scholarly journals Strong association of interleukin-6 −174G/C promoter single nucleotide polymorphism with a decreased risk of colorectal cancer in ethnic Kashmiri population: A case control study

Tumor Biology ◽  
2017 ◽  
Vol 39 (3) ◽  
pp. 101042831769594 ◽  
Author(s):  
Mujeeb Zafar Banday ◽  
Henah Mehraj Balkhi ◽  
Aga Syed Sameer ◽  
Nissar A Chowdri ◽  
Ehtishamul Haq
Keyword(s):  
Colorectal Cancer ◽  
Single Nucleotide Polymorphism ◽  
Cancer Risk ◽  
Confidence Interval ◽  
Interleukin 6 ◽  
Odds Ratio ◽  
Colorectal Cancer Risk ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Kashmiri Population

Chronic inflammation increases the risk of development of various cancers, including colorectal cancer. Interleukin-6 has been described as a key regulator of colorectal cancer development and is important in the process of colorectal tumorigenesis largely through the regulation of tumor-promoting inflammation. Several studies have reported the association of various polymorphisms in human interleukin-6 gene including IL-6 −174G/C single nucleotide polymorphism with various cancers, including colorectal cancer, but the results are mixed and inconclusive. The aim of this study was to analyze the association of IL-6 −174G/C promoter single nucleotide polymorphism with colorectal cancer risk and also to evaluate the modifying effects of possible IL-6 −174G/C single nucleotide polymorphism genotypes on different risk factors of colorectal cancer or the reciprocal effect in ethnic Kashmiri population through a case control setup. The genotype frequencies of IL-6 −174G/C promoter single nucleotide polymorphism were compared between 142 colorectal cancer patients and 184 individually matched healthy controls by using polymerase chain reaction–restriction fragment length polymorphism method. The association between the IL-6 −174G/C single nucleotide polymorphism and colorectal cancer risk was examined through conditional logistic regression models adjusted for multiple possible confounding (third) variables. The possible effect measure modification of the association between the relevant single nucleotide polymorphism genotypes and colorectal cancer risk by various colorectal cancer risk factors including age, gender, and smoking status was also evaluated. Furthermore, the associations between these single nucleotide polymorphisms and various clinicopathological parameters, demographic variables, and environmental factors within the case group subjects with regard to colorectal cancer risk were also analyzed. The overall association between the IL-6 −174G/C single nucleotide polymorphism and the modulation of colorectal cancer risk was found to be highly significant (p = 0.001). The variant genotype (CC) was significantly associated with a decreased risk of colorectal cancer (odds ratio, 0.15 (95% confidence interval, 0.04–0.54); p = 0.004). Furthermore, the less common IL-6-174C allele was associated with a decreased risk of colorectal cancer (odds ratio, 0.49 (95% confidence interval, 0.33–0.73); p = 0.0006). The combined variant genotype (GC + CC) was also significantly associated with a decreased risk of colorectal cancer (odds ratio, 0.54 (95% confidence interval, 0.33–0.89); p = 0.015). This study demonstrates that there is a strong and highly significant association between the IL-6 −174G/C promoter single nucleotide polymorphism and a decreased risk of colorectal cancer in ethnic Kashmiri population. However, in order to substantiate our findings, this study needs to be replicated with larger sample size and with other ethnically defined populations with comparable colorectal cancer incidence.

scholarly journals p16 gene silencing along with p53 single-nucleotide polymorphism and risk of esophageal cancer in Northeast India

Tumor Biology ◽  
2017 ◽  
Vol 39 (5) ◽  
pp. 101042831769838 ◽  
Author(s):  
Mandakini Das ◽  
Santanu Kumar Sharma ◽  
Gaganpreet Singh Sekhon ◽  
Jagadish Mahanta ◽  
Rup Kumar Phukan ◽  
...  
Keyword(s):  
Esophageal Cancer ◽  
Single Nucleotide Polymorphism ◽  
Cancer Risk ◽  
Confidence Interval ◽  
Odds Ratio ◽  
Northeast India ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
P16 Gene ◽  
Esophageal Carcinogenesis

The high incidence of esophageal cancer in Northeast India and the unique ethnic background and dietary habits provide a great opportunity to study the molecular genetics behind esophageal squamous cell carcinoma in this part of the region. We hypothesized that in addition to currently known environmental risk factors for esophageal cancer, genetic and epigenetic factors are also involved in esophageal carcinogenesis in Northeast India. Therefore, in this study, we explored the possible association between the two important G1 cell cycle regulatory genes p16 and p53 and environmental risk factors and risk of esophageal carcinogenesis. A total of 100 newly diagnosed esophageal cancer cases along with equal number of age-, sex-, and ethnicity-matched controls were included in this study. Methylation-specific polymerase chain reaction was used to determine the p16 promoter methylation status. Single-nucleotide polymorphism at codon 72 of p53 gene was assessed by the polymerase chain reaction-restriction fragment length polymorphism method. Aberrant methylation of p16 gene was seen in 81% of esophageal cancer cases. Hypermethylation of p16 gene was not found in healthy controls. p53 Pro/Pro genotype was found to be a risk genotype in Northeast India compared with Arg/Pro and Arg/Arg. p53 variant/polymorphism was significantly associated with esophageal cancer risk in the study population under all three genetic models, namely, dominant model (Arg/Pro + Pro/Pro vs Arg/Arg odds ratio = 2.25, confidence interval = 1.19–4.26; p = 0.012), recessive model (Arg/Arg + Arg/Pro vs Pro/Pro odds ratio = 2.35, confidence interval = 1.24–4.44; p = 0.008), and homozygous model (Pro/Pro vs Arg/Arg odds ratio = 3.33, confidence interval = 1.54–7.20; p = 0.002). However, p53 variant/polymorphism was not statistically associated with esophageal cancer risk under the heterozygous model (Pro/Pro vs Arg/Pro). In the case-only analysis based on p16 methylation, the p53 variant/polymorphism (Pro/Pro or Arg/Pro) showed significant association for esophageal cancer risk (odds ratio = 3.33, confidence interval = 1.54–7.20; p = 0.002). Gene–gene and gene–environment interaction using the case-only approach revealed a strong association between p16 methylation, p53 single-nucleotide polymorphism, and environmental factors and esophageal cancer risk. Cases with p16 methylation and p53 variant/polymorphism (Pro/Pro or Arg/Pro) along with both betel quid and tobacco chewing habit (odds ratio = 8.29, confidence interval = 1.14–60.23; p = 0.037) conferred eightfold increased risk toward esophageal cancer development. This study reveals a synergistic interaction between epigenetic, genetic, and environmental factors and risk of esophageal cancer in this high-incidence region of Northeast India. The inactivation of either p16 or p53 in a majority of esophageal cancer cases in this study suggests the possible crosstalk between the important cell cycle genes.

rs73185306 C/T Is Not a Predisposing Risk Factor for Inherited Chromosomally Integrated Human Herpesvirus 6A/B

2019 ◽  
Author(s):  
Annabelle Mouammine ◽  
Annie Gravel ◽  
Isabelle Dubuc ◽  
Yassamin Feroz Zada ◽  
Sylvie Provost ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Risk Factor ◽  
Confidence Interval ◽  
Odds Ratio ◽  
Human Herpesvirus ◽  
Chromosomal Integration ◽  
Nucleotide Polymorphism ◽  
Predisposing Factor ◽  
Single Nucleotide ◽  
Independent Cohort

Abstract Approximately 1% of people worldwide carry a copy of the human herpesvirus 6A or 6B (HHV-6A/B) in every cell of their body. This condition is referred to as inherited chromosomally integrated HHV-6A/B (iciHHV-6A/B). The mechanisms leading to iciHHV-6A/B chromosomal integration are yet to be identified. A recent report suggested that the rs73185306 C/T single-nucleotide polymorphism (SNP) represents a favorable predisposing factor leading to HHV-6A/B integration. After genotype analysis of an independent cohort (N = 11 967), we report no association between the rs73185306 C/T SNP and HHV-6A/B chromosomal integration (odds ratio, 0.90 [95% confidence interval, .54–1.51]; P = .69).

scholarly journals Variants of SMAD1 gene increase the risk of colorectal cancer in the Bangladeshi population

Tumor Biology ◽  
2020 ◽  
Vol 42 (9) ◽  
pp. 101042832095895
Author(s):  
Priyanka Florina Karmokar ◽  
Samia Shabnaz ◽  
Md. Abdul Aziz ◽  
Md. Asaduzzaman ◽  
Mohammad Shahriar ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Risk ◽  
Confidence Interval ◽  
Odds Ratio ◽  
Adjusted Odds Ratio ◽  
Dominant Model ◽  
Bonferroni Correction ◽  
Heterozygous Genotype ◽  
Single Nucleotide ◽  
Bangladeshi Population

Colorectal cancer is the fourth most common type of malignancy worldwide that may develop due to the accumulation of several genetic variations. Different single nucleotide polymorphisms of SMAD1 gene are assumed to be linked with increased colorectal cancer risk. The current case-control study was conducted to verify the association of genetic polymorphisms of SMAD1 (rs11100883 and rs7661162) with colorectal cancer in the Bangladeshi population. This study was performed on 275 colorectal cancer patients and 300 healthy volunteers using polymerase chain reaction–restriction fragment length polymorphism method. The odds ratios were adjusted for age and sex with logistic regression analysis. In case of SMAD1 rs11100883 polymorphism, GA heterozygous genotype, GA + AA (dominant model), and minor allele “A” were significantly associated with colorectal cancer (adjusted odds ratio = 1.55, 95% confidence interval = 1.09–2.20, p = 0.014; adjusted odds ratio = 1.59, 95% confidence interval = 1.13–2.23, p = 0.008; and odds ratio = 1.35, 95% confidence interval = 1.06–1.73, p = 0.015, respectively) and the significance exists after the Bonferroni correction. Again, single nucleotide polymorphism rs7661162 showed significant association with an elevated colorectal cancer risk for AG heterozygous genotype, AG + GG (dominant model), AG versus AA + GG (overdominant model), and minor allele “G” (adjusted odds ratio = 1.78, 95% confidence interval = 1.24–2.56, p = 0.002; adjusted odds ratio = 1.68, 95% confidence interval = 1.18–2.39, p = 0.004; adjusted odds ratio = 1.76, 95% confidence interval = 1.23–2.53, p = 0.002; and odds ratio = 1.47, 95% confidence interval = 1.08–2.00, p = 0.014, respectively) and significance withstands after the Bonferroni correction. No significant age and gender differences between cases and controls were observed. In silico, gene expression analysis showed that the SMAD1 mRNA level was downregulated in the colon and rectal cancer tissues compared to healthy tissues. In conclusion, our findings indicate that SMAD1 rs11100883 and rs7661162 polymorphisms are responsible for increasing the susceptibility of colorectal cancer development in the Bangladeshi population.

scholarly journals No Association between TERT-CLPTM1L Single Nucleotide Polymorphism rs401681 and Mean Telomere Length or Cancer Risk

2010 ◽  
Vol 19 (7) ◽  
pp. 1862-1865 ◽  
Author(s):  
Karen A. Pooley ◽  
Jonathan Tyrer ◽  
Mitul Shah ◽  
Kristy E. Driver ◽  
Jean Leyland ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Cancer Risk ◽  
Telomere Length ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

scholarly journals Association between rs12252 and influenza susceptibility and severity: an updated meta-analysis

2018 ◽  
Vol 147 ◽  
Author(s):  
T. Chen ◽  
M. Xiao ◽  
J. Yang ◽  
Y. K. Chen ◽  
T. Bai ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Odds Ratio ◽  
Meta Analysis ◽  
Strong Association ◽  
Dominant Model ◽  
Healthy Individuals ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Model C ◽  
Allelic Model

AbstractIn several lately published studies, the association between single-nucleotide polymorphism (SNP, rs12252) of IFITM3 and the risk of influenza is inconsistent. To further understand the association between the SNP of IFITM3 and the risk of influenza, we searched related studies in five databases including PubMed published earlier than 9 November 2017. Ten sets of data from nine studies were included and data were analysed by Revman 5.0 and Stata 12.0 in our updated meta-analysis, which represented 1365 patients and 5425 no-influenza controls from four different ethnicities. Here strong association between rs12252 and influenza was found in all four genetic models. The significant differences in the allelic model (C vs. T: odds ratio (OR) = 1.35, 95% confidence interval (CI) (1.03–1.79), P = 0.03) and homozygote model (CC vs. TT: OR = 10.63, 95% CI (3.39–33.33), P < 0.00001) in the Caucasian subgroup were discovered, which is very novel and striking. Also novel discoveries were found in the allelic model (C vs. T: OR = 1.37, 95% CI (1.08–1.73), P = 0.009), dominant model (CC + CT vs. TT: OR = 1.48, 95% CI (1.08–2.02), P = 0.01) and homozygote model (CC vs. TT: OR = 2.84, 95% CI (1.36–5.92), P = 0.005) when we compared patients with mild influenza with healthy individuals. Our meta-analysis suggests that single-nucleotide T to C polymorphism of IFITM3 associated with increasingly risk of severe and mild influenza in both Asian and Caucasian populations.

Sign in / Sign up

Export Citation Format

Share Document