文献类型：期刊文献

英文题名：A regulatory insertion-deletion polymorphism in the FADS gene cluster influences PUFA and lipid profiles among Chinese adults: a population-based study

作者：Li, Peiqin[1];Zhao, Jing[1];Kothapalli, Kumar S. D.[2,3];Li, Xiang[1];Li, Hui[1];Han, Yuxuan[1];Mi, Shengquan[4];Zhao, Wenhua[5];Li, Qizhai[6];Zhang, Hong[7];Song, Yiqing[8];Brenna, J. Thomas[2,3];Gao, Ying[1]

第一作者：Li, Peiqin

通讯作者：Gao, Y[1]

机构：[1]Univ Chinese Acad Sci, Chinese Acad Sci, Shanghai Inst Biol Sci, Key Lab Nutr & Metab,Inst Nutr Sci, Shanghai, Peoples R China;[2]Cornell Univ, Div Nutr Sci, Ithaca, NY 14853 USA;[3]Univ Texas Austin, Dell Med Sch, Dell Pediat Res Inst, Austin, TX 78712 USA;[4]Beijing Union Univ, Coll Biochem Engn, Beijing, Peoples R China;[5]Chinese Ctr Dis Control & Prevent, Natl Inst Nutr & Hlth, Beijing, Peoples R China;[6]Chinese Acad Sci, Acad Math & Syst Sci, Beijing, Peoples R China;[7]Fudan Univ, Sch Life Sci, Inst Biostat, Shanghai, Peoples R China;[8]Indiana Univ, Richard M Fairbanks Sch Publ Hlth, Dept Epidemiol, Indianapolis, IN 46204 USA

第一机构：Univ Chinese Acad Sci, Chinese Acad Sci, Shanghai Inst Biol Sci, Key Lab Nutr & Metab,Inst Nutr Sci, Shanghai, Peoples R China

通讯机构：[1]corresponding author), Univ Chinese Acad Sci, Chinese Acad Sci, Shanghai Inst Biol Sci, Key Lab Nutr & Metab,Inst Nutr Sci, Shanghai, Peoples R China.

年份：2018

卷号：107

期号：6

起止页码：867-875

外文期刊名：AMERICAN JOURNAL OF CLINICAL NUTRITION

收录：;Scopus(收录号：2-s2.0-85048659982);WOS:【SCI-EXPANDED(收录号:WOS:000435459400005)】；

基金：Supported by the National Key Research and Development Plan (2016YFD0400200 YG) and the 100 Talented Plan of Chinese Academy of Sciences (YG). The funders had no role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript.

语种：英文

外文关键词：dyslipidemia; gene polymorphism; fatty acid desaturases; insertion-deletion; long-chain polyunsaturated fatty acids

摘要：Background: Arachidomc acid (AA) is the major polyunsaturated fatty acid (PUFA) substrate for potent eicosanoid signaling to modulate inflammation and thrombosis and is controlled in part by tissue abundance. Fatty acid desaturase 1 (FADS1) catalyzes synthesis of omega-6 (n-6) AA and n-3 eicosapentaenoic acid (EPA). The rs66698963 polymorphism, a 22-base pair (bp) insertion-deletion 137 bp downstream of a sterol regulatory element in FADS2 intron 1, mediates expression of FADS1 in vitro, as well as exerting positive selection in several human populations. The associations between the polymorphism rs66698963 and plasma PUFAs as well as disease phenotypes are unclear. Objective: This study aimed to evaluate the relation between rs66698963 genotypes and plasma PUFA concentrations and blood lipid profiles. Design: Plasma fatty acids were measured from a single sample obtained at baseline in 1504 healthy Chinese adults aged between 35 and 59 y with the use of gas chromatography. Blood lipids were measured at baseline and a second time at the 18-mo follow-up. The rs66698963 genotype was determined by using agarose gel electrophoresis. Linear regression and logistic regression analyses were performed to assess the association between genotype and plasma PUFAs and blood lipids. Results: A shift from the precursors linoleic acid and a-linolemc acid to produce AA and EPA, respectively, was observed, consistent with FADS 1 activity increasing in the order of genotypes D/D to I/D to I/I. For FI compared with D/D carriers, plasma concentrations of n-6 AA and the ratio of AA to n-3 EPA plus docosahexaenoic acid (DHA) were 57% and 32% higher, respectively. Carriers of the deletion (D) allele of rs66698963 tended to have higher triglycerides (beta= 0.008; SE: 0.009; P = 0.05) and lower HDL cholesterol (beta = -0.008; SE: 0.004; P = 0.02) than carriers of the insertion (I) allele. Conclusions: The rs66698963 genotype is significantly associated with AA concentrations and AA to EPA+DHA ratio, reflecting basal risk of inflammatory and related chronic disease phenotypes, and is correlated with the risk of dyslipidemia. This trial was registered at chictr.org.cn as ChiCTR-EOC-17012759. Am J Clin Nutr 2018;107:867-875.