ABSTRACT
It is well recognized that the inflammatory bowel disease (IBD) is associated with an increased risk of colorectal cancer (CRC). More susceptibility IBD genes have been reported, NOD2 being one of the most extensively investigated. The aim of this study was to evaluate a possible correlation between NOD2 rs2066844 C>T (also known as Arg702Trp or R702W) variant and CRC risk in a Romanian population. A total of 373 Romanian subjects (108 patients diagnosed with sporadic CRC and 265 controls) were enrolled in this hospital-based case-control study. The NOD2 R702W variants were detected by Real-time PCR using a predesigned TaqMan Genotyping Assay. The association between the genetic risk variant and CRC was expressed as odds ratios (OR) with 95% confidence intervals (CI). We did not find any statistically significant difference when we compared CC genotype with CT genotype (OR 1.1, 95% CI: 0.46-2.61; p=0.83) between CRC patients and controls. No TT homozygous genotype was detected. Also, we compared allele frequencies and no correlation was found (OR 1.09, 95% CI: 0.47-2.56; p=0.84). No association was found in the stratified analysis by tumor site, Dukes' stage and histological subtype. Our study suggests that the NOD2 R702W variant is not associated with CRC risk in the Romanian population. Further data from different and larger populations is required to determine whether NOD R702W SNP has effects on susceptibility to CRC.
ABSTRACT
PURPOSE: The aim of this study was to assess the frequency of a key autophagy gene ATG5 rs2245214 C/G polymorphism in a Romanian volunteer cohort, as there are no data regarding an Eastern European population. MATERIAL/METHODS: DNA was extracted from peripheral blood of 105 Romanian unrelated volunteers. The ATG5 rs2245214 C/G polymorphism was genotyped by Real-Time PCR using allelic discrimination TaqMan assay. RealTime PCR was performed on a ViiA™ 7 Real Time PCR System. Hardy-Weinberg equilibrium of allele frequencies at individual loci was assessed using the Chi-squared test. RESULTS: The genotype frequencies in controls were distributed in accordance with Hardy-Weinberg equilibrium (χ² = 1.07; p = 0.3). We found CC genotype in 53 subjects (50.48 %), CG genotype in 40 (38.10 %) and GG genotype in 12 subjects (11.42 %).The G risk allele was found in 52 individuals, and the frequency of the minor G allele was 0.3. CONCLUSION: This is the first report on a Romanian population regarding the frequency of the ATG5 gene rs2245214 polymorphism. Our results are slightly different to the distribution pattern from other Caucasian populations and larger studies including various ethnic groups are required.
ABSTRACT
Upon the invasion of the host by microorganisms, innate immunity is triggered through pathogen recognition by pattern recognition receptors (PRRs). Toll-like receptors (TLRs) are the best-studied class of PRRs, and they recognize specific pathogen-associated molecular patterns (PAMPs) from various microorganisms. A large number of studies have shown that genetic variation in TLRs may influence susceptibility to infections. We assessed the genetic variation of TLR2, which encodes one of the most important TLRs, in various populations around the globe and correlated it with changes in the function of the molecule. The three best-known nonsynonymous TLR2 polymorphisms (1892C>A, 2029C>T, and 2258G>A) were assessed in different populations from the main continental masses: Romanians, Vlax-Roma, Dutch (European populations), Han Chinese (East Asia), Dogon, Fulani (Africa), and Trio Indians (America). The 2029C>T polymorphism was absent in both European and non-European populations, with the exception of the Vlax-Roma, suggesting that this polymorphism most likely arose in Indo-Aryan people after migration into South Asia. The 1892C>A polymorphism that was found exclusively in European populations, but not in Asian, African, or American volunteers, probably occurred in proto-Indo-Europeans. Interestingly, 2258G>A was present only in Europeans, including Vlax-Roma, but at a very low frequency. The differential pattern of the TLR2 polymorphisms in various populations may explain some of the differences in susceptibility to infections between these populations.
