中国科学院机构知识库网格
Chinese Academy of Sciences Institutional Repositories Grid
首页 机构 成果 学者
  
  1. CAS IR Grid
  2. 上海营养与健康研究所
  3. 中国科学院上海生命科学研究院营养科学研究所
Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine

文献类型：期刊论文

作者Liu, Ruihong17; Wang, Yiming17,21,22,24; Chen, Chuming15,16; Gao, Zhi-liang15,16; Peng, Liang15,16; Xia, Xuefeng13,14; Wang, Qiong12; Chen, Minghui12; Newcombe, Paul J.11; Xu, Shuhua10
刊名SCIENTIFIC REPORTS
出版日期2017
卷号7期号:-页码:9214
关键词HOXA11 hypermethylation lung adenocarcinoma adenocarcinoma in situ prognosis
ISSN号2045-2322
DOI10.1038/s41598-017-07012-2
文献子类Article
英文摘要SLC10A1 codes for the sodium-taurocholate cotransporting polypeptide (NTCP), which is a hepatocellular transporter for bile acids (BAs) and the receptor for hepatitis B and D viruses. NTCP is also a target of multiple drugs. We aimed to evaluate the medical consequences of the loss of function mutation p. Ser267Phe in SLC10A1. We identified eight individuals with homozygous p. Ser267Phe mutation in SLC10A1 and followed up for 8-90 months. We compared their total serum BAs and 6 species of BAs with 170 wild-type and 107 heterozygous healthy individuals. We performed in-depth medical examinations and exome sequencing in the homozygous individuals. All homozygous individuals had persistent hypercholanemia (P = 5.8 x 10(-29)). Exome sequencing excluded the involvement of other BA metabolism-associated genes in the hypercholanemia. Although asymptomatic, all individuals had low vitamin D levels. Of six adults that were subjected to bone mineral density analysis, three presented with osteoporosis/osteopenia. Sex hormones and blood lipids were deviated in all subjects. Homozygosity of p. Ser267Phe in SLC10A1 is associated with asymptomatic hypercholanemia. Individuals with homozygous p. Ser267Phe in SLC10A1 are prone to vitamin D deficiency, deviated sex hormones and blood lipids. Surveillance of these parameters may also be needed in patients treated with drugs targeting NTCP.
学科主题Science & Technology - Other Topics
WOS关键词TAUROCHOLATE COTRANSPORTING POLYPEPTIDE ; CHRONIC HEPATITIS-B ; NTCP ; TRANSPORTERS ; DEFICIENCY ; VARIANT ; ENTRY
语种英语
WOS记录号WOS:000408428600002
出版者NATURE PUBLISHING GROUP
版本出版稿
源URL[http://202.127.25.144/handle/331004/953]  
专题中国科学院上海生命科学研究院营养科学研究所
作者单位1.Sun Yat Sen Univ, Hosp Stomatol, Guanghua Sch Stomatol, Guangdong Prov Key Lab Stomatol, Guangzhou, Peoples R China;
2.Guangdong Acad Med Sci, Guangdong Gen Hosp, Dept Dermatol, Guangzhou, Guangdong, Peoples R China;
3.Sun Yat Sen Univ, Affiliated Hosp 3, Dept Cardiol, Guangzhou, Guangdong, Peoples R China;
4.Sun Yat Sen Univ, Affiliated Hosp 3, Dept Dermatol & Venereol, Guangzhou, Guangdong, Peoples R China;
5.Sun Yat Sen Univ, Affiliated Hosp 1, Dept Pediat, Guangzhou, Guangdong, Peoples R China;
6.Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Dept Prenatal Diagnost Ctr, Guangzhou, Guangdong, Peoples R China;
7.Sun Yat Sen Univ, Affiliated Hosp 1, Dept Endocrinol, Guangzhou, Guangdong, Peoples R China;
8.Fudan Univ, Zhongshan Hosp, Fudan Inst Metab Dis, Dept Endocrinol, Shanghai, Peoples R China;
9.Sun Yat Sen Univ, Sun Yat Sen Mem Hosp, Dept Orthopaed Surg, Guangzhou, Guangdong, Peoples R China;
10.Chinese Acad Sci, Shanghai Inst Biol Sci, CAS MPG Partner Inst Computat Biol, Max Planck Independent Res Grp Populat Gen,Key La, Shanghai, Peoples R China;
推荐引用方式
GB/T 7714		 Liu, Ruihong,Wang, Yiming,Chen, Chuming,et al. Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine[J]. SCIENTIFIC REPORTS,2017,7(-):9214.
APA Liu, Ruihong.,Wang, Yiming.,Chen, Chuming.,Gao, Zhi-liang.,Peng, Liang.,...&,.(2017).Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.SCIENTIFIC REPORTS,7(-),9214.
MLA Liu, Ruihong,et al."Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine".SCIENTIFIC REPORTS 7.-(2017):9214.

入库方式： OAI收割

来源：上海营养与健康研究所

浏览0
下载0
收藏0
其他版本

除非特别说明，本系统中所有内容都受版权保护，并保留所有权利。