基于生物信息学分析原发性醛固酮增多症潜在的核心基因
Analysis of Potential Core Genes in Primary Aldosteronism Based on Bioinformatics Analysis
摘要: 目的:运用生物信息学方法分析原发性醛固酮增多症的关键基因及涉及的信号通路。方法:从公共基因表达数据库(GEO)中下载原发性醛固酮增多症(primary aldosteronism, PA)的基因表达谱芯片GSE60042,和DNA甲基化芯片GSE60043。通过R语言对PA的转录组进行差异表达分析,对PA DNA的甲基化芯片进行差异甲基化基因筛选。通过对差异表达基因GO和KEGG富集分析筛选PA的核心基因。结论:原发性醛固酮增多症的核心基因可能是ABCB4、AQP2、ARG2和CLRN1。
Abstract: Objective: To analyze the key genes and signaling pathways of primary aldosteronism by bioinfor-matics analysis. Methods: GSE60042 gene expression microarray and GSE60043 DNA methylation microarray were used to profile primary aldosteronism from the public gene expression database (GEO). Differential expression analysis of the transcriptome of PA was performed by R language, and methylation microarrays of PA DNA were screened for differentially methylated genes. Core genes were screened by GO and KEGG enrichment analysis of differentially expressed genes. Conclusion: ABCB4, AQP2, ARG2 and CLRN1 may be the core genes of primary aldosteronism.
文章引用:代黎明, 曹彩霞, 颜廷屹, 孔越, 徐音飞. 基于生物信息学分析原发性醛固酮增多症潜在的核心基因[J]. 临床医学进展, 2023, 13(6): 9958-9968. https://doi.org/10.12677/ACM.2023.1361392

参考文献

[1] 医学会内分泌学分会. 原发性醛固酮增多症诊断治疗的专家共识(2020版) [J]. 中华内分泌代谢杂志, 2020, 36(9): 727-736.
[2] 黄素兰, 匡泽民, 陈国军, 等. 原发性醛固酮增多症靶器官损害的研究进展[J]. 心肺血管病杂志, 2016, 35(9): 765-767.
[3] Reincke, M., et al. (2021) Diagnosis and Treatment of Primary Aldosteronism. The Lancet Diabetes & Endocrinology, 9, 876-892. [Google Scholar] [CrossRef
[4] Moore, L.D., Le, T. and Fan, G. (2013) DNA Methylation and Its Basic Function. Neuropsychopharmacology, 38, 23-38. [Google Scholar] [CrossRef] [PubMed]
[5] 高志杰, 姜茜, 陈倩, 等. 第2代测序技术在甲基丙二酸尿症以及苯丙酮尿症诊断中的应用[J]. 医学研究杂志, 2015, 44(3): 111-114+168.
[6] Shulaev, V. (2006) Metabolomics Technology and Bioinformatics. Briefings in Bioinformatics, 7, 128-139. [Google Scholar] [CrossRef] [PubMed]
[7] Gao, Y., et al. (2021) The Bioinformatics Analysis of Aldoste-rone-Producing Adenoma and Verification of Differentially Expressed Genes. International Journal of Endocrinology, 2021, Article ID: 4926323. [Google Scholar] [CrossRef
[8] 《原发性醛固酮增多症诊断治疗指南》解读[J]. 中国社区医师, 2011(6): 11.
[9] Remde, H., Hanslik, G., Rayes, N. and Quinkler, M. (2015) Glucose Metabolism in Primary Aldos-teronism. Hormone and Metabolic Research, 47, 987-993. [Google Scholar] [CrossRef] [PubMed]
[10] Chen, W., Li, F., He, C., Zhu, Y. and Tan, W. (2014) Elevated Prevalence of Abnormal Glucose Metabolism in Patients with Pri-mary Aldosteronism: A Meta-Analysis. Irish Journal of Medical Science, 183, 283-291. [Google Scholar] [CrossRef] [PubMed]
[11] Adolf, C., et al. (2016) Worsening of Lipid Metabolism after Successful Treatment of Primary Aldosteronism. Endocrine, 54, 198-205. [Google Scholar] [CrossRef] [PubMed]
[12] Yang, Y., et al. (2019) Primary Aldosteronism: KCNJ5 Mutations and Adrenocortical Cell Growth. Hypertension, 74, 809-816. [Google Scholar] [CrossRef
[13] Backman, S., et al. (2019) RNA Sequencing Pro-vides Novel Insights into the Transcriptome of Aldosterone Producing Adenomas. Scientific Reports, 9, Article No. 6269. [Google Scholar] [CrossRef] [PubMed]
[14] Scholl, U.I. (2022) Genetics of Primary Aldosteronism. Hyper-tension, 79, 887-897. [Google Scholar] [CrossRef
[15] Kamilaris, C.D.C., Hannah-Shmouni, F. and Stratakis, C.A. (2020) Adrenocortical Tumorigenesis: Lessons from Genetics. Best Practice & Research Clinical Endo-crinology & Metabolism, 34, Article ID: 101428. [Google Scholar] [CrossRef] [PubMed]
[16] Oliver, G.R., Hart, S.N. and Klee, E.W. (2015) Bioinformatics for Clinical Next Generation Sequencing. Clinical Chemistry, 61, 124-135. [Google Scholar] [CrossRef] [PubMed]
[17] Clough, E. and Barrett, T. (2016) The Gene Expression Omni-bus Database. In: Mathé, E. and Davis, S., Eds., Statistical Genomics: Methods and Protocols, Springer, Berlin, 93-110. [Google Scholar] [CrossRef] [PubMed]
[18] Olsen, J.A., Alam, A., Kowal, J., Stieger, B. and Locher, K.P. (2020) Structure of the Human Lipid Exporter ABCB4 in a Lipid Environment. Nature Structural & Molecular Biology, 27, 62-70. [Google Scholar] [CrossRef] [PubMed]
[19] Gordo-Gilart, R., et al. (2016) Heterozygous ABCB4 Mutations in Children with Cholestatic Liver Disease. Liver International, 36, 258-267. [Google Scholar] [CrossRef] [PubMed]
[20] Davit-Spraul, A., Gonzales, E., Baussan, C. and Jacquemin, E. (2010) The Spectrum of Liver Diseases Related to ABCB4 Gene Mutations: Pathophysiology and Clinical Aspects. Seminars in Liver Disease, 30, 134-146. [Google Scholar] [CrossRef] [PubMed]
[21] Hasler, U., Leroy, V., Martin, P.-Y. and Féraille, E. (2009) Aqua-porin-2 Abundance in the Renal Collecting Duct: New Insights from Cultured Cell Models. American Journal of Physi-ology-Renal Physiology, 297, F10-F18. [Google Scholar] [CrossRef] [PubMed]
[22] Niu, D., Bai, Y.H., Yao, Q., Zhou, L.X., Huang, X.Z. and Zhao, C. (2020) AQP2 as a Diagnostic Immunohistochemical Marker for Pheochromocytoma and/or Paraganglioma. Gland Surgery, 2, 200-208. [Google Scholar] [CrossRef] [PubMed]
[23] Ren, Y., et al. (2022) Arginase: Biological and Therapeutic Implica-tions in Diabetes Mellitus and Its Complications. Oxidative Medicine and Cellular Longevity, 2022, Article ID: 2419412. [Google Scholar] [CrossRef] [PubMed]