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伊朗患者中与结直肠癌相关的单核苷酸变异:一项叙述性综述。

Single Nucleotide Variants Associated with Colorectal Cancer Among Iranian Patients: A Narrative Review.

作者信息

Jamshidi Mohammad, Mohammadi Pour Somayeh, Mahmoudian-Sani Mohammad-Reza

机构信息

Department of Laboratory Sciences, School of Allied Medicine, Lorestan University of Medical Sciences, Khorramabad, Iran.

Department of Obstetrics and Gynecology, School of Medicine Lorestan University of Medical Sciences, Khorramabad, Iran.

出版信息

Pharmgenomics Pers Med. 2020 Jun 3;13:167-180. doi: 10.2147/PGPM.S248349. eCollection 2020.

Abstract

Colorectal cancer has been considered as one of the complicated multi-stage processes after adenoma-carcinoma sequence. Therefore, studies of the molecular dysregulation basis could present information on the recognition of the potent biomarkers and treatment targets for this disease. Even though outcomes of the patients with colorectal cancer have been improved largely with current annual screening plans, it is necessary to have reliable prognostic biomarkers because of the disease heterogeneity. There is a significant relationship between SNP in IL1RN* 2 (IL1ra), -509 C/T (TGFB1), rs11556218 T>G and rs4778889 T/C (IL16), miRNA-binding site polymorphisms in IL16, rs4464148 (SMAD7), rs6983267 (EGF), GSTT1, TACG haplotype (CTLA4), 1793G> A (MTHFR), Leu/Leu genotype of (EXO1), -137 G/C (IL18), C/T genotype (XRCC3), I3434T (XRCC7), MGMT, C3435T (MDR1), ff genotype of FokI, 677CT+TT (MTHFR), G2677T/A (MDR1) and CRC. Increased risk has been observed in VDR ApaI genotype "aa". Finally, the protective effect has been explored in the TACA haplotype (CTLA4). According to the findings, the genetic polymorphisms in the immunity-associated genes are related to the CRC amongst the Iranian patients. Therefore, more large-scale functional investigations are necessary for confirming the results.

摘要

结直肠癌被认为是腺瘤-癌序列后的复杂多阶段过程之一。因此,对分子失调基础的研究可以提供有关识别该疾病有效生物标志物和治疗靶点的信息。尽管目前的年度筛查计划已使结直肠癌患者的治疗效果有了很大改善,但由于疾病的异质性,仍需要可靠的预后生物标志物。IL1RN*2(IL1ra)中的单核苷酸多态性(SNP)、-509 C/T(TGFB1)、rs11556218 T>G和rs4778889 T/C(IL16)、IL16中的微小RNA结合位点多态性、rs4464148(SMAD7)、rs6983267(EGF)、GSTT1、TACG单倍型(CTLA4)、1793G>A(MTHFR)、(EXO1)的Leu/Leu基因型、-137 G/C(IL18)、C/T基因型(XRCC3)、I3434T(XRCC7)、MGMT、C3435T(MDR1)、FokI的ff基因型、677CT+TT(MTHFR)、G2677T/A(MDR1)与结直肠癌之间存在显著关系。在维生素D受体ApaI基因型“aa”中观察到风险增加。最后,在TACA单倍型(CTLA4)中探索了保护作用。根据这些发现,免疫相关基因的基因多态性与伊朗患者的结直肠癌有关。因此,需要更多大规模的功能研究来证实这些结果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f0f3/7280057/21b649e1aaeb/PGPM-13-167-g0001.jpg

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