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van Nguyen, S., Shamoun, L., Landerholm, K., Wågsäter, D. & Dimberg, J. (2024). Association of Clinicopathological Factors With MMP13 (rs2252070) Gene Polymorphism in Swedish Patients With Colorectal Cancer. In Vivo, 38(4), 1775-1782
Open this publication in new window or tab >>Association of Clinicopathological Factors With MMP13 (rs2252070) Gene Polymorphism in Swedish Patients With Colorectal Cancer
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2024 (English)In: In Vivo, ISSN 0258-851X, E-ISSN 1791-7549, Vol. 38, no 4, p. 1775-1782Article in journal (Refereed) Published
Abstract [en]

Background/Aim: Matrix metalloproteinase 13 (MMP13) has been reported to be involved in tumor development and progression, including of colorectal cancer (CRC). This study aimed at evaluating whether the MMP13 rs2252070 gene polymorphism is associated with clinicopathological factors and its influence on long-term survival in Swedish patients with CRC.

Patients and Methods: A total of 723 patients with CRC were genotyped using TaqMan single nucleotide polymorphism assays based on polymerase chain reaction.

Results: Assessing clinicopathological factors, we demonstrated that having the G/G genotype for MMP13 rs2252070 was significantly associated with poor differentiation, higher serum level of carcinoembryonic antigen and higher lymph node status. Moreover, the presence of a G allele was significantly related to larger tumor size in rectal cancer but had a significantly protective role against mucinous cancer, perineural invasion and lymphovascular invasion. Kaplan-Meier analysis showed no difference between genotypes regarding cancer-specific survival.

Conclusion: Our findings highlight the potential of MMP13 rs2252070 polymorphism as a useful predictor of poor differentiation, serum level of carcinoembryonic antigen, lymph node status, tumor size, mucinous cancer, perineural invasion and lymphovascular invasion in patients with CRC. 

Place, publisher, year, edition, pages
International Institute of Anticancer Research, 2024
Keywords
clinical parameters, colorectal cancer, MMP13, SNP, Adult, Aged, Aged, 80 and over, Alleles, Biomarkers, Tumor, Carcinoembryonic Antigen, Colorectal Neoplasms, Female, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, Humans, Kaplan-Meier Estimate, Male, Matrix Metalloproteinase 13, Middle Aged, Neoplasm Staging, Polymorphism, Single Nucleotide, Prognosis, Sweden, collagenase 3, MMP13 protein, human, tumor marker, allele, antigen blood level, Article, cancer patient, cancer prevention, cancer specific survival, clinical feature, colorectal adenocarcinoma, controlled study, DNA polymorphism, follow up, genetic association, genotyping, histopathology, human, human tissue, long term survival, lymph node, lymph vessel metastasis, major clinical study, perineural invasion, polymerase chain reaction, single nucleotide polymorphism, Swedish citizen, tumor differentiation, tumor volume, very elderly, blood, cancer staging, colorectal tumor, epidemiology, genetic association study, genetic predisposition, genetics, Kaplan Meier method, mortality, pathology
National Category
Cancer and Oncology
Identifiers
urn:nbn:se:hj:diva-65694 (URN)10.21873/invivo.13628 (DOI)001266321000027 ()38936942 (PubMedID)2-s2.0-85197118136 (Scopus ID)GOA;;963051 (Local ID)GOA;;963051 (Archive number)GOA;;963051 (OAI)
Funder
Futurum - Academy for Health and Care, Jönköping County Council, Sweden, Futurum-970572, Futurum-989025
Available from: 2024-07-18 Created: 2024-07-18 Last updated: 2024-07-22Bibliographically approved
Dimberg, J., Shamoun, L., Johansson, G., Landerholm, K. & Wågsäter, D. (2024). Emerging role and clinical implication of mRNA scavenger decapping enzyme in colorectal cancer. Pathology, Research and Practice, 253, Article ID 155009.
Open this publication in new window or tab >>Emerging role and clinical implication of mRNA scavenger decapping enzyme in colorectal cancer
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2024 (English)In: Pathology, Research and Practice, ISSN 0344-0338, E-ISSN 1618-0631, Vol. 253, article id 155009Article in journal (Refereed) Published
Abstract [en]

BACKGROUND: Turnover of RNA is a regulated process that in part controls gene expression. This process is partly controlled by the scavenger decapping enzyme (DcpS). This study aimed to investigate the expression of DcpS in colorectal cancer (CRC) tissue, to evaluate its prognostic significance in patients with CRC and to investigate potentially targeted genes by DcpS.

METHODS: Immunohistochemical analysis was used to determine localization of DcpS in normal and CRC tissue, western blot analysis for quantification of protein expression and qPCR for mRNA expression in normal and CRC tissue and expression in cell lines after silencing using siRNA. Gene array analysis was used to study regulation of genes after silencing of DcpS. Proliferation was studied using BRDU.

RESULTS: DcpS expression was localized to the epithelial cells of both control and cancer tissue. Tumor and paired control tissue samples from 100 patients who underwent surgical resection for primary colorectal adenocarcinomas were utilized. mRNA and protein of DcpS was significantly up-regulated in the patients with CRC and the mRNA level was higher in rectal cancer tissue compared to colon cancer tissue (p < 0.05). Lowest tertile levels of DcpS mRNA in cancer tissue was associated with a decreased cancer-specific survival rate with a hazard ratio (HR) of 4.7 (95% CI=1.02-12.3), independent of disease stage. The low level of DcpS mRNA was a predictor of poorer survival in patients with rectal and disseminated cancer and in patients receiving adjuvant treatment (p < 0.05). After silencing DcpS in Caco-2 cancer cells, altered expression of several genes associated with RNA, cell cycle regulation, alternative splicing and microRNA was observed and resulted in 23% increase in proliferation.

CONCLUSIONS: These results indicate that DcpS has potential as a prognostic factor for CRC but further studies in a broader cohort are warranted to evaluate the significance of the findings in the clinic.

Place, publisher, year, edition, pages
Elsevier, 2024
Keywords
Biomarker, Cancer specific survival, Pathways, Prognostic factor, Silencing
National Category
Cancer and Oncology
Identifiers
urn:nbn:se:hj:diva-63214 (URN)10.1016/j.prp.2023.155009 (DOI)001138946600001 ()38064867 (PubMedID)2-s2.0-85179166290 (Scopus ID)HOA;;924788 (Local ID)HOA;;924788 (Archive number)HOA;;924788 (OAI)
Available from: 2024-01-08 Created: 2024-01-08 Last updated: 2025-06-09Bibliographically approved
Dimberg, J., Shamoun, L., af Geijerstam, K., Landerholm, K. & Wågsäter, D. (2024). Significance of Gene Polymorphism and Gene Expression of BACE2 in Swedish Patients with Colorectal Cancer. Oncology, 103(1), 48-55
Open this publication in new window or tab >>Significance of Gene Polymorphism and Gene Expression of BACE2 in Swedish Patients with Colorectal Cancer
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2024 (English)In: Oncology, ISSN 0030-2414, E-ISSN 1423-0232, Vol. 103, no 1, p. 48-55Article in journal (Refereed) Published
Abstract [en]

Introduction: β-site amyloid precursor protein (APP) cleaving enzyme 2 (BACE2) cleaves APP which is ubiquitously expressed in a variety of cell types including cancer cells. BACE2 can process APP in several ways and appears to be involved in the pathogenesis of cancer. Our purpose was to assess the association of mRNA expression and genetic polymorphism of BACE2 in colorectal cancer (CRC) susceptibility and its association to clinicopathological factors in Swedish patients with CRC.

Methods: A total of 720 CRC patients and 470 healthy controls were genotyped for BACE2 gene polymorphism rs2012050, using TaqMan single nucleotide polymorphism (SNP) assays based on polymerase chain reaction. Reverse transcription quantitative PCR was used to investigate the BACE2 gene expression in 192 CRC tissue and 181 paired normal tissue.

Results: Assessing clinicopathological factors, we noted that carrying of T allele in C/T and C/T+T/T was significantly associated with a protective role against disseminated cancer and higher lymph node status. Moreover, individuals carrying T/T genotype were significantly more likely to have poorly differentiated cancer. Follow-up data for patients in poorly differentiated cancer and the Kaplan-Meier analysis showed that the cancer-specific survival curves differed between C/C and C/T+T/T for the BACE2 gene polymorphism and that the carriers of the genotype C/C were associated with more favorable prognosis. We found no significant differences in the genotypic frequencies between the patients and healthy controls. BACE2 mRNA level was significantly 2.2-fold upregulated in CRC tissue when compared to noncancerous tissue. A higher BACE2 mRNA level was observed in smaller tumors and in rectal cancer when compared to colon cancer.

Conclusion: In patients with CRC, our results indicate BACE2 rs2012050 as a useful potential predictor of poor differentiation, disseminated cancer and lymph node status and that the BACE2 mRNA expression is associated to tumor size and cancer location.

Place, publisher, year, edition, pages
S. Karger, 2024
Keywords
BACE2, Single nucleotide polymorphism, Colorectal cancer, Clinical parameters
National Category
Cancer and Oncology
Identifiers
urn:nbn:se:hj:diva-66081 (URN)10.1159/000540887 (DOI)001371336800001 ()39217971 (PubMedID)HOA;;1894061 (Local ID)HOA;;1894061 (Archive number)HOA;;1894061 (OAI)
Funder
Futurum - Academy for Health and Care, Jönköping County Council, Sweden, Futurum-970572, Futurum-989025
Available from: 2024-09-02 Created: 2024-09-02 Last updated: 2025-01-12Bibliographically approved
Nguyen, S. V., Shamoun, L., Landerholm, K., Wågsäter, D. & Dimberg, J. (2023). Clinicopathological and prognostic value of CD44 gene polymorphism (rs187115) in Swedish patients with colorectal cancer. Nucleosides, Nucleotides & Nucleic Acids, 42(10), 807-817
Open this publication in new window or tab >>Clinicopathological and prognostic value of CD44 gene polymorphism (rs187115) in Swedish patients with colorectal cancer
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2023 (English)In: Nucleosides, Nucleotides & Nucleic Acids, ISSN 1525-7770, E-ISSN 1532-2335, Vol. 42, no 10, p. 807-817Article in journal (Refereed) Published
Abstract [en]

Cluster of differentiation (CD) 44 plays a crucial role in apoptosis, cell-cell interactions, angiogenesis, metastasis and proliferation. The aim of the present study was to examine the influence of CD44 gene polymorphism rs187115 on colorectal cancer (CRC) susceptibility and the association with various clinical features including long-term survival in Swedish patients with CRC. Genotypes were screened, using TaqMan single nucleotide polymorphism (SNP) assays based on polymerase chain reaction, in 612 CRC patients and 575 healthy controls.

The carriers of G allele, genotypes (AG + GG), were found to be associated with an increased risk of CRC with an odds ratio (OR) of 1.35 (95% confidence interval (CI) = 1.01-1.81; p = 0.039) and found to be more common in patients with mucinous cancer compared with non-mucinous cancer, OR = 1.69 (95% CI = 1.02-2.80; p = 0.011). By using Kaplan-Meier analysis, the patients with genotype GG showed shorter cancer-specific and recurrence free survival with a hazard ratio (HR) of 1.25 (95% CI = 1.02-1.54; p = 0.036) and 1.52 (95% CI = 1.12-2.06; p = 0.007), respectively, in comparison with the carriers of A allele (AG + AA). The present findings demonstrated that the variant G allele of CD44 gene polymorphism rs187115 was related to risk for CRC and associated to mucinous cancer and predict worse prognosis in Swedish patients with CRC.

Place, publisher, year, edition, pages
Taylor & Francis, 2023
Keywords
CD44, SNP, colorectal cancer, survival
National Category
Cancer and Oncology
Identifiers
urn:nbn:se:hj:diva-60206 (URN)10.1080/15257770.2023.2200419 (DOI)000972547900001 ()37074032 (PubMedID)2-s2.0-85152949829 (Scopus ID)HOA;intsam;876027 (Local ID)HOA;intsam;876027 (Archive number)HOA;intsam;876027 (OAI)
Funder
Futurum - Academy for Health and Care, Jönköping County Council, Sweden, 970572
Available from: 2023-04-20 Created: 2023-04-20 Last updated: 2023-09-05Bibliographically approved
Dimberg, J., Shamoun, L., Landerholm, K. & Wågsäter, D. (2022). Effects of diabetes type 2 and metformin treatment in Swedish patients with colorectal cancer. World Journal of Gastroenterology, 28(19), 2148-2151
Open this publication in new window or tab >>Effects of diabetes type 2 and metformin treatment in Swedish patients with colorectal cancer
2022 (English)In: World Journal of Gastroenterology, ISSN 1007-9327, E-ISSN 2219-2840, Vol. 28, no 19, p. 2148-2151Article in journal (Refereed) Published
Abstract [en]

The association between type 2 diabetes mellitus (DM) and colorectal cancer (CRC) has been thoroughly investigated and reports have demonstrated that the risk of CRC is increased in DM patients. The association between DM and the survival of patients with CRC is controversial. Evidence suggests that metformin with its anti-inflammatory effects is a protective factor against the development of CRC among DM patients and that metformin therapy is associated with a better prognosis in patients with DM. In our cohort, we did not find any associations between the presence of DM or metformin and cancer specific survival or any relation to plasma levels of a panel of 40 inflammatory factors and irisin. On the other hand, we identified that the insulin-like growth factor binding protein 7 single nucleotide polymorphism rs2041437 was associated with DM in CRC patients. The dominance of the T bearing genotypes in patients with DM was statistically significant (P = 0.038), with an odds ratio of 1.66 (95% confidence interval: 1.03-2.69).

Place, publisher, year, edition, pages
Baishideng Publishing Group, 2022
Keywords
Colorectal cancer, Cytokines, Diabetes, Metformin, Polymorphism, Survival
National Category
Cancer and Oncology
Identifiers
urn:nbn:se:hj:diva-56988 (URN)10.3748/wjg.v28.i19.2148 (DOI)000804792400009 ()35664033 (PubMedID)2-s2.0-85131341746 (Scopus ID)GOA;;816546 (Local ID)GOA;;816546 (Archive number)GOA;;816546 (OAI)
Funder
Medical Research Council of Southeast Sweden (FORSS), 931897Futurum - Academy for Health and Care, Jönköping County Council, Sweden, 970572
Available from: 2022-06-09 Created: 2022-06-09 Last updated: 2022-07-21Bibliographically approved
Shamoun, L., Ramilo, A. B., Wågsäter, D., Landerholm, K., Andersson, R. E. & Dimberg, J. (2021). Association of gene and protein expression and genetic polymorphism of CC chemokine ligand 4 in colorectal cancer. World Journal of Gastroenterology, 27(30), 5076-5087
Open this publication in new window or tab >>Association of gene and protein expression and genetic polymorphism of CC chemokine ligand 4 in colorectal cancer
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2021 (English)In: World Journal of Gastroenterology, ISSN 1007-9327, E-ISSN 2219-2840, Vol. 27, no 30, p. 5076-5087Article in journal (Refereed) Published
Abstract [en]

BACKGROUND Leukocytes, such as T cells and macrophages, play an important role in tumorigenesis. CC chemokine ligand (CCL) 4, which is produced by lymphocytes and macrophages, has been found to be expressed in the mucosa of the gastrointestinal tract and is a potent chemoattractant for various leukocytes. AIM To examine CCL4 expression and its genetic polymorphism rs10491121 in patients with colorectal cancer (CRC) and evaluate their prognostic significance. METHODS Luminex technology was used to determine CCL4 Levels in CRC tissue (n = 98), compared with paired normal tissue, and in plasma from patients with CRC (n = 103), compared with healthy controls (n = 97). Included patients had undergone surgical resection for primary colorectal adenocarcinomas between 1996 and 2019 at the Department of Surgery, Ryhov County Hospital, Jönköping, Sweden. Reverse transcription quantitative PCR was used to investigate the CCL4 gene expression in CRC tissue (n = 101). Paired normal tissue and TaqMan single nucleotide polymorphism assays were used for the CCL4 rs10491121 polymorphism in 610 CRC patients and 409 healthy controls. RESULTS The CCL4 protein and messenger RNA expression levels were higher in CRC tissue than in normal paired tissue (90%, P < 0.001 and 45%, P < 0.05, respectively). CRC tissue from patients with localized disease had 2.8-fold higher protein expression levels than that from patients with disseminated disease. Low CCL4 protein expression levels in CRC tissue were associated with a 30% lower cancer-specific survival rate in patients (P < 0.01). The level of plasma CCL4 was 11% higher in CRC patients than in healthy controls (P < 0.05) and was positively correlated (r = 0.56, P < 0.01) with the CCL4 protein level in CRC tissue. The analysis of CCL4 gene polymorphism rs10491121 showed a difference (P < 0.05) between localized disease and disseminated disease in the right colon, with a dominance of allele A in localized disease. Moreover, the rate of the A allele was higher among CRC patients with mucinous cancer than among those with nonmucinous cancer. CONCLUSION The present study indicates that the CRC tissue levels of CCL4 and CCL4 gene polymorphism rs10491121, particularly in the right colon, are associated with clinical outcome in CRC patients.

Place, publisher, year, edition, pages
Baishideng Publishing Group, 2021
Keywords
CC chemokine ligand 4, Chemokine, Colorectal cancer, Gene and protein expression, Gene polymorphism, Survival rate, macrophage inflammatory protein 1beta, adult, aged, allele, Article, blood analysis, cancer localization, cancer risk, cause specific survival, CCL4 gene, clinical feature, colorectal carcinoma, colorectal surgery, controlled study, disease association, disseminated cancer, female, gene expression regulation, genetic association, genotype, human, long term survival, major clinical study, male, primary tumor, protein expression, reverse transcription polymerase chain reaction, single nucleotide polymorphism, Sweden, tumor-related gene, upregulation
National Category
Cancer and Oncology
Identifiers
urn:nbn:se:hj:diva-54308 (URN)10.3748/wjg.v27.i30.5076 (DOI)000691254900009 ()2-s2.0-85112465399 (Scopus ID)GOA;;759618 (Local ID)GOA;;759618 (Archive number)GOA;;759618 (OAI)
Available from: 2021-08-23 Created: 2021-08-23 Last updated: 2021-09-09Bibliographically approved
Van Nguyen, S., Shamoun, L., Landerholm, K., Andersson, R. E., Wågsäter, D. & Dimberg, J. (2021). Cytotoxic T-lymphocyte antigen-4 (CTLA-4) gene polymorphism (rs3087243) is related to risk and survival in patients with colorectal cancer. In Vivo, 35(2), 969-975
Open this publication in new window or tab >>Cytotoxic T-lymphocyte antigen-4 (CTLA-4) gene polymorphism (rs3087243) is related to risk and survival in patients with colorectal cancer
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2021 (English)In: In Vivo, ISSN 0258-851X, E-ISSN 1791-7549, Vol. 35, no 2, p. 969-975Article in journal (Refereed) Published
Abstract [en]

BACKGROUND/AIM: Cytotoxic T-lymphocyte antigen-4 (CTLA-4), transiently expressed on T cells, plays a pivotal role in the negative feedback regulation of T-cell activation and proliferation. The aim of the present study was to examine the influence of CTLA-4 gene polymorphism rs3087243 on CRC susceptibility and long-term survival in Swedish patients with CRC.

PATIENTS AND METHODS: Genotypes of 491 patients and 433 healthy controls were determined, using TaqMan single nucleotide polymorphism (SNP) assays based on polymerase chain reaction.

RESULTS: Patients carrying allele A were found to be at a higher risk of CRC and this allele was found to be more common in patients with disseminated disease compared to localized disease in the right colon. Kaplan-Meier analysis of cancer-specific survival showed that carriers of allele A had the highest risk of CRC-related death.

CONCLUSION: The SNP rs3087243 of the CTLA-4 gene was associated with CRC risk and, therefore, it could be a prognostic marker for Swedish patients with CRC.

Place, publisher, year, edition, pages
International Institute of Anticancer Research, 2021
Keywords
CTLA-4, SNP, colorectal cancer
National Category
Cancer and Oncology
Identifiers
urn:nbn:se:hj:diva-51970 (URN)10.21873/invivo.12339 (DOI)000648906100005 ()33622891 (PubMedID)2-s2.0-85101902339 (Scopus ID)GOA;intsam;723155 (Local ID)GOA;intsam;723155 (Archive number)GOA;intsam;723155 (OAI)
Funder
Medical Research Council of Southeast Sweden (FORSS)
Available from: 2021-03-01 Created: 2021-03-01 Last updated: 2021-06-03Bibliographically approved
Alehagen, U., Shamoun, L., Dimberg, J. & Wågsäter, D. (2021). Increased mortality in the A/A genotype of the SNP rs28372698 of interleukin 32. Experimental and Therapeutic Medicine, 21(2), Article ID 127.
Open this publication in new window or tab >>Increased mortality in the A/A genotype of the SNP rs28372698 of interleukin 32
2021 (English)In: Experimental and Therapeutic Medicine, ISSN 1792-0981, E-ISSN 1792-1015, Vol. 21, no 2, article id 127Article in journal (Refereed) Published
Abstract [en]

One of the major causes of mortality in the western hemisphere is cardiovascular disease. Therefore, a variety of markers to identify those at risk are required. Interleukin-32 (IL-32) is a cytokine that is associated with inflammation. The aim of the current study was to investigate variations in single nucleotide polymorphisms (SNPs) of IL-32 and plasma expression, and their associations with mortality. A population of 486 elderly community-living persons were evaluated. The participants were followed for 7.1 years and underwent a clinical examination and blood sampling. SNP analyses of IL-32 rs28372698 using allelic discrimination and plasma measurement of IL-32, using ELISA, were performed. During the follow-up period, 140 (28.8%) all-cause and 87 (17.9%) cardiovascular deaths were registered. No significant difference between mortality and plasma concentration of IL-32 was observed. The A/A genotype group exhibited significantly higher all-cause mortality (P=0.036), and an almost two-fold increased risk in a multivariate Cox regression model for all-cause and cardiovascular mortality. A highly significant difference in all-cause and cardiovascular mortality between the A/A and the T/T groups was demonstrated (P=0.015 resp. P=0.014). In the present study, the cytokine IL-32 was demonstrated to have prognostic information, with an increased risk of all-cause and cardiovascular mortality for those with the A/A genotype rs28372698 of IL-32. The A/A genotype could therefore be regarded as a possible biomarker for mortality risk that may be used to offer optimized cardiovascular patient handling in the future. However, the present study sample was small, and the results should be regarded as hypothesis-generating.

Place, publisher, year, edition, pages
Spandidos Publications, 2021
Keywords
genotypes, interleukin-32, mortality
National Category
Cardiology and Cardiovascular Disease
Identifiers
urn:nbn:se:hj:diva-51354 (URN)10.3892/etm.2020.9559 (DOI)000601091300001 ()33376509 (PubMedID)
Available from: 2021-01-04 Created: 2021-01-04 Last updated: 2025-02-10Bibliographically approved
Dimberg, J., Rubér, M., Skarstedt, M., Andersson, M. & Andersson, R. E. (2020). Genetic polymorphism patterns suggest a genetic driven inflammatory response as pathogenesis in appendicitis. International Journal of Colorectal Disease, 35, 277-284
Open this publication in new window or tab >>Genetic polymorphism patterns suggest a genetic driven inflammatory response as pathogenesis in appendicitis
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2020 (English)In: International Journal of Colorectal Disease, ISSN 0179-1958, E-ISSN 1432-1262, Vol. 35, p. 277-284Article in journal (Refereed) Published
Abstract [en]

PURPOSE: The pathogenesis of appendicitis is not well understood. Environmental factors are regarded most important, but epidemiologic findings suggest a role of inflammatory and genetic mechanisms. This study determines the association of single nucleotide polymorphisms (SNPs) of inflammatory genes with appendicitis.

METHODS: As part of a larger prospective study on the diagnostic value of inflammatory variables in appendicitis, the genotype frequency of 28 polymorphisms in 26 inflammatory response genes from the appendicitis and control patients was analyzed in blood samples from 343 patients, 100 with appendicitis, and 243 with non-specific abdominal pain, using TaqMan SNP genotyping assays.

RESULTS: Associations with appendicitis were found for SNPs IL-13 rs1800925 with odds ratio (OR) 6.02 (95% CI 1.52-23.78) for T/T versus C/C + T/T, for IL-17 rs2275913 with OR 2.38 (CI 1.24-4.57) for A/A vs G/G + GA, for CCL22 rs223888 with OR 0.12 (0.02-0.90), and for A/A vs G/G + GA. Signs of effect modification of age for the association with appendicitis were found for IL-13 rs1800925 and CTLA4 rs3087243. Stratified analysis showed difference in association with severity of disease for IL-17 rs2275913 and CD44 rs187115.

CONCLUSIONS: The association of gene variants on risk of appendicitis and its severity suggest an etiologic role of genetically regulated inflammatory response. This may have implications for understanding the prognosis of untreated appendicitis as a possible self-limiting disorder and for understanding the inverse association of appendicitis with ulcerative colitis.

Place, publisher, year, edition, pages
Springer, 2020
Keywords
Appendicitis, Gene polymorphism, Inflammatory bowel disease, Pathophysiology
National Category
Gastroenterology and Hepatology
Identifiers
urn:nbn:se:hj:diva-47189 (URN)10.1007/s00384-019-03473-1 (DOI)000511974400010 ()31845023 (PubMedID)2-s2.0-85076627049 (Scopus ID)HOA HHJ 2020 (Local ID)HOA HHJ 2020 (Archive number)HOA HHJ 2020 (OAI)
Available from: 2019-12-20 Created: 2019-12-20 Last updated: 2025-02-11Bibliographically approved
Dimberg, J., Andersson, R. E. & Haglund, S. (2020). Genomic Profiling of Stage II Colorectal Cancer Identifies Candidate Genes Associated with Recurrence-Free Survival, Tumor Location, and Differentiation Grade.. Oncology, 98(8), 575-582
Open this publication in new window or tab >>Genomic Profiling of Stage II Colorectal Cancer Identifies Candidate Genes Associated with Recurrence-Free Survival, Tumor Location, and Differentiation Grade.
2020 (English)In: Oncology, ISSN 0030-2414, E-ISSN 1423-0232, Vol. 98, no 8, p. 575-582Article in journal (Refereed) Published
Abstract [en]

BACKGROUND: Identification of high-risk stage II colorectal cancer (CRC) patients, potential candidates for adjuvant chemotherapy, is challenging. Current clinical guidelines rely mainly on histopathological markers with relatively weak prognostic value. This motivates further search for prognostic markers.

METHODS: This explorative study aimed to identify potential candidate gene mutations to facilitate differentiation between subgroups of patients with CRC stage II. Panel-based massive parallel sequencing was used to genetically characterize tumor tissues from 85 patients radically operated for CRC stage II, of which 12 developed recurrent cancer during follow-up. Genetic data was compared between patients with or without cancer recurrence, between tumors located in colon and in rectum, and for association with tumor differentiation grade.

RESULTS: Genetic variation in ATM, C11ORF65 was associated with recurrence-free survival. Previous reports regarding the association between BRAF mutation and a higher age at diagnosis, and tumor location in colon were confirmed. APC, BRAF, or KRAS mutation was associated with tumor differentiation grade. Multiple correspondence analyses revealed no obvious clustering of patients with the studied clinical characteristics, indicating that the genetic signatures observed here were unique for each individual.

CONCLUSIONS: Taken together, we have demonstrated the utility of panel-based massive parallel sequencing to explore the pathogenesis of CRC stage II. We have identified promising candidate gene mutations associated with cancer recurrence, tumor location, and differentiation grade in patients with CRC stage II, which merit further investigation.

Place, publisher, year, edition, pages
S. Karger, 2020
Keywords
APC, ATM, BRAF, Colorectal cancer stage II, Genomic profiling, KRAS
National Category
Cancer and Oncology
Identifiers
urn:nbn:se:hj:diva-48405 (URN)10.1159/000507118 (DOI)000556410800009 ()32408300 (PubMedID)2-s2.0-85086128443 (Scopus ID)HOA HHJ 2020 (Local ID)HOA HHJ 2020 (Archive number)HOA HHJ 2020 (OAI)
Available from: 2020-05-15 Created: 2020-05-15 Last updated: 2020-08-24Bibliographically approved
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Identifiers
ORCID iD: ORCID iD iconorcid.org/0000-0003-2328-7334

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