title: A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemia.
abstract: The apolipoprotein A5 gene (APOA5 ) has been shown to play an important role in determining plasma triglyceride concentrations in humans. We describe here a novel variant, c.553G>T, in the apolipoprotein A5 gene that is associated with hypertriglyceridemia. In contrast to some other polymorphisms, which occur in non-coding regions of the gene, this variant occurs within the coding region and causes the change of amino acid sequence (a substitution of a cysteine for a glycine residue). The minor allele frequencies were 0.042 and 0.27 (P<0.001) for control and hypertriglyceridemic patients, respectively. The serum triglyceride level was significantly different among the genotypic groups (G/G 92.5+/-37.8 mg/dl, G/T 106.6+/-34.8 mg/dl, T/T 183.0 mg/dl, P=0.014) in control subjects. Multiple logistic regression revealed individuals carrying the minor allele had age, gender and BMI (body mass index)-adjusted odds ratio of 11.73 (95% confidence interval of 6.617-20.793; P<0.0001) for developing hypertriglyceridemia in comparison to individuals without that allele. These findings suggest the possible use of c.553G>T polymorphisms in APOA5 as prognostic indicators for hypertriglyceridemia susceptibility in Chinese.
authors.affiliation: School and Graduate Institute of Medical Technology, College of Medicine, and Department of Laboratory Medicine, University Hospital, National Taiwan University, No. 7, Chung-Shan S. Rd, Taipei, 100 Taiwan. jtkao@ha.mc.ntu.edu.tw
authors.forename: Jau-Tsuen
authors.initials: JT
authors.lastname: Kao
authors.forename: Hui-Chin
authors.initials: HC
authors.lastname: Wen
authors.forename: Kuo-Liong
authors.initials: KL
authors.lastname: Chien
authors.forename: Hey-Chi
authors.initials: HC
authors.lastname: Hsu
authors.forename: Shu-Wha
authors.initials: SW
authors.lastname: Lin
mesh_terms: D000367:Age Factors; D019943:Amino Acid Substitution; D001054:Apolipoproteins A / Q000235:genetics*; D044466:Asian People; D015992:Body Mass Index; D002784:Cholesterol / Q000032:analysis; D008076:Cholesterol, HDL / Q000032:analysis; D008078:Cholesterol, LDL / Q000032:analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005998:Glycine / Q000378:metabolism; D006239:Haplotypes; D006801:Humans; D015228:Hypertriglyceridemia / Q000097:blood* / Q000175:diagnosis; D015810:Linkage Disequilibrium; D016015:Logistic Models; D008297:Male; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D012744:Sex Ratio
chemical_list: D001054:Apolipoproteins A; D008076:Cholesterol, HDL; D008078:Cholesterol, LDL; D002784:Cholesterol; D005998:Glycine