rs401502 and rs11575934 Polymorphisms of the IL-12 Receptor Beta 1 Gene are Protective Against Colorectal Carcinogenesis
Background: Colorectal cancer (CRC) is a major public health problem worldwide and in Tunisia. It ranks among the main cancers in terms of incidence and cancer-related cause of death. Its pathogenesis is currently considered to be multifactorial involving genetic and environmental factors. Recent st...
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| Format: | Article |
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Frontiers Media S.A.
2022-05-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.864419/full |
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| author | Refka Jelassi Refka Jelassi Sabrine Dhouioui Hamza Ben Salah Nasreddine Saidi Nabiha Mzoughi Radhia Ammi Aida Bouratbine Karim Aoun Ines Zidi Hanen Chelbi |
| author_facet | Refka Jelassi Refka Jelassi Sabrine Dhouioui Hamza Ben Salah Nasreddine Saidi Nabiha Mzoughi Radhia Ammi Aida Bouratbine Karim Aoun Ines Zidi Hanen Chelbi |
| author_sort | Refka Jelassi |
| collection | DOAJ |
| description | Background: Colorectal cancer (CRC) is a major public health problem worldwide and in Tunisia. It ranks among the main cancers in terms of incidence and cancer-related cause of death. Its pathogenesis is currently considered to be multifactorial involving genetic and environmental factors. Recent studies have suggested that the gene encoding the β1 subunit of the IL-12 receptor, an important pro-inflammatory cytokine of the anti-tumor response, could be involved in the susceptibility to inherited CRC. Hence, it would be interesting to study the role of single nucleotide polymorphisms (SNPs) within the IL-12RB1 gene (rs401502 and rs11575934) in CRC susceptibility.Aim: Our purpose was to assess whether genetic variants IL-12RB1 +1196G/C (rs401502) and IL-12RB1 +705A/G (rs11575934) within the IL-12RB1 gene are associated with the sporadic CRC risk.Methods: A total of 110 Tunisian patients with sporadic CRC and 141 healthy control subjects were included in this study. Genotyping was performed by high-resolution melting (HRM) analysis. All results were confirmed by direct DNA sequencing or PCR-RFLP methods. Later, the allele frequencies and genotype distribution were established and compared between the control group and CRC patients.Results: The obtained results showed that the two target SNPs were in Hardy–Weinberg equilibrium (HWE) in both patients and controls. Minor allele frequencies of rs401502 SNP were 16.4% in CRC cases and 23.8% in controls. Mutant allele of rs11575934 SNP was present with 21.4% in CRC patients and 29.8% in control group. An association study showed a significant association of two target polymorphisms with CRC, according to the dominant genetic model with OR = 0.577, 95% CI = [0.343 to 0.972], p = 0.038 and OR = 0.547, 95% CI = [0.328 to 0.911], p = 0.02, respectively.Conclusion: In this study, we found, for the first time, a potential protective effect of two SNPs in the IL-12RB1 gene, namely rs401502 and rs11575934, in sporadic colorectal cancer in Tunisians. |
| first_indexed | 2024-12-12T05:42:07Z |
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| language | English |
| last_indexed | 2024-12-12T05:42:07Z |
| publishDate | 2022-05-01 |
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| series | Frontiers in Genetics |
| spelling | doaj.art-0a80e3fc84204af494cc4b8fa3532f952022-12-22T00:35:53ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-05-011310.3389/fgene.2022.864419864419rs401502 and rs11575934 Polymorphisms of the IL-12 Receptor Beta 1 Gene are Protective Against Colorectal CarcinogenesisRefka Jelassi0Refka Jelassi1Sabrine Dhouioui2Hamza Ben Salah3Nasreddine Saidi4Nabiha Mzoughi5Radhia Ammi6Aida Bouratbine7Karim Aoun8Ines Zidi9Hanen Chelbi10Laboratory of Medical Parasitology, Biotechnology, and Biomolecules, Pasteur Institute of Tunis, University Tunis El Manar, Tunis, TunisiaFaculty of Sciences Bizerte, University of Carthage, Tunis, TunisiaLaboratory Microorganisms and Active Biomolecules, Faculty of Sciences of Tunis, University Tunis El Manar, Tunis, TunisiaLaboratory of Medical Parasitology, Biotechnology, and Biomolecules, Pasteur Institute of Tunis, University Tunis El Manar, Tunis, TunisiaLaboratory of Medical Parasitology, Biotechnology, and Biomolecules, Pasteur Institute of Tunis, University Tunis El Manar, Tunis, TunisiaLaboratory of Medical Parasitology, Biotechnology, and Biomolecules, Pasteur Institute of Tunis, University Tunis El Manar, Tunis, TunisiaExternal Consultants Service Pasteur Institute of Tunis, Tunis, TunisiaLaboratory of Medical Parasitology, Biotechnology, and Biomolecules, Pasteur Institute of Tunis, University Tunis El Manar, Tunis, TunisiaLaboratory of Medical Parasitology, Biotechnology, and Biomolecules, Pasteur Institute of Tunis, University Tunis El Manar, Tunis, TunisiaLaboratory Microorganisms and Active Biomolecules, Faculty of Sciences of Tunis, University Tunis El Manar, Tunis, TunisiaLaboratory of Medical Parasitology, Biotechnology, and Biomolecules, Pasteur Institute of Tunis, University Tunis El Manar, Tunis, TunisiaBackground: Colorectal cancer (CRC) is a major public health problem worldwide and in Tunisia. It ranks among the main cancers in terms of incidence and cancer-related cause of death. Its pathogenesis is currently considered to be multifactorial involving genetic and environmental factors. Recent studies have suggested that the gene encoding the β1 subunit of the IL-12 receptor, an important pro-inflammatory cytokine of the anti-tumor response, could be involved in the susceptibility to inherited CRC. Hence, it would be interesting to study the role of single nucleotide polymorphisms (SNPs) within the IL-12RB1 gene (rs401502 and rs11575934) in CRC susceptibility.Aim: Our purpose was to assess whether genetic variants IL-12RB1 +1196G/C (rs401502) and IL-12RB1 +705A/G (rs11575934) within the IL-12RB1 gene are associated with the sporadic CRC risk.Methods: A total of 110 Tunisian patients with sporadic CRC and 141 healthy control subjects were included in this study. Genotyping was performed by high-resolution melting (HRM) analysis. All results were confirmed by direct DNA sequencing or PCR-RFLP methods. Later, the allele frequencies and genotype distribution were established and compared between the control group and CRC patients.Results: The obtained results showed that the two target SNPs were in Hardy–Weinberg equilibrium (HWE) in both patients and controls. Minor allele frequencies of rs401502 SNP were 16.4% in CRC cases and 23.8% in controls. Mutant allele of rs11575934 SNP was present with 21.4% in CRC patients and 29.8% in control group. An association study showed a significant association of two target polymorphisms with CRC, according to the dominant genetic model with OR = 0.577, 95% CI = [0.343 to 0.972], p = 0.038 and OR = 0.547, 95% CI = [0.328 to 0.911], p = 0.02, respectively.Conclusion: In this study, we found, for the first time, a potential protective effect of two SNPs in the IL-12RB1 gene, namely rs401502 and rs11575934, in sporadic colorectal cancer in Tunisians.https://www.frontiersin.org/articles/10.3389/fgene.2022.864419/fullcolorectal cancerIL-12RB1rs401502rs11575934single nucleotide polymorphism (SNP) |
| spellingShingle | Refka Jelassi Refka Jelassi Sabrine Dhouioui Hamza Ben Salah Nasreddine Saidi Nabiha Mzoughi Radhia Ammi Aida Bouratbine Karim Aoun Ines Zidi Hanen Chelbi rs401502 and rs11575934 Polymorphisms of the IL-12 Receptor Beta 1 Gene are Protective Against Colorectal Carcinogenesis Frontiers in Genetics colorectal cancer IL-12RB1 rs401502 rs11575934 single nucleotide polymorphism (SNP) |
| title | rs401502 and rs11575934 Polymorphisms of the IL-12 Receptor Beta 1 Gene are Protective Against Colorectal Carcinogenesis |
| title_full | rs401502 and rs11575934 Polymorphisms of the IL-12 Receptor Beta 1 Gene are Protective Against Colorectal Carcinogenesis |
| title_fullStr | rs401502 and rs11575934 Polymorphisms of the IL-12 Receptor Beta 1 Gene are Protective Against Colorectal Carcinogenesis |
| title_full_unstemmed | rs401502 and rs11575934 Polymorphisms of the IL-12 Receptor Beta 1 Gene are Protective Against Colorectal Carcinogenesis |
| title_short | rs401502 and rs11575934 Polymorphisms of the IL-12 Receptor Beta 1 Gene are Protective Against Colorectal Carcinogenesis |
| title_sort | rs401502 and rs11575934 polymorphisms of the il 12 receptor beta 1 gene are protective against colorectal carcinogenesis |
| topic | colorectal cancer IL-12RB1 rs401502 rs11575934 single nucleotide polymorphism (SNP) |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.864419/full |
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