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

被引：4

作者：

Alberto Carlos-Escalante, Jose ^{[1
]}

Gomez-Flores-Ramos, Liliana ^{[2
]}

Bian, Xiaopeng ^{[3
]}

Perdomo-Pantoja, Alexander ^{[4
]}

de Andrade, Kelvin Cesar ^{[5
]}

Liana Mejia-Perez, Sonia ^{[6
,7
]}

Cacho-Diaz, Bernardo ^{[8
]}

Gonzalez-Barrios, Rodrigo ^{[9
]}

Reynoso-Noveron, Nancy ^{[9
]}

Soto-Reyes, Ernesto ^{[10
]}

Estefania Sanchez-Correa, Thalia ^{[7
]}

Guerra-Calderas, Lissania ^{[10
]}

Yan, Chunhua ^{[3
]}

Chen, Qingrong ^{[3
]}

Castro-Hernandez, Clementina ^{[11
]}

Vidal-Millan, Silvia ^{[12
]}

Taja-Chayeb, Lucia ^{[9
]}

Gutierrez, Olga ^{[9
]}

Maria Alvarez-Gomez, Rosa ^{[12
]}

Luis Gomez-Amador, Juan ^{[7
]}

Ostrosky-Wegman, Patricia ^{[13
]}

Mohar-Betancourt, Alejandro ^{[11
]}

Alonso Herrera-Montalvo, Luis ^{[11
,14
]}

Corona, Teresa ^{[15
]}

Meerzaman, Daoud ^{[3
]}

Wegman-Ostrosky, Talia ^{[9
]}

机构：

[1] Univ Nacl Autonoma Mexico, Fac Med, PECEM MD PhD, Mexico City, DF, Mexico

[2] Catedras CONACYT Inst Nacl Salud Publ, Cuernavaca 62100, Morelos, Mexico

[3] NCI, Computat Genom & Bioinformat Grp, Ctr Biomed Informat & Informat Technol, NIH, Rockville, MD 20850 USA

[4] Johns Hopkins Univ, Sch Med, Dept Neurosurg, Baltimore, MD 21205 USA

[5] NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH, Rockville, MD 20850 USA

[6] Inst Nacl Neurol & Neurocirugia Manuel Velasco Su, Dept Ensenanza, Mexico City 13269, DF, Mexico

[7] Inst Nacl Neurol & Neurocirugia Manuel Velasco Su, Dept Neurocirugia, Mexico City 14269, DF, Mexico

[8] Inst Nacl Cancerol, Unidad Neurociencia, Mexico City 14080, DF, Mexico

[9] Inst Nacl Cancerol, Direcc Invest, Mexico City 14080, DF, Mexico

[10] Univ Autonoma Metropolitana Cuajimalpa, Dept Ciencias Nat, Mexico City 05370, DF, Mexico

[11] UNAM INCAN, Inst Invest Biomed, Unidad Epidemiol & Invest Biomed Canc, Mexico City 14080, DF, Mexico

[12] Inst Nacl Cancerol, Clin Canc Hereditario, Mexico City 14080, DF, Mexico

[13] Univ Nacl Autonoma Mexico, Inst Invest Biomed, Mexico City 04510, DF, Mexico

[14] Inst Nacl Med Genom, Direcc Gen, Mexico City 14610, DF, Mexico

[15] Inst Nacl Neurol & Neurocirugia Manuel Velasco Su, Lab Clin Enfermedades Neurodegenerat, Mexico City 14269, DF, Mexico

来源：

CELLULAR AND MOLECULAR NEUROBIOLOGY | 2021年 / 41卷 / 06期

关键词：

Astrocytoma; Germline genetic variant; Risk; Mexican population; TUMOR-GROWTH; RISK; ANGIOTENSINOGEN; ASSOCIATION; EXPRESSION; SYSTEM; POLYMORPHISMS; ANGIOGENESIS; METHYLATION; RS78378222;

D O I：

10.1007/s10571-020-00901-7

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Astrocytoma is the most common type of primary brain tumor. The risk factors for astrocytoma are poorly understood; however, germline genetic variants account for 25% of the risk of developing gliomas. In this study, we assessed the risk of astrocytoma associated with variants inAGT, known by its role in angiogenesis,TP53, a well-known tumor suppressor and the DNA repair geneMGMTin a Mexican population. A case-control study was performed in 49 adult Mexican patients with grade II-IV astrocytoma. Sequencing of exons and untranslated regions ofAGT,MGMT, andTP53from was carried in an Ion Torrent platform. Individuals with Mexican Ancestry from the 1000 Genomes Project were used as controls. Variants found in our cohort were then assessed in a The Cancer Genome Atlas astrocytoma pan-ethnic validation cohort. Variants rs1926723 located inAGT(OR 2.74, 1.40-5.36 95% CI), rs7896488 inMGMT(OR 3.43, 1.17-10.10 95% CI), and rs4968187 inTP53(OR 2.48, 1.26-4.88 95% CI) were significantly associated with the risk of astrocytoma after multiple-testing correction. This is the first study where theAGTrs1926723 variant,TP53rs4968187, andMGMTrs7896488 were found to be associated with the risk of developing an astrocytoma.

引用

页码：1285 / 1297

页数：13

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