AHR gene expression and the polymorphism rs2066853 are associated with clinicopathological parameters in colorectal carcinoma

Cheng, Tracie; Gamage, Sujani Madhurika Kodagoda; Hewage, Dinu; Lu, Cu-Tai; Aktar, Sharmin; Gopalan, Vinod; Lam, Alfred King‐Yin

doi:10.1016/j.humpath.2022.02.001

Cited by 4 publications

(1 citation statement)

References 45 publications

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“…SNPs are considered to be closely related to environmental, ethnic, and hereditary factors [ 27 ]. Specific SNP sites could result in changes in gene expression profiles and gene functions, thereby influencing susceptibilities to various diseases, including tumors [ 28 , 29 ]. Genome-wide association studies (GWASs) and high-throughput sequencing have identified numerous unstudied SNP sites, providing new perspectives on the mechanisms of tumorigenesis and methods for cancer screening [ 30 , 31 ].…”

Section: Discussionmentioning

confidence: 99%

Polymorphism rs2327430 in TCF21 predicts the risk and prognosis of gastric cancer by affecting the binding between TFAP2A and TCF21

Zhou,

Shen,

Cao

et al. 2024

Cancer Cell Int

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Background Single nuclear polymorphisms (SNPs) have been published to be correlated with multiple diseases. Transcription Factor 21 (TCF21) is a critical transcription factor involved in various types of cancers. However, the association of TCF21 genetic polymorphisms with gastric cancer (GC) susceptibility and prognosis remains unclear. Methods A case-control study comprising 890 patients diagnosed with GC and an equal number of cancer-free controls was conducted. After rigorous statistical analysis, molecular experiments were carried out to elucidate the functional significance of the SNPs in the context of GC. Results TCF21 rs2327430 (OR = 0.78, P = 0.026) provides protection against GC, while rs4896011 (OR = 1.39, P = 0.005) exhibit significant associations with GC risk. Furthermore, patients with the (TC + CC) genotype of rs2327430 demonstrate a relatively favorable prognosis (OR = 0.47, P = 0.012). Mechanistically, chromatin immunoprecipitation assay and luciferase reporter assay revealed that the C allele of rs2327430 disrupts the binding of Transcription Factor AP-2 Alpha (TFAP2A) to the promoter region of TCF21, resulting in increased expression of TCF21 and inhibition of malignant behaviors in GC cells. Conclusion Our findings highlight the significant role of TCF21 SNPs in both the risk and prognosis of GC and provide valuable insights into the underlying molecular mechanisms. Specifically, the disruptive effect of rs2327430 on TCF21 expression and its ability to modulate malignant cell behaviors suggest that rs2327430 may serve as a potential predictive marker for GC risk and prognosis.

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Section: Discussionmentioning

confidence: 99%

Polymorphism rs2327430 in TCF21 predicts the risk and prognosis of gastric cancer by affecting the binding between TFAP2A and TCF21

Zhou,

Shen,

Cao

et al. 2024

Cancer Cell Int

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Association of xenobiotic-metabolizing genes polymorphisms with cervical cancer risk in the Tunisian population

et al. 2022

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Background: Host genetic characteristics and environmental factors interactions may play a crucial role in cervical carcinogenesis. We investigated the impact of functional genetic variants of four xenobiotic-metabolizing genes (AhR, CYP1A1, GSTM1, and GSTT1) on cervical cancer development in Tunisian women. Methods:The AhR gene polymorphism was analyzed using the tetra-primer ARMS-PCR, whereas the CYP1A1 polymorphism genotypes were identified by PCR-RFLP. A multiplex ligation-dependent polymerase chain reaction approach was applied for the analysis of GSTM1 and GSTT1 polymorphisms. Results:The homozygous A/A genotype of the AhR gene (rs2066853) and the heterozygous T/C genotype of the CYP1A1 SNP (CYP1A1-MspI) appeared to be associated with an increased risk of cervical tumorigenesis (OR a = 2.81; OR a = 5.52, respectively). Furthermore, a significantly increased risk of cervical cancer was associated with the GSTT1 null genotype (OR a = 2.65). However, the null GSTM1 genotype showed any significant association with the risk of cervical cancer compared to the wild genotype (OR a = 1.18; p = 0.784). Considering the combined effect, we noted a significantly higher association with cancer risk for individuals with at least two high-risk genotypes of CYP1A1/GSTT1 (OR a = 4.2), individuals with at least two high-risk genotypes of CYP1A1/GSTT1/AhR (OR a = 11.3) and individuals with at least two high-risk genotypes of CYP1A1/GSTM1/GSTT1/AhR exploitation low-risk genotype as a reference. Conclusion:This study indicated that the single-gene contribution and the combined effect of xenobioticmetabolizing gene polymorphisms (AhR, CYP1A1-MspI, GSTM1, and GSTT1) may have a considerable association with increased cervical cancer risk.

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Aryl hydrocarbon receptor (AhR) and pregnane X receptor (PXR) play both distinct and common roles in the regulation of colon homeostasis and intestinal carcinogenesis

Vázquez-Gómez,

Petráš,

Dvořák

et al. 2023

Biochemical Pharmacology

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AHR gene expression and the polymorphism rs2066853 are associated with clinicopathological parameters in colorectal carcinoma

Cited by 4 publications

References 45 publications

Polymorphism rs2327430 in TCF21 predicts the risk and prognosis of gastric cancer by affecting the binding between TFAP2A and TCF21

Polymorphism rs2327430 in TCF21 predicts the risk and prognosis of gastric cancer by affecting the binding between TFAP2A and TCF21

Association of xenobiotic-metabolizing genes polymorphisms with cervical cancer risk in the Tunisian population

Aryl hydrocarbon receptor (AhR) and pregnane X receptor (PXR) play both distinct and common roles in the regulation of colon homeostasis and intestinal carcinogenesis

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