Analysis of Association Between MGMT and p53 Gene Single Nucleotide Polymorphisms and Laryngeal Cancer

Lv, Yingda; Jia, Chuanliang; Jiang, Aihua; Zhang, Hua; Wang, Yunqiang; Liu, Feifei; Yang, Linlin; Sun, Yan; Lv, Runli; Song, Xuejiao

doi:10.21873/anticanres.11834

Cited by 4 publications

(3 citation statements)

References 13 publications

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“…The allelic and genotypic frequencies of all three SNPs were calculated by Haploview software [ 22 ]. He (gene heterozygosity), Ne (effective allele numbers), and PIC (polymorphism information content) were calculated according to Nei’s methods, respectively [ 23 , 24 ].…”

Section: Methodsmentioning

confidence: 99%

KAT2B Gene Polymorphisms Are Associated with Body Measure Traits in Four Chinese Cattle Breeds

Lin

Chen

et al. 2022

Animals

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Identifying molecular markers related to growth characteristics or meat quality is significant for improving beef cattle breeds. K(lysine) acetyltransferase 2B (KAT2B) is a transcriptional co-activator regulating the acetylation modification of histones, which may be involved in the development and metabolism of muscle and adipose. However, investigations of KAT2B genetic variations in Chinese native cattle are still limited. This study aimed to identify crucial single nucleotide polymorphisms (SNPs) influencing the body measurements of Chinese native cattle. Biological evolution and conservation analysis showed that KAT2B was highly conserved among the ruminants. By qPCR assay, KAT2B gene expression was found to be spatiotemporally specific in bovine tissues such as adipose and liver. By the RFLP-PCR method, three SNPs of KAT2B (g.T61908C, g.T62131C, and g.C73406T) were identified in 827 individuals of four Chinese cattle breeds, including Qinchuan (n = 658), Fu (n = 52), Yak (n = 48), and Chaidam (n = 69) cattle. Association analysis between these KAT2B polymorphisms and the body measurements of Chinese native cattle revealed significant observations. The genetic effects of g.T61908C, g.T62131C, and g.C73406T on the associated phenotypes were illustrated in each breed. In Qinchuan cattle, g.T62131C was significantly associated with better body height, chest width, hip width, and withers height, for which TC and/or TT were the advantageous genotype. In Fu cattle, TT genotype of g.T61908C was associated to better body length, while individuals with TT or CC of g.T62131C showed higher circumference of cannon bone than those with TC genotype. In Yak, individuals with TT genotype of g.C73406T had heavier body weight. In Chaidam cattle, TC genotype of g.C73406T was associated to superior body weight, while CC genotype of g.C73406T was associated to superior chest girth and circumference of cannon bone. These findings suggest that KAT2B gene polymorphisms can be used as the molecular markers for the early molecular marker-assisted selection in beef cattle breeding programs.

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Section: Methodsmentioning

confidence: 99%

KAT2B Gene Polymorphisms Are Associated with Body Measure Traits in Four Chinese Cattle Breeds

Lin

Chen

et al. 2022

Animals

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“…In a series of 118 patients with GBM, rs1625649 was found in 37% of patients with the “AA” genotype being associated with more favorable progression free survival and lower MGMT protein levels in patients with MGMT-methylated GBM 18 . Considering cancers, this SNP was not significantly associated with squamous cell carcinoma of larynx in Chinese population 10 . Moreover, it was proposed that some haplotypes of MGMT may influence the sensitivity to alkylating agents more than the SNPs alone 19 .…”

Section: Discussionmentioning

confidence: 80%

“…Alkylating agents can lead to highly harmful mismatch in O6-methylguanineDNA (O6-MeG) during DNA replication causing apoptosis and cell death 10 . O6-Methylguanine DNA methyltransferase (MGMT), as a DNA repair protein, removes alkyl adducts, prevents the formation of cross-links and G>A mutations in the genome, thereby causing resistance to alkylating drugs 11 .…”

Section: Introductionmentioning

confidence: 99%

MGMT Gene rs1625649 Polymorphism in Iranian Patients with Brain Glioblastoma: A Case Control Study

Safaei¹,

Mojtahedi²,

Hanaei³

et al. 2022

AJMB

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Glioblastoma (GBM) is the most common and aggressive primary malignant brain tumor with poor prognosis and high potential of dispersion to other brain tissues in adult. Effective and modern choices of treatment including chemotherapy with alkylating agents marginally extend survival of GBM. However, alkylating agents can lead to highly harmful mismatch during DNA replication causing apoptosis and cell death. Accordingly, O6-Methylguanine-DNA methyltransferase (MGMT) removes alkyl adducts, thereby causing resistance to alkylating drugs. Single-Nucleotide Polymorphisms (SNPs) in MGMT promoter region may play a role in the regulation of MGMT expression and prediction of glioma development risk. In order to evaluate the clinical significance of rs1625649 SNP in the MGMT promoter region of glioblastoma, genomic DNA from a series of 54 patients with GBM and 50 healthy individuals in Iranian population were collected for tetra ARMS PCR amplification. None of the "A" or "C" alleles were associated with tumor occurrence, the "AA" genotype was more frequent in healthy subjects, and the "AC" genotype was 4.6 times more common in patients with GBM. The longest survival time was observed in the "CC" genotype; however, this difference was not statistically significant. On the other hand, homozygous rs1625649 (AA genotype) was significantly associated with a better survival than the cases with heterozygous rs1625649 (CA genotype) or wild type rs1625649 (CC genotype), predicting better response to temozolomide-based chemotherapy.

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Quality Control Measures and Validation in Gene Association Studies: Lessons for Acute Illness

Cohen

Lamparello

Schimunek

et al. 2020

Shock

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Acute illness is a complex constellation of responses involving dysregulated inflammatory and immune responses, which are ultimately associated with multiple organ dysfunction. Gene association studies have associated single-nucleotide polymorphisms (SNPs) with clinical and pharmacological outcomes in a variety of disease states, including acute illness. With approximately 4 to 5 million SNPs in the human genome and recent studies suggesting that a large portion of SNP studies are not reproducible, we suggest that the ultimate clinical utility of SNPs in acute illness depends on validation and quality control measures. To investigate this issue, in December 2018 and January 2019 we searched the literature for peer-reviewed studies reporting data on associations between SNPs and clinical outcomes and between SNPs and pharmaceuticals (i.e., pharmacogenomics) published between January 2011 to February 2019. We review key methodologies and results from a variety of clinical and pharmacological gene association studies, including trauma and sepsis studies, as illustrative examples on current SNP association studies. In this review article, we have found three key points which strengthen the potential accuracy of SNP association studies in acute illness and other diseases: providing evidence of following a protocol quality control method such as the one in Nature Protocols or the OncoArray QC Guidelines; enrolling enough patients to have large cohort groups; and validating the SNPs using an independent technique such as a second study using the same SNPs with new patient cohorts. Our survey suggests the need to standardize validation methods and SNP quality control measures in medicine in general, and specifically in the context of complex disease states such as acute illness.

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Analysis of Association Between MGMT and p53 Gene Single Nucleotide Polymorphisms and Laryngeal Cancer

Abstract: MGMT gene polymorphism appears to be associated with the incidence of laryngeal cancer.

Cited by 4 publications

References 13 publications

KAT2B Gene Polymorphisms Are Associated with Body Measure Traits in Four Chinese Cattle Breeds

KAT2B Gene Polymorphisms Are Associated with Body Measure Traits in Four Chinese Cattle Breeds

MGMT Gene rs1625649 Polymorphism in Iranian Patients with Brain Glioblastoma: A Case Control Study

Quality Control Measures and Validation in Gene Association Studies: Lessons for Acute Illness

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