide gel electrophoresis (PCR-PAGE) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Significantly reduced CC risk was observed to be associated with the insertion allele of rs3783553 (P=0.014, OR=0.71, 95% CI=0.57-0.88). Stratification analysis based on different certain clinical features showed that patients with the heterozygous genotype were associated with a reduced predisposition advancing to clinical stage II-III or developing non-squamous cell carcinoma. Furthermore, patients with the insertion homozygous genotype were also associated with a reduced risk to have a poor tumor differentiation. No significant association was observed between rs17561 and CC. The present study provided evidence that the rs3783553 in IL1A 3′-UTR is inversely associated with CC risk, suggesting an important role IL-1α may play in cervical carcinogenesis. [ABSTRACT FROM AUTHOR]

Abstract: Background: Common single nucleotide polymorphisms (SNPs) in pre-microRNAs may change their property through altering microRNAs (miRNAs) expression and/or maturation, resulting diverse functional consequences. We conducted a pilot study to test whether SNPs in pre-microRNAs were associated with dilated cardiomyopathy (DCM). Methods: Genotypes of 3 SNPs in pre-miRNAs (has-mir-196a2 rs11614913 C/T, hsa-mir-499 rs3746444 A/G, hsa-mir-146a rs2910164 C/G) in 221 DCM patients and 321 control subjects were determined with the use of PCR-restriction fragment length polymorphism (RFLP) assay. Results: Significantly increased DCM risks were found to be associated with variant allele of has-mir-196a2 rs11614913 C/T (T allele) and hsa-mir-499 rs3746444 A/G (G allele) (P <0.0001, OR=1.730, 95% CI=1.345–2.227, and P <0.0001, OR=1.794, 95% CI=1.350–2.385, respectively). We found that increased DCM risk was statistically significantly associated with these 2 SNPs in a dominant model (P =0.0001 and P <0.0001 for rs11614913 and rs3746444, respectively). No association between DCM risk and hsa-mir-146a rs2910164 C/G was observed (P =0.451, OR=1.102, 95% CI=0.856–1.418). Conclusions: Both the has-mir-196a2 rs11614913 C/T and hsa - mir - 499 rs3746444 A/G, but not hsa - mir - 146a rs2910164 C/G, are associated with a significantly increased risk of DCM, indicating that common genetic polymorphisms in pre-microRNAs are associated with DCM. [Copyright &y& Elsevier]