ABSTRACT
Colorectal cancer (CRC) is globally recognized as a prevalent malignancy known for its significant mortality rate. Recent years have witnessed a rising incidence trend in colorectal cancer, emphasizing the necessity for early diagnosis. Our study focused on examining the impact of the SMAD7 gene variant rs4939827 on the risk of colorectal cancer occurrence. The composition of our study group included 340 individuals, comprising 170 CRC diagnosed patients and 170 healthy controls. We performed genotyping of all biological samples using the TaqMan assay on the ABI 7500 Real-Time PCR System (Applied Biosystems, Waltham, MA, USA). This investigation focused on the rs4939827 gene variant, assessing its association with CRC risk and clinicopathological characteristics. Genotyping results for the SMAD7 gene variant rs4939827 revealed a 42.6% prevalence of the C allele in CRC patients (p = 0.245) and a 22.8% prevalence of the T allele in control subjects (p = 0.109). This study concluded that there was an elevated risk of CRC in the dominant model for CC/CT+TT, with a p-value of 0.113 and an odds ratio (OR) of 2.781, within a 95% confidence interval (CI) of 0.998 to 3.456. The findings of our research indicate a correlation between variants of the SMAD7 gene and the likelihood of developing colorectal cancer in our study population. Consequently, these results could be instrumental in facilitating early diagnosis of colorectal cancer utilizing information on single-nucleotide polymorphism (SNP) and genetic susceptibility to the disease.
ABSTRACT
The Roma population accounts for over 3% (approximately 10 to 15 million) of Romania's permanent population, and it represents one of Europe's most impoverished populations. Due to poverty and unemployment, Romania's Roma minority may have diminished access to healthcare and preventive medicine. The limited existing evidence suggests that the European Roma group has been at a higher risk of becoming ill and dying during the pandemic owing to their lifestyle choices, socioeconomic circumstances, and genetic pathophysiological traits. As a result, the purpose of the present research was to investigate the link between the inflammatory markers implicated and the clinical progression of COVID-19 in Roma patients who were brought to the intensive care unit. We considered 71 Roma patients admitted to the ICU with SARS-CoV-2 infection and 213 controls from the general population with the same inclusion criteria. The body mass index of patients was statistically significantly higher among Roma patients, with more than 57% being overweight, compared with 40.7% in the control group. Frequent smoking was more prevalent in patients of Roma ethnicity admitted to the ICU and the number of comorbidities. We observed a significantly higher proportion of severe imaging features at admission in the group of cases, although this difference may have been associated with the higher prevalence of smoking in this group. The mean duration of hospitalization was longer by 1.8 days than the control group. Elevated ESR levels were observed in 54.0% of Roma patients at admission, compared with 38.9% in the control group. Similarly, 47.6% of them had elevated CRP levels. IL-6 increased significantly at the time of ICU admission, similarly to the significant rise in the CRP levels, compared with the general population. However, the proportion of intubated patients and mortality did not differ significantly. On multivariate analysis, the Roma ethnicity significantly influenced the CRP (ß = 1.93, p-value = 0.020) and IL-6 (ß = 1.85, p-value = 0.044). It is necessary to plan different healthcare strategies aimed at special populations, such as the Roma ethnicity, to prevent the reduced disparities presented in in this study.
