Genome-Wide Study of Diabetes Mellitus (Type 2)–Associated Genes in Homo sapiens (Human)

IF 2.2 4区医学 Q2 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Journal of Gene Medicine Pub Date : 2025-06-04 DOI:10.1002/jgm.70025

Rizwan Shaukat, Amjad Hussain, Muhammad Sajid Hamid Akash, Kanwal Rehman, Muhammad Imran, Enas Ali, Meher Ali, Khayala Mammadova, Afnan Jan, Ajmal Khan, Shoaib Khan, Muhammad Adnan Ayub, Munzer Ullah, Ammara Sohail, Hafsa Arshad

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引用次数: 0

Abstract

Background

Type 2 diabetes mellitus (T2DM) is a metabolic disorder characterized by insulin resistance and impaired secretion, necessitating the identification of new markers to target its development and complications.

Methods

This study conducted a genome-wide study on diabetes mellitus (type 2)-associated genes in Homo sapiens to better understand their role and explore their potential mechanisms. Twenty genes linked to type 2 diabetes were found in this study, and the various analyses, including chromosome localization, synteny analysis, physiochemical features, phylogenetic analysis, motif analysis, protein–protein interactions, gene structure, and expression profiles, were examined using a variety of bioinformatics tools.

Results

The findings revealed that the FOS gene was highly acidic with an isoelectric point (pI = 4.77); however, the VEGFA gene was greatly basic with an isoelectric point (pI = 9.24) as compared to the chosen genes in H. sapiens. A chromosomal localization analysis showed that diabetes-associated genes were randomly positioned on human chromosomes, with four genes (ELMO1, GCK, GNAI, and CYP3A4) on Chr7, while seven individual genes included PPM1K, TDO2, GALNT7, PIK3R1, VEGFA, PTGS1, TCF7L2, GNG3, SIRT4, and SSTR2 on chromosome numbers 5, 6, 9, 10, 11, 12, and 17, respectively. There were no tandem duplication events detected. Thirteen taxa (consisting of 26 genes) were identified by a phylogenetic tree, and seven taxa revealed orthologous conservation. Motif analysis showed the top 5 motifs were expected with identical frequency except motif 1 and motif 2. Strong interactions were seen between the ELMO1 gene and all predictive partners bearing a higher bitscore value of 1439.5 than other genes indicated by protein–protein interaction. Regarding gene structure analysis, the CHL1 gene showed a maximum number of 26 exons as compared with other genes in its structure. The highest expression level was exhibited by the CYP3A4 gene in the liver and pancreas as compared with other genes.

Conclusions

The present study provides insight into diabetes mellitus (type 2)–associated genes and can serve as a basis for their functional analysis.

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智人糖尿病（2型）相关基因的全基因组研究

背景2型糖尿病（T2DM）是一种以胰岛素抵抗和胰岛素分泌受损为特征的代谢性疾病，需要寻找新的标志物来针对其发展和并发症。方法对智人糖尿病（2型）相关基因进行全基因组研究，进一步了解其作用并探讨其潜在机制。在这项研究中发现了20个与2型糖尿病相关的基因，并使用各种生物信息学工具进行了各种分析，包括染色体定位，synteny分析，理化特征，系统发育分析，motif分析，蛋白-蛋白相互作用，基因结构和表达谱。结果FOS基因呈强酸性，具有等电点（pI = 4.77）；然而，与智人的选择基因相比，VEGFA基因非常基本，具有等电点（pI = 9.24）。染色体定位分析显示，糖尿病相关基因随机定位在人类染色体上，其中4个基因（ELMO1、GCK、GNAI和CYP3A4）位于Chr7上，7个个体基因包括PPM1K、TDO2、GALNT7、PIK3R1、VEGFA、PTGS1、TCF7L2、GNG3、SIRT4和SSTR2，分别位于第5、6、9、10、11、12和17号染色体上。没有检测到串联复制事件。系统发育树共鉴定出13个类群（26个基因），其中7个类群存在同源保护。基序分析显示，除基序1和基序2外，前5位基序的预期频率相同。ELMO1基因与所有预测伴侣之间存在较强的相互作用，其bitscore值为1439.5，高于蛋白-蛋白相互作用所显示的其他基因。在基因结构分析方面，CHL1基因与其他基因相比，其结构最多显示26个外显子。与其他基因相比，CYP3A4基因在肝脏和胰腺中的表达水平最高。结论本研究为糖尿病（2型）相关基因的研究提供了新的思路，并为其功能分析提供了基础。

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来源期刊

Journal of Gene Medicine 医学-生物工程与应用微生物

CiteScore

6.40

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： The aims and scope of The Journal of Gene Medicine include cutting-edge science of gene transfer and its applications in gene and cell therapy, genome editing with precision nucleases, epigenetic modifications of host genome by small molecules, siRNA, microRNA and other noncoding RNAs as therapeutic gene-modulating agents or targets, biomarkers for precision medicine, and gene-based prognostic/diagnostic studies. Key areas of interest are the design of novel synthetic and viral vectors, novel therapeutic nucleic acids such as mRNA, modified microRNAs and siRNAs, antagomirs, aptamers, antisense and exon-skipping agents, refined genome editing tools using nucleic acid /protein combinations, physically or biologically targeted delivery and gene modulation, ex vivo or in vivo pharmacological studies including animal models, and human clinical trials. Papers presenting research into the mechanisms underlying transfer and action of gene medicines, the application of the new technologies for stem cell modification or nucleic acid based vaccines, the identification of new genetic or epigenetic variations as biomarkers to direct precision medicine, and the preclinical/clinical development of gene/expression signatures indicative of diagnosis or predictive of prognosis are also encouraged.