scholarly journals Evaluation of gene-environment interactions for colorectal cancer susceptibility loci using case-only and case-control designs

BMC Cancer ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Nan Song ◽  
Jeeyoo Lee ◽  
Sooyoung Cho ◽  
Jeongseon Kim ◽  
Jae Hwan Oh ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Risk ◽  
Protective Factors ◽  
Risk Allele ◽  
Cancer Susceptibility ◽  
Case Control ◽  
Regular Exercise ◽  
Susceptibility Loci ◽  
Gene Environment ◽  
Regular Aspirin

Abstract Background Genome-wide association studies (GWAS) have identified more than 40 colorectal cancer susceptibility loci, but only a small fraction of heritability was explained. To account for missing heritability, we investigated gene-environment interactions (G × Es) between GWAS-identified single-nucleotide polymorphisms (SNPs) and established risk or protective factors for colorectal cancer using both case-only and case-control study designs. Methods Data on 703 colorectal cancer cases and 1406 healthy controls from the National Cancer Center in Korea were used. We tested interactions between 31 GWAS-identified SNPs and 13 established risk or protective factors for colorectal cancer (family history, body mass index, history of colorectal polyps, inflammatory bowel disease, and diabetes mellitus, alcohol drinking, smoking, regular exercise, regular aspirin use, postmenopausal hormone replace therapy, red meat and processed meat intake, and dairy consumption). Logistic regression models were used to assess G × Es for colorectal cancer risk. Results The SNP rs4444235 at 14q22.2 interacted with regular exercise in colorectal cancer (pcase-only = 2.4 × 10− 3, pcase-control = 1.5 × 10− 3). The risk allele (C) of rs4444235 increased the risk of colorectal cancer in regularly exercising individuals (OR = 1.47, 95% CI = 1.02–2.10) but decreased the risk in non-exercising individuals (OR = 0.76, 95% CI = 0.62–0.94). Furthermore, the G × E between the SNP rs2423279 at 20p12.3 and regular aspirin use was statistically significant (pcase-only = 7.7 × 10− 3, pcase-control = 1.6 × 10− 3). The additive effect of the risk allele (T) of rs2423279 on colorectal cancer risk was increased among regular aspirin users (OR = 4.62, 95% CI = 1.97–10.80). Conclusion Our results suggest that SNP rs4444235 at 14q22.2 and SNP rs2423279 at 20p12.3 may interact with regular exercise and aspirin use in colorectal carcinogenesis.

scholarly journals Gene–Environment Interaction Involving Recently Identified Colorectal Cancer Susceptibility Loci

2014 ◽  
Vol 23 (9) ◽  
pp. 1824-1833 ◽  
Author(s):  
Elizabeth D. Kantor ◽  
Carolyn M. Hutter ◽  
Jessica Minnier ◽  
Sonja I. Berndt ◽  
Hermann Brenner ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Susceptibility ◽  
Environment Interaction ◽  
Susceptibility Loci ◽  
Gene Environment Interaction ◽  
Gene Environment

scholarly journals Characterization of Gene–Environment Interactions for Colorectal Cancer Susceptibility Loci

2012 ◽  
Vol 72 (8) ◽  
pp. 2036-2044 ◽  
Author(s):  
Carolyn M. Hutter ◽  
Jenny Chang-Claude ◽  
Martha L. Slattery ◽  
Bethann M. Pflugeisen ◽  
Yi Lin ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Susceptibility ◽  
Susceptibility Loci ◽  
Gene Environment

scholarly journals New insights of the correlation between AXIN2 polymorphism and cancer risk and susceptibility: evidence from 72 studies

BMC Cancer ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Xi Li ◽  
Yiming Li ◽  
Guodong Liu ◽  
Wei Wu
Keyword(s):  
Linkage Disequilibrium ◽  
Cancer Risk ◽  
Risk Allele ◽  
Cancer Susceptibility ◽  
Case Control ◽  
Dominant Model ◽  
Case Control Studies ◽  
Contrast Model ◽  
Different Populations ◽  
Allele Contrast

Abstract Background Numerous studies have reported the correlation between AXIN2 polymorphism and cancer risk, but the results seem not consistent. In order to get an overall, accurate and updated results about AXIN2 polymorphism and cancer risk, we conducted this study. Methods An updated analysis was performed to analyze the correlation between AXIN2 polymorphisms and cancer risk. Linkage disequilibrium (LD) analysis was also used to show the associations. Results Seventy-two case-control studies were involved in the study, including 22,087 cases and 18,846 controls. The overall results showed rs11079571 had significant association with cancer risk (allele contrast model: OR = 0.539, 95%CI = 0.478–0.609, PAdjust = 0.025; homozygote model: OR = 0.22, 95% CI = 0.164–0.295, PAdjust< 0.001; heterozygote model: OR = 0.292, 95% CI = 0.216–0.394, PAdjust< 0.001; dominant model: OR = 0.249, 95% CI = 0.189–0.33, PAdjust< 0.001). The same results were obtained with rs1133683 in homozygote and recessive models (PAdjust< 0.05), and in rs35285779 in heterozygote and dominant models (PAdjust< 0.05). LD analysis revealed significant correlation between rs7210356 and rs9915936 in the populations of CEU, CHB&CHS, ESN and JPT (CEU: r2 = 0.91; CHB&CHS: r2 = 0.74; ESN: r2 = 0.62, JPT: r2 = 0.57), and a significant correlation between rs9915936 and rs7224837 in the populations of CHB&CHS, ESN and JPT (r2>0.5), between rs7224837 and rs7210356 in the populations of CEU, CHB&CHS, JPT (r2>0.5), between rs35435678 and rs35285779 in the populations of CEU, CHB&CHS and JPT (r2>0.5). Conclusions AXIN2 rs11079571, rs1133683 and rs35285779 polymorphisms have significant correlations with overall cancer risk. What’s more, two or more polymorphisms such as rs7210356 and rs9915936, rs9915936 and rs7224837, rs7224837 and rs7210356, rs35435678 and rs35285779 have significant correlation with cancer susceptibility in different populations.

scholarly journals Association of Polymorphisms in Vitamin D-Metabolizing Enzymes DHCR7 and CYP2R1 with Cancer Susceptibility: A Systematic Review and Meta-Analysis

2021 ◽  
Vol 2021 ◽  
pp. 1-11
Author(s):  
Jing Wen ◽  
Jia Li ◽  
Xinyuan Liang ◽  
Aiping Wang
Keyword(s):  
Colorectal Cancer ◽  
Vitamin D ◽  
Cancer Risk ◽  
Lower Risk ◽  
Cancer Susceptibility ◽  
Meta Analysis ◽  
Case Control ◽  
Increase Cancer Risk ◽  
Exclusion Criteria ◽  
Metabolizing Enzymes

The deficiency of vitamin D has been reported to be relevant to cancer risk. DHCR7 and CYP2R1 are crucial components of vitamin D-metabolizing enzymes. Thus, accumulating researchers are concerned with the correlation between polymorphisms of DHCR7 and CYP2R1 genes and cancer susceptibility. Nevertheless, the conclusions of literatures are inconsistent. We conducted an integrated review for the correlation of DHCR7 and CYP2R1 SNPs with cancer susceptibility. In the meanwhile, a meta-analysis was performed using accessible data to clarify the association between DHCR7 and CYP2R1 SNPs and overall cancer risk. Literatures which meet the rigid inclusion and exclusion criteria were involved. The association of each SNP with cancer risk was calculated by odds ratios (ORs). 12 case-control designed studies covering 23780 cases and 27307 controls were ultimately evolved in the present meta-analysis of five SNPs (DHCR7 rs12785878 and rs1790349 SNP; CYP2R1 rs10741657, rs12794714, and rs2060793 SNP). We found that DHCR7 rs12785878 SNP was significantly related to cancer risk in the whole population, Caucasian subgroup, and hospital-based (HB) subgroup. DHCR7 rs1790349 SNP was analyzed to increase cancer risk in Caucasians. Moreover, CYP2R1 rs12794714-A allele had correlation with a lower risk of colorectal cancer. Our findings indicated that rs12785878, rs1790349, and rs12794714 SNPs might potentially be biomarkers for cancer susceptibility.

scholarly journals Association Between Colorectal Cancer Susceptibility Loci and Survival Time After Diagnosis With Colorectal Cancer

2012 ◽  
Vol 143 (1) ◽  
pp. 51-54.e4 ◽  
Author(s):  
Amanda I. Phipps ◽  
Polly A. Newcomb ◽  
Xabier Garcia–Albeniz ◽  
Carolyn M. Hutter ◽  
Emily White ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Survival Time ◽  
Cancer Susceptibility ◽  
Susceptibility Loci

Colorectal cancer susceptibility loci and influence on survival

2018 ◽  
Vol 57 (12) ◽  
pp. 630-637 ◽  
Author(s):  
Nan Song ◽  
Kyeezu Kim ◽  
Aesun Shin ◽  
Ji Won Park ◽  
Hee Jin Chang ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Susceptibility ◽  
Susceptibility Loci

scholarly journals Relevance of hMLH1 -93G>A, 655A>G and 1151T>A polymorphisms with colorectal cancer susceptibility: a meta-analysis based on 38 case-control studies

2018 ◽  
Vol 64 (10) ◽  
pp. 942-951 ◽  
Author(s):  
Mohammad Zare ◽  
Jamal Jafari-Nedooshan ◽  
Mohammadali Jafari ◽  
Hossein Neamatzadeh ◽  
Seyed Mojtaba Abolbaghaei ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cancer Susceptibility ◽  
Meta Analysis ◽  
Asian Population ◽  
Case Control ◽  
Biomedical Literature ◽  
Case Control Studies ◽  
Increased Risk ◽  
Comprehensive Search ◽  
Meta Analyses

SUMMARY OBJECTIVE: There has been increasing interest in the study of the association between human mutL homolog 1 (hMLH1) gene polymorphisms and risk of colorectal cancer (CRC). However, results from previous studies are inconclusive. Thus, a meta-analysis was conducted to derive a more precise estimation of the effects of this gene. METHODS: A comprehensive search was conducted in the PubMed, EMBASE, Chinese Biomedical Literature databases until January 1, 2018. Odds ratio (OR) with 95% confidence interval (CI) was used to assess the strength of the association. RESULTS: Finally, 38 case-control studies in 32 publications were identified met our inclusion criteria. There were 14 studies with 20668 cases and 19533 controls on hMLH1 −93G>A, 11 studies with 5,786 cases and 8,867 controls on 655A>G and 5 studies with 1409 cases and 1637 controls on 1151T>A polymorphism. The combined results showed that 655A>G and 1151T>A polymorphisms were significantly associated with CRC risk, whereas −93G>A polymorphism was not significantly associated with CRC risk. As for ethnicity, −93G>A and 655A>G polymorphisms were associated with increased risk of CRC among Asians, but not among Caucasians. More interestingly, subgroup analysis indicated that 655A>G might raise CRC risk in PCR-RFLP and HB subgroups. CONCLUSION: Inconsistent with previous meta-analyses, this meta-analysis shows that the hMLH1 655A>G and 1151T>A polymorphisms might be risk factors for CRC. Moreover, the −93G>A polymorphism is associated with the susceptibility of CRC in Asian population.

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