生物信息学技术在内分泌疾病研究中的应用
内分泌疾病简介
人体内分泌系统包括胰腺、甲状腺、甲状旁腺、松果体、下丘脑、肾上腺和垂体腺、卵巢和睾丸,同时还涉及众多针对激素做出反应或改良、代谢激素的器官。内分泌疾病是内分泌腺或内分泌组织本身的分泌功能和(或)结构异常时发生的症候群。还包括激素来源异常、激素受体异常和由于激素或物质代谢失常引起的生理紊乱所发生的症候群。常见的内分泌疾病有糖尿病,垂体瘤,高血脂,甲状腺炎以及糖原贮积症等。
生物信息学技术在内分泌疾病研究中的应用
近年来,内分泌代谢性疾病的诊断治疗以及发病分子机制在分子生物学(如基因组学,蛋白质组学,表观遗传学,代谢组学,以及生物信息学等)基础研究的推动下均获得巨大发展。生物信息学在数据分析,挖掘与整合的过程中扮演着重要的角色。代谢组学是近年来在系统生物学蓬勃开展的背景下发展起来的一门新兴学科。对代谢组学数据进行分析,通过反映整体的代谢指纹图谱,监测体内代谢网络的运行状态、诊断疾病、评价疗效、预测人体未来的健康发展趋势。如糖尿病的发生发展必然伴随着代谢产物改变,代谢组学技术为糖尿病代谢状态提供了一个全景信息,为实现其个性化的诊断和治疗提供思路。
应用举例-糖尿病研究
文献名称:Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps
分析领域:
- Metabolomics analysis: Draw metabolic fingerprints to assist in monitoring the running status of metabolic networks in the body, diagnosing diseases, and evaluating curative effects.
- Meta-analysis: by integrating phenotypes and environmental or genetic factors, mining factors related to the occurrence of endocrinology diseases.
- Genome-wide association analysis: mining genetic factors related to the occurrence of endocrinology diseases.
- Omics data analysis: Research on the pathogenesis of endocrine system diseases from all aspects.
- Biomarker and target discovery: Identify disease markers and biomarkers used to measure drug efficacy and mechanism of action.
- Build a database: Establish a database related to endocrinology diseases.
参考文献
- Anubha M, et al. Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps[J]. Nat Genet. Author manuscript; available in PMC 2018 Dec 10.
来源:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6287706/