Polymorphisms of matrix metalloproteinases affect the susceptibility of esophageal cancer

Hai, Chen; Xu, Xianquan; Hua, Congshu; Zhang, Heng; Jian, Junling; Ge, Tengfei; Xie, Jianfeng; Yu, Zhengping

doi:10.1097/md.0000000000027229

Cited by 4 publications

(3 citation statements)

References 42 publications

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“…Although genetic susceptibility to EC has been studied before (Chen et al, 2021), there is a scarcity of published data on the association of EC with CDKN1A rs1059234 Conclusion: A significant increase in ESCC risk is associated with the SNPs CDKN1A rs1059234 and MMP9 rs17576.…”

Section: Introductionmentioning

confidence: 99%

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Gene polymorphisms of cyclin‐dependent kinase inhibitor and matrix metalloproteinase‐9 in Sudanese patients with esophageal squamous cell carcinoma

Eltayeb

Ali

Omar

et al. 2022

Molec Gen & Gen Med

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Background:The polymorphisms of the cyclin-dependent kinase inhibitor (CDKN1A) gene and matrix metalloproteinase-9 (MMP9) gene may increase one's susceptibility to malignancies. In this study, the association of the single nucleotide polymorphisms (SNPs) CDKN1A rs1059234 c.70C>T at the 3′ untranslated region and MMP9 rs17576 (c.836A>G, p.Gln279Arg) with esophageal squamous cell carcinoma (ESCC) in Sudanese individuals were investigated. Materials and Methods: A case-control study involving age-and gendermatched groups were conducted in a cancer center in eastern Sudan (Gadarif) between April and October 2020. The case group consisted of ESCC patients, whereas the control group comprised healthy subjects. Polymerase chain reactionrestriction fragment length polymorphism was performed for the genotyping of the CDKN1A rs1059234 and MMP9 rs17576 SNPs. The genotyping results were confirmed by Sanger sequencing. Results:The genotype distributions for CDKN1A rs1059234 and MMP9 rs17576 were in agreement with the Hardy-Weinberg equilibrium. The variant allele T in CDKN1 rs1059234 c.70C>T was significantly more prevalent in the ESCC patients than in the healthy controls [51.3% vs. 19.2%; OR = 4.4;; p < 0.001]. Moreover, in CDKN1A rs1059234, the genotype TC + TT [76.9% vs. 38.4%; OR = 5.3; 95% CI (2.6-10.7); p < 0.001] was more frequent in the cases than in the controls, and it was significantly associated with ESCC risk. In MMP9 rs17576, the variant allele G was also significantly prevalent in the cases relative to the controls, and it was significantly associated with increased ESCC risk in the cases compared with the controls [27.5% vs. 1.9%; OR = 19.4; 95%CI (5.8-64.1); p < 0.001]. Both genotypes containing the allele G (AG + GG) were the most common genotypes in the cases [48.7% vs. 3.8%; OR = 23.7;; p < 0.001], and they significantly increased the risk of ESCC.

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Section: Introductionmentioning

confidence: 99%

“…Although genetic susceptibility to EC has been studied before (Chen et al, 2021 ), there is a scarcity of published data on the association of EC with CDKN1A rs1059234 and MMP9 rs17576 (Taghavi et al, 2010 ). Therefore, this study aimed to investigate the association of these SNPs with EC.…”

Section: Introductionmentioning

confidence: 99%

Gene polymorphisms of cyclin‐dependent kinase inhibitor and matrix metalloproteinase‐9 in Sudanese patients with esophageal squamous cell carcinoma

Eltayeb

Ali

Omar

et al. 2022

Molec Gen & Gen Med

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“…A better understanding of the pathobiology of fibrotic HP and of IPF as well as the genetic and molecular differences between them might help to identify biomarkers that allow distinguishing those patients who would benefit from antigen-exposure avoidance and immunosuppression (i.e., HP), from those with IPF in which the use of these drugs is not only unhelpful but increases the risk of hospitalization and death ( 12 , 23 , 25 – 27 ). There have been numerous examples in the literature where specific SNPs have been associated with disease susceptibility ( 28 ) or drug-response in certain disease populations ( 27 , 29 – 31 ). For example, as reviewed and analyzed elsewhere ( 32 ) genotypes of molecules carrying certain SNPs were associated with response rates after imatinib treatment in patients with chronic myeloid leukemia.…”

Section: Introductionmentioning

confidence: 99%

Single Nucleotide Polymorphisms (SNP) and SNP-SNP Interactions of the Surfactant Protein Genes Are Associated With Idiopathic Pulmonary Fibrosis in a Mexican Study Group; Comparison With Hypersensitivity Pneumonitis

Abbasi

Chen²,

Gandhi³

et al. 2022

Front. Immunol.

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Surfactant proteins (SPs) are important for normal lung function and innate immunity of the lungs and their genes have been identified with significant genetic variability. Changes in quantity or quality of SPs due to genetic mutations or natural genetic variability may alter their functions and contribute to the host susceptibility for particular diseases. Alternatively, SP single nucleotide polymorphisms (SNPs) can serve as markers to identify disease risk or response to therapies, as shown for other genes in a number of other studies. In the current study, we evaluated associations of SFTP SNPs with idiopathic pulmonary fibrosis (IPF) by studying novel computational models where the epistatic effects (dominant, additive, recessive) of SNP-SNP interactions could be evaluated, and then compared the results with a previously published hypersensitivity pneumonitis (HP) study where the same novel models were used. Mexican Hispanic patients (IPF=84 & HP=75) and 194 healthy control individuals were evaluated. The goal was to identify SP SNPs and SNP-SNP interactions that associate with IPF as well as SNPs and interactions that may be unique to each of these interstitial diseases or common between them. We observed: 1) in terms of IPF, i) three single SFTPA1 SNPs to associate with decreased IPF risk, ii) three SFTPA1 haplotypes to associate with increased IPF risk, and iii) a number of three-SNP interactions to associate with IPF susceptibility. 2) Comparison of IPF and HP, i) three SFTPA1 and one SFTPB SNP associated with decreased risk in IPF but increased risk in HP, and one SFTPA1 SNP associated with decreased risk in both IPF and HP, ii) a number of three-SNP interactions with the same or different effect pattern associated with IPF and/or HP susceptibility, iii) one of the three-SNP interactions that involved SNPs of SFTPA1, SFTPA2, and SFTPD, with the same effect pattern, was associated with a disease-specific outcome, a decreased and increased risk in HP and IPF, respectively. This is the first study that compares the SP gene variants in these two phenotypically similar diseases. Our findings indicate that SNPs of all SFTPs may play an important role in the genetic susceptibility to IPF and HP. Importantly, IPF and HP share some SP genetic variants, suggesting common pathophysiological mechanisms and pathways regarding surfactant biogenesis, but also some differences, highlighting the diverse underlying pathogenic mechanisms between an inflammatory-driven fibrosis (HP) and an epithelial-driven fibrosis (IPF). Alternatively, the significant SNPs identified here, along with SNPs of other genes, could serve as markers to distinguish these two devastating diseases.

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Targeting the tumor microenvironment: Potential strategy for cancer therapeutics

Babar

Saeed

Tabish

et al. 2023

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Diseas

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Polymorphisms of matrix metalloproteinases affect the susceptibility of esophageal cancer

Abstract: Supplemental Digital Content is available in the text

Cited by 4 publications

References 42 publications

Gene polymorphisms of cyclin‐dependent kinase inhibitor and matrix metalloproteinase‐9 in Sudanese patients with esophageal squamous cell carcinoma

Gene polymorphisms of cyclin‐dependent kinase inhibitor and matrix metalloproteinase‐9 in Sudanese patients with esophageal squamous cell carcinoma

Single Nucleotide Polymorphisms (SNP) and SNP-SNP Interactions of the Surfactant Protein Genes Are Associated With Idiopathic Pulmonary Fibrosis in a Mexican Study Group; Comparison With Hypersensitivity Pneumonitis

Targeting the tumor microenvironment: Potential strategy for cancer therapeutics

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