8q24和20q13染色体带在结直肠癌中预后和功能价值的可能性

IF 1 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY
Seyed Ahmadreza Siadat
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引用次数: 0

摘要

结直肠癌(CRC)仍然是一个主要的全球健康问题,特别是考虑到其在年轻人中的发病率不断上升。虽然全基因组关联研究(GWAS)已经确定了许多crc相关多态性,但它们的空间分布和功能含义尚未完全了解。这项研究检测了1346个与crc相关的染色体带多态性的位置。结果显示,13条染色体带存在显著的非随机聚类:1q41、6p21、8q24、9q34、10p14、10q25、11q12、12p13、15q13、18q21、19q13、20p12和20q13。对这些条带内基因的功能富集分析揭示了几个基因本体(GO)术语和京都基因与基因组百科全书(KEGG)途径。互惠染色体富集证实了许多这些术语和途径并不是随机定位在同一条带内,突出了它们潜在的生物学意义。使用TCGA数据进行生存分析,确定了3个KEGG通路和33个GO术语,它们被映射到与预后不良显著相关的13个波段中的9个。值得注意的是,8q24和20q13区域富集了差异表达基因和生存相关项,但对高体细胞突变率的基因没有显著富集。这些结果表明8q24和20q13是调控热点而不是突变驱动区域。总的来说,这种综合方法确定了可能导致遗传性CRC风险和进展的功能和临床相关基因组区域,为开发诊断和预后生物标志物提供了有价值的靶点。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
The possibility of prognostic and functional values of the 8q24 and 20q13 chromosomal bands in colorectal cancer.

Colorectal cancer (CRC) remains a major global health concern, especially given its increasing incidence among younger individuals. While genome-wide association studies (GWAS) have identified numerous CRC-associated polymorphisms, their spatial distribution and functional implications are not fully understood. This study examined the locations of 1,346 CRC-linked polymorphisms across chromosomal bands. The results revealed significant nonrandom clustering across thirteen chromosomal bands: 1q41, 6p21, 8q24, 9q34, 10p14, 10q25, 11q12, 12p13, 15q13, 18q21, 19q13, 20p12, and 20q13. Functional enrichment analysis of genes within these bands revealed several Gene Ontology (GO) terms and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways. Reciprocal chromosomal enrichment confirmed that many of these terms and pathways were not randomly localized within the same bands, highlighting their potential biological significance. Survival analysis using TCGA data identified three KEGG pathways and 33 GO terms mapped to nine of the thirteen bands that were significantly associated with poor prognosis. Notably, the 8q24 and 20q13 regions were enriched for differentially expressed genes and survival-associated terms yet showed no significant enrichment for genes with high somatic mutation rates. These results imply that 8q24 and 20q13 act as regulatory hotspots rather than mutation-driven regions. Overall, this integrative approach identified functionally and clinically relevant genomic regions that may contribute to inherited CRC risk and progression, providing valuable targets for the development of diagnostic and prognostic biomarkers.

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来源期刊
Molecular Biology Research Communications
Molecular Biology Research Communications BIOCHEMISTRY & MOLECULAR BIOLOGY-
CiteScore
3.00
自引率
0.00%
发文量
12
期刊介绍: “Molecular Biology Research Communications” (MBRC) is an international journal of Molecular Biology. It is published quarterly by Shiraz University (Iran). The MBRC is a fully peer-reviewed journal. The journal welcomes submission of Original articles, Short communications, Invited review articles, and Letters to the Editor which meets the general criteria of significance and scientific excellence in all fields of “Molecular Biology”.
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