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西班牙东南部喉癌患者中谷胱甘肽S-转移酶M1(GSTM1)、谷胱甘肽S-转移酶T1(GSTT1)、细胞色素P450 1A1(CYP1A1)基因的无效多态性基因型以及CYP1A1*2A(rs4646903 T>C)/CYP1A1*2C(rs1048943 A>G)基因型

Genotype of Null Polymorphisms in Genes GSTM1, GSTT1, CYP1A1, and CYP1A1*2A (rs4646903 T>C)/CYP1A1*2C (rs1048943 A>G) in Patients with Larynx Cancer in Southeast Spain.

作者信息

Sánchez-Siles Mariano, Pelegrín-Hernández Juan Pablo, Hellin-Meseguer Diego, Guerrero-Sánchez Yolanda, Corno-Caparrós Andrés, Cabezas-Herrera Juan, Pastor-Quirante Francisco, Fernández-Ruiz Juan Alberto, Aliaga-Sánchez Alfonso, Lucero-Berdugo Mayra, Camacho-Alonso Fabio

机构信息

In Private Oral Surgery and Medicine Practice, 30001 Murcia, Spain.

Otorhinolaryngology, University Hospital Virgen de la Arrixaca, 30005 Murcia, Spain.

出版信息

Cancers (Basel). 2020 Sep 1;12(9):2478. doi: 10.3390/cancers12092478.

Abstract

BACKGROUND

some types of cancer have been associated with the presence of single nucleotide polymorphisms (SNPs) of some genes that encode enzymes: glutathione-S transferase (GST), whose alteration leads to loss of function and a lower capacity to eliminate toxic GSTM1 and GSTT1 null genotypes; SNPs causing loss of function of CYP1A1 or CYP1A1-2 cytochrome P450 enzymes related with a lower capacity to deactivate hydrocarbons related to smoking, which involves a higher risk of developing some smoking-dependent cancers including larynx cancer.

OBJECTIVE

to compare the presence of null SNPs in genes GSTM1, GSTT1, and CYP1A1 rs 4646903 T>C, and CYP1A1-2 RS1048943 A>G in patients with hypopharyngeal and larynx cancer with a healthy control group.

MATERIALS AND METHOD

The study included a total of 80 patients with hypopharyngeal and laryngeal cancer and 23 healthy subjects. Genomic DNA was obtained from saliva samples, determining genotype GSTM1 (present +, or null -), GSTT1 (present + or null -). Polymorphisms (SNP) in CYP1A1 T>C (present + CC, or absent - TC/TT), and CYP1A1-2 A>G (present + GG, or absent - AG/AA).

RESULTS

the mean age of patients with larynx cancer was 62 years and of control subjects 63 years. Of the total sample, over 95% were men, and over 90% were smokers. The presence of null genotypes for GTM1 was 50% in patients with larynx cancer ( = 0.042), while GSTT1 was 88.75% ( = 0.002). CYP1A1 rs4646903 T>C polymorphisms were detected in 100% of cases of larynx cancer and 17.39% of healthy subjects ( > 0.001).

CONCLUSIONS

patients with larynx cancer present more gene GSTM1 and GSTT1 null polymorphisms, and CYP1A1 rs4646903 T>C polymorphisms.

摘要

背景

某些类型的癌症与一些编码酶的基因的单核苷酸多态性(SNP)有关:谷胱甘肽 - S转移酶(GST),其改变导致功能丧失以及清除有毒的GSTM1和GSTT1无效基因型的能力降低;导致细胞色素P450酶CYP1A1或CYP1A1 - 2功能丧失的SNP,与使与吸烟相关的碳氢化合物失活的能力降低有关,这涉及患包括喉癌在内的一些与吸烟相关癌症的更高风险。

目的

比较下咽癌和喉癌患者与健康对照组中GSTM1、GSTT1基因以及CYP1A1 rs4646903 T>C和CYP1A1 - 2 RS1048943 A>G基因中无效SNP的存在情况。

材料与方法

该研究共纳入80名下咽癌和喉癌患者以及23名健康受试者。从唾液样本中获取基因组DNA,确定GSTM1基因型(存在 +,或无效 -)、GSTT1基因型(存在 + 或无效 -)。CYP1A1 T>C多态性(存在 + CC,或不存在 - TC/TT)以及CYP1A1 - 2 A>G多态性(存在 + GG,或不存在 - AG/AA)。

结果

喉癌患者的平均年龄为62岁,对照组受试者的平均年龄为63岁。在整个样本中,超过95%为男性,超过90%为吸烟者。喉癌患者中GSTM1无效基因型的存在率为50%(P = 0.042),而GSTT1为88.75%(P = 0.002)。在100%的喉癌病例和17.39%的健康受试者中检测到CYP1A1 rs4646903 T>C多态性(P > 0.001)。

结论

喉癌患者存在更多的GSTM1和GSTT1基因无效多态性以及CYP1A1 rs4646903 T>C多态性。

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