A missense variant in EZH2 is associated with colorectal cancer risk in a Chinese population

Li, Huihui; Chang, Chunxiao; Yu-hong, Shang; Qiang, Lei; Zhang, Baoxuan; Bu, Bing; Ren, Guohua; Liu, Song; Mao, Shang; Yu, Jinming

doi:10.18632/oncotarget.21888

Cited by 4 publications

(2 citation statements)

References 25 publications

(25 reference statements)

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“…The EZH2 SNP, rs2302427, encodes the Ezh2 D185H substitution, which is located in the domain that interacts with DNA methyltransferases ( Table S2 ). This SNP has been identified as a risk factor for colorectal cancer in a Chinese population [ 51 ]. This SNP was also detected in an AML patient with a morphology resembling acute promyelocytic leukemia without the PARA gene rearrangement [ 52 ].…”

Section: Discussionmentioning

confidence: 99%

Analysis of Relationships between Immune Checkpoint and Methylase Gene Polymorphisms and Outcomes after Unrelated Bone Marrow Transplantation

Takahashi

Okayama

Yamaguchi

et al. 2021

Cancers

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Unrelated bone marrow transplantation (uBMT) is performed to treat blood disorders, and it uses bone marrow from an unrelated donor as the transplant source. Although the importance of HLA matching in uBMT has been established, that of other genetic factors, such as single-nucleotide polymorphisms (SNPs), remains unclear. The application of immunoinhibitory receptors as anticancer drugs has recently been attracting attention. This prompted us to examine the importance of immunoinhibitory receptor SNPs in uBMT. We retrospectively genotyped five single-nucleotide polymorphisms (SNPs) in the immune checkpoint genes, BTLA, PD-1, LAG3, and CTLA4, and two SNPs in the methylase genes, DNMT1 and EZH2, in 999 uBMT donor–recipient pairs coordinated through the Japan Marrow Donor Program matched at least at HLA-A, -B, and -DRB1. No correlations were observed between these SNPs and post-uBMT outcomes (p > 0.005). This result questions the usefulness of these immune checkpoint gene polymorphisms for predicting post-BMT outcomes. However, the recipient EZH2 histone methyltransferase gene SNP, which encodes the D185H substitution, exhibited a low p-value in regression analysis of grade 2–4 acute graft-versus-host disease (p = 0.010). Due to a low minor allele frequency, this SNP warrants further investigation in a larger-scale study.

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Section: Discussionmentioning

confidence: 99%

Analysis of Relationships between Immune Checkpoint and Methylase Gene Polymorphisms and Outcomes after Unrelated Bone Marrow Transplantation

Takahashi

Okayama

Yamaguchi

et al. 2021

Cancers

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“…Interestingly, an association between a missense variant in EZH2 and risk of CRC was discovered by the Li group. They identified that the presence of the rs2302427 variant showed a significant association with increased CRC susceptibility [103]. Recent studies point to other mechanistic roles of HKMTs in CRC.…”

Section: The Role Of Major Epigenetic Enzymes In Crc and Therapeutic ...mentioning

confidence: 99%

Epigenetic Biomarkers and Their Therapeutic Applications in Colorectal Cancer

Hartley¹,

Martin²,

Lü³

2019

Advances in the Molecular Understanding of Colorectal Cancer

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Colorectal cancer (CRC) is one of the most aggressive cancers worldwide and is known to develop through a stepwise process involving the accumulation of several genetic and epigenetic alterations. Furthermore, numerous studies have highlighted the significant role that certain epigenetic enzymes play in CRC pathogenesis, particularly those that govern chromatin components in the promoter regions of tumor suppressors and oncogenes. Here, we delineate the relationship between CRC-associated epigenetic marks, their modifying enzymes, and the classification of CRC into distinct molecular pathways or subtypes. Moreover, we discuss some of the most prominent methyltransferases, demethylases, acetyltransferases, and deacetylases, which have been targeted for preclinical and clinical CRC treatment. Notably, inhibitors against these epigenetic enzymes are a promising new class of anticancer drugs, with several obtaining Food and Drug Administration (FDA) approval for the treatment of blood and solid tumors. By highlighting the epigenetic molecular pathways leading to CRC development as well as providing an update on current CRC epigenetic therapies, this chapter sheds fresh insight into new and emerging avenues for future therapeutics.

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Investigation of polymorphism role in protein structure and function for selected cancer and diabetes disease; a rationale to selection of targets for insilico drug screening

Olowosoke,

Ibisanmi,

Eze

et al. 2023

Informatics in Medicine Unlocked

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A missense variant in EZH2 is associated with colorectal cancer risk in a Chinese population

Cited by 4 publications

References 25 publications

Analysis of Relationships between Immune Checkpoint and Methylase Gene Polymorphisms and Outcomes after Unrelated Bone Marrow Transplantation

Analysis of Relationships between Immune Checkpoint and Methylase Gene Polymorphisms and Outcomes after Unrelated Bone Marrow Transplantation

Epigenetic Biomarkers and Their Therapeutic Applications in Colorectal Cancer

Investigation of polymorphism role in protein structure and function for selected cancer and diabetes disease; a rationale to selection of targets for insilico drug screening

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