[A novel gene in APOA1/C3/A4/A5 cluster: apolipoprotein A5].
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.
Liu
He-Kun
HK
Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, China. liuhekun@mail.fjmu.edu.cn
Zhang
Si-Zhong
SZ
Su
Zhi-Guang
ZG
Ma
Yong-Xin
YX
Wang
Chun-Ting
CT
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*
C437704:APOA5 protein, human; D000072040:Apolipoprotein A-V; D001054:Apolipoproteins A; D001056:Apolipoproteins C; D014280:Triglycerides