Landscape of Germline Genetic Variants in AGT, MGMT, and TP53 in Mexican Adult Patients with Astrocytoma

Carlos-Escalante, José Alberto; Gómez-Flores-Ramos, Liliana; Bian, Xiaopeng; Perdomo‐Pantoja, Alexander; Andrade, Kelvin C. de; Mejía-Pérez, Sonia Iliana; Cacho-Díaz, Bernardo; González‐Barrios, Rodrigo; Reynoso-Noverón, Nancy; Soto-Reyes, Ernesto; Sánchez-Correa, Thalía Estefania; Guerra-Calderas, Lissania; Yan, Chunhua; Chen, Qingrong; Castro-Hernández, Clementina; Vidal-Millán, Silvia; Taja‐Chayeb, Lucía; Gutiérrez, Olga; Álvarez-Gómez, Rosa María; Gómez-Amador, Juan Luis; Ostrosky‐Wegman, Patricia; Mohar‐Betancourt, Alejandro; Herrera-Montalvo, Luis Alonso; Corona, Teresa; Meerzaman, Daoud; Wegman-Ostrosky, Talía

doi:10.1007/s10571-020-00901-7

Cited by 6 publications

(6 citation statements)

References 44 publications

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“…These SNPs can be found in exons or introns and may increase or decrease susceptibility to diseases (López‐Cortés et al., 2017). After searching the NCBI database for information on the AGT gene rs4762, rs699 and rs1926723 variations, it was found that AGT gene is located at position 1q42–43 on chromosome 1 and has a length of 13 kb separated into five exons and four introns (Carlos‐Escalante et al., 2021; Vázquez‐Moreno et al., 2021). Specifically for the rs1926723 variation and using GRCh37 as the genome build, it was determined that it is located in the first intron and has two SNPs present: T > C/T > G at g.230840096.…”

Section: Discussionmentioning

confidence: 99%

Correlation of single nucleotide polymorphisms in the AGT gene with susceptibility to systemic lupus erythematosus in Northeast China

Wu,

Zhang,

Lin

et al. 2024

Int J Immunogenetics

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To investigate the correlation between susceptibility to systemic lupus erythematosus (SLE) and single nucleotide polymorphisms (SNPs) rs699, rs4762 and rs1926723 in the AGT gene in the population of Northeast China, while also introducing a new method for early detection of SLE. A total of 856 cases of SLE patients and healthy volunteers who attended the First Affiliated Hospital of Harbin Medical University from January 2020 to December 2022 were recruited. Clinical information and biood samples were collected from particpants in this study. SNaPshot sequencing technology was used to sequence the bases of the rs699, rs4762 and rs1926723 in the AGT gene. The genetic stability of SNPs was analysed by means of Hardy–Weinberg (HWE) genetic equilibrium. The study examined the correlation between genetically stable SNPs and susceptibility to SLE using logistic regression analysis.Rs699 did not adhere to the principles of the HWE genetic equilibrium (p < .01). Conversely, both rs4762 and rs1926723 conformed to the HWE genetic equilibrium (p > .05). However, no significant differences in genotypes and alleles frequencies of the rs4762 were observed between the two groups (p > .05). Furthermore, there was a significant difference in the distribution of AG, GG genotypes frequency and G allele frequency at the rs1926723 between the two groups (p < .001). Individuals with AG and GG genotypes and the G allele had a significantly lower frequency of SLE, indicating a potential genetic protective factor against susceptibility to the SLE.The SNPs rs1926723 may be linked to the susceptibility to SLE, and the AG, GG genotypes and the G allele may be important protective factors for the development of SLE in Northeast China.

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Section: Discussionmentioning

confidence: 99%

Correlation of single nucleotide polymorphisms in the AGT gene with susceptibility to systemic lupus erythematosus in Northeast China

Wu,

Zhang,

Lin

et al. 2024

Int J Immunogenetics

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Section: Discussionmentioning

confidence: 99%

“…All these cases carried a pathogenic variant of TP53, further suggesting the importance of TP53 mutations in astrocytoma. Previous studies indicated that the TP53 rs4968187 variant was associated with the risk of developing astrocytoma, and the TP53 rs78378222 variant was significantly connected with a higher risk of glioblastoma [7,8]. By analyzing the genetic alterations in diffuse low-grade gliomas, Aoki et al found that altered RB pathway genes including CDKN2A and CDK4 could be independent predictors of poor survival in IDH-mutant astrocytomas [9].…”

Section: Discussionmentioning

confidence: 99%

Case Report: Clinicopathological and Genetic Features of IDH-Mutant Brainstem Glioma in Adults: Report of Five Cases

Zhou¹,

Lai²,

Yang³

et al. 2022

Pathol. Oncol. Res.

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Adult brainstem gliomas are rare central nervous system tumors that represent a heterogeneous group of tumors. Somatic IDH mutations are uncommon in adult brainstem gliomas and there are few relevant clinical studies. Here, we reported five patients with IDH1 mutations associated with brainstem gliomas, including four cases of IDH1 R132H mutations and one case of R132G mutation. All patients were treated with focal intensity-modulated radiation therapy (IMRT) with concurrent temozolomide (TMZ). One patient died, one relapsed, and three survived to date. All these cases carried a pathogenic variant of TP53, among whom 1 harbored ATRX mutation and 1 had H3K27M mutation. Moreover, we also found some genes related to a worse prognosis, such as CDK4/6 amplification. These findings demonstrate that the specific characteristics of IDH-mutant brainstem gliomas should be considered in diagnostic workflows to make therapeutic regimens and improve the prognosis.

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“…Conditional inactivation of NF1, phosphatase and tensin homolog (PTEN), and tumor protein p53 (TP53) tumor suppressor genes in murine models has induced the formation of malignant astrocytomas [27,28]. Carlos-Escalante et al [29] found an association between genetic variants in angiotensinogen (AGT, involved in angiogenesis), TP53 (tumor suppressor), and MGMT (DNA repair) and the risk of developing astrocytoma in a case-control study performed in 49 Mexican patients.…”

Section: Astrocytoma Hereditary and Environmental Risk Factorsmentioning

confidence: 99%

Update for astrocytomas: medical and surgical management considerations

Willman

Figg

et al. 2023

Explor Neurosci

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Astrocytomas include a wide range of tumors with unique mutations and varying grades of malignancy. These tumors all originate from the astrocyte, a star-shaped glial cell that plays a major role in supporting functions of the central nervous system (CNS), including blood-brain barrier (BBB) development and maintenance, water and ion regulation, influencing neuronal synaptogenesis, and stimulating the immunological response. In terms of epidemiology, glioblastoma (GB), the most common and malignant astrocytoma, generally occur with higher rates in Australia, Western Europe, and Canada, with the lowest rates in Southeast Asia. Additionally, significantly higher rates of GB are observed in males and non-Hispanic whites. It has been suggested that higher levels of testosterone observed in biological males may account for the increased rates of GB. Hereditary syndromes such as Cowden, Lynch, Turcot, Li-Fraumeni, and neurofibromatosis type 1 have been linked to increased rates of astrocytoma development. While there are a number of specific gene mutations that may influence malignancy or be targeted in astrocytoma treatment, O6-methylguanine-DNA methyltransferase (MGMT) gene function is an important predictor of astrocytoma response to chemotherapeutic agent temozolomide (TMZ). TMZ for primary and bevacizumab in the setting of recurrent tumor formation are two of the main chemotherapeutic agents currently approved in the treatment of astrocytomas. While stereotactic radiosurgery (SRS) has debatable implications for increased survival in comparison to whole-brain radiotherapy (WBRT), SRS demonstrates increased precision with reduced radiation toxicity. When considering surgical resection of astrocytoma, the extent of resection (EoR) is taken into consideration. Subtotal resection (STR) spares the margins of the T1 enhanced magnetic resonance imaging (MRI) region, gross total resection (GTR) includes the margins, and supramaximal resection (SMR) extends beyond the margin of the T1 and into the T2 region. Surgical resection, radiation, and chemotherapy are integral components of astrocytoma treatment.

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Landscape of Germline Genetic Variants in AGT, MGMT, and TP53 in Mexican Adult Patients with Astrocytoma

Cited by 6 publications

References 44 publications

Correlation of single nucleotide polymorphisms in the AGT gene with susceptibility to systemic lupus erythematosus in Northeast China

Correlation of single nucleotide polymorphisms in the AGT gene with susceptibility to systemic lupus erythematosus in Northeast China

Case Report: Clinicopathological and Genetic Features of IDH-Mutant Brainstem Glioma in Adults: Report of Five Cases

Update for astrocytomas: medical and surgical management considerations

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