SLCO2A1基因相关性疾病的研究进展  

Research progress in SLCO2A1 gene related diseases

作　　者：王强[1] 丁文蕴 李玥[1] 吴东[1] 夏维波[3] Wang Qiang;Ding Wenyun;Li Yue;Wu Dong;Xia Weibo(Department of Gastroenterology,Peking Union Medical College Hospital,Peking Union Medical College,Chinese Academy of Medical Sciences,Beijing 100730,China;Department of Plastic and Aesthetic Surgery,Peking Union Medical College Hospital,Peking Union Medical College,Chinese Academy of Medical Sciences,Beijing 100730,China;Department of Endocrinology,Peking Union Medical College Hospital,Peking Union Medical College,Chinese Academy of Medical Sciences,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医学院北京协和医院消化内科,100730 [2]中国医学科学院北京协和医学院北京协和医院整形美容外科,100730 [3]中国医学科学院北京协和医学院北京协和医院内分泌科,100730

出　　处：《中华炎性肠病杂志（中英文）》2021年第2期135-139,共5页Chinese Journal of Inflammatory Bowel Diseases

摘　　要：溶质载体有机阴离子转运蛋白家族成员2A1(SLCO2A1)基因可介导编码有机阴离子转运多肽2A1(OATP2A1),而OATP2A1在人体组织器官内广泛表达,对前列腺素的代谢发挥重要调节作用,参与多种病理生理过程。SLCO2A1基因异常可通过OATP2A1影响前列腺素的代谢,从而导致疾病。目前已知的SLCO2A1基因相关性疾病主要包括原发性肥厚性骨关节病(PHO)和SLCO2A1基因相关慢性肠病(CEAS)两种,临床上对于此类疾病的关注日趋增多。本文结合SLCO2A1基因的功能特点,介绍近年来SLCO2A1基因相关性疾病的致病机制、临床特征及治疗进展等。Organic anion transporting polypeptide 2A1(SLCO2A1)gene encodes the organic anion transporting polypeptide 2A1(OATP2A1).OATP2A1 is widely expressed in human tissues and organs,plays an important regulatory role in prostaglandin metabolism and participates in various pathophysiological processes.The abnormality of SLCO2A1 gene can affect the prostaglandin metabolism by OATP2A1,leading to the disease.At present,the known SLCO2A1 gene related diseases include primary hypertrophic osteoarthropathy(PHO)and chronic enteropathy associated with SLCO2A1 gene(CEAS).More attention has been paid to these diseases in recent years.Based on the functional characteristics of SLCO2A1 gene,the article introduces the pathogenesis,clinical characteristics and treatment progress of SLCO2A1 gene related diseases.

关 键 词：SLCO2A1基因相关慢性肠病 原发性肥厚性骨关节病 基因 SLCO2A1 有机阴离子转运多肽2A1 前列腺素E2 

分 类 号：R394[医药卫生—医学遗传学]