遗传 ›› 2021, Vol. 43 ›› Issue (11): 1011-1022.doi: 10.16288/j.yczz.21-218

• 领域动态 • 上一篇    下一篇

家族性高胆固醇血症研究进展

蒋琬姿1(), 张丽雯2(), 贺彩红2,3, 阮梅花2, 季勇4(), 于建荣2,3(), 周红文1()   

  1. 1. 南京医科大学第一附属医院内分泌科,南京 210029
    2. 中国科学院上海生命科学信息中心,中国科学院上海营养与健康研究所,上海 200031
    3. 中国科学院大学,北京 100049
    4. 南京医科大学,南京 210029
  • 收稿日期:2021-06-22 修回日期:2021-08-12 出版日期:2021-11-20 发布日期:2021-09-06
  • 通讯作者: 季勇,于建荣,周红文 E-mail:1995jwz@sina.com;zhangliwen@sibs.ac.cn;yongji@njmu.edu.cn;yujianrong@sibs.ac.cn;drhongwenzhou@njmu.edu.cn
  • 作者简介:蒋琬姿,在读博士研究生,专业方向:肥胖、脂代谢和罕见代谢病。E-mail: 1995jwz@sina.com|张丽雯,硕士,馆员,研究方向:生物情报学。E-mail: zhangliwen@sibs.ac.cn; 蒋琬姿和张丽雯并列第一作者。
  • 基金资助:
    国家重点研发计划项目编号(2019YFA0802701);国家重点研发计划项目编号(2018YFA0506904);国家自然科学基金重大研究计划项目编号(91854122);国家自然科学基金专项项目编号资助(L1924031)

Progress on familial hypercholesterolemia

Jiang Wanzi1(), Zhang Liwen2(), He Caihong2,3, Ruan Meihua2, Ji Yong4(), Yu Jianrong2,3(), Zhou Hongwen1()   

  1. 1. Department of Endocrinology, the First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China
    2. Shanghai Information Center for Life Sciences, Shanghai Institute of Nutrition and Health, Chinese Academy of Sciences, Shanghai 200031, China
    3. University of Chinese Academy of Sciences, Beijing 100049, China
    4. Nanjing Medical University, Nanjing 210029, China
  • Received:2021-06-22 Revised:2021-08-12 Online:2021-11-20 Published:2021-09-06
  • Contact: Ji Yong,Yu Jianrong,Zhou Hongwen E-mail:1995jwz@sina.com;zhangliwen@sibs.ac.cn;yongji@njmu.edu.cn;yujianrong@sibs.ac.cn;drhongwenzhou@njmu.edu.cn
  • Supported by:
    Supported by the National Key Research and Development Program of China Nos(2019YFA0802701);Supported by the National Key Research and Development Program of China Nos(2018YFA0506904);the Major Research Plan of the National Natural Science Foundation of China No(91854122);the National Natural Science Foundation of China No(L1924031)

摘要:

家族性高胆固醇血症(familial hypercholesterolemia, FH)是以肌腱黄瘤、低密度脂蛋白胆固醇(low density lipoprotein cholesterol, LDL-C)显著升高和早发冠心病(premature coronary artery disease, PCAD)为特征的一种常染色体显性或隐性遗传病。本文分析了FH的国内外研究现状,总结了目前中国已报道的FH人群相关的基因突变位点及治疗现状,同时统计了FH相关专利及药物研发情况。在论文发表方面,FH致病机制与治疗、未成年FH患者研究等成为研究热点;在专利方面,再生元制药、阿斯利康、默克等大型药企在FH检测、诊断、治疗等方面积极探索;在药物研发方面,已有12种药物在美国、日本、欧洲等国家/地区上市,为FH患者带来希望。

关键词: 家族性高胆固醇血症, 罕见病, FH基因突变位点, 研究现状

Abstract:

Familial hypercholesterolemia (FH) is an autosomal inherited disease characterized by a significant increase in low density lipoprotein cholesterol (LDL-C), tendon xanthoma and premature coronary artery disease (PCAD). In this paper, we analyze the current research status of FH, summarize the reported mutation gene loci in Chinese FH patients and treatment for them, and elaborate the current status of patents and drug researches. The results show that scientific outcomes of FH are increasing with a good developmental trend and the most popular topics of FH study are pathogenesis, treatment of FH, and research on juvenile FH patients. In terms of patents, large pharmaceutical companies, such as Regeneron Pharmaceuticals Inc, AstraZeneca Plc, Merck & Co Inc, are actively engaged in FH detection, diagnosis and treatment. In addition, 12 drugs have been launched in the United States, Japan, Europe and other countries or regions, bringing hope to FH patients.

Key words: familial hypercholesterolemia, rare disease, gene loci, research status