title: [A novel gene in APOA1/C3/A4/A5 cluster: apolipoprotein A5].
abstract: Using methods of comparative and functional genomics, a new gene coding for apolipoprotein A5 was identified in the vicinity of APOA1/C3/A4 cluster on human chromosome 11q23 by Pennaccio team and Vliet team. The open reading frame of human APOA5 encoded a 366-amino acid protein with high sequence homology to mouse Apoa5 and human APOA4. Mice expressing a human APOA5 transgene showed a decrease in plasma triglyceride concentrations to one-third of those in control mice; conversely, knockout mice lacking Apoa5 had four times as much plasma triglycerides as controls. Single nucleotide polymorphisms (SNPs) in APOA5 (S19W, -1131T>C) and APOA5 haplotype (APOA5*3) were independently associated with high plasma triglyceride levels. These findings indicate that APOA5 is an important determinant of plasma triglyceride levels, a major risk factor for coronary artery disease.
authors.affiliation: Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, China. liuhekun@mail.fjmu.edu.cn
authors.forename: He-Kun
authors.initials: HK
authors.lastname: Liu
authors.forename: Si-Zhong
authors.initials: SZ
authors.lastname: Zhang
authors.forename: Zhi-Guang
authors.initials: ZG
authors.lastname: Su
authors.forename: Yong-Xin
authors.initials: YX
authors.lastname: Ma
authors.forename: Chun-Ting
authors.initials: CT
authors.lastname: Wang
mesh_terms: D000818:Animals; D000072040:Apolipoprotein A-V; D001054:Apolipoproteins A / Q000235:genetics*; D001056:Apolipoproteins C / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D006949:Hyperlipidemias / Q000097:blood / Q000235:genetics*; D005810:Multigene Family; D020641:Polymorphism, Single Nucleotide; D014280:Triglycerides / Q000097:blood*
chemical_list: C437704:APOA5 protein, human; D000072040:Apolipoprotein A-V; D001054:Apolipoproteins A; D001056:Apolipoproteins C; D014280:Triglycerides