JAU-TSUEN KAOWen H.-C.KUO-LIONG CHIENHsu H.-C.SHU-WHA LIN2020-06-222020-06-2220030964-6906https://scholars.lib.ntu.edu.tw/handle/123456789/504052The 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.[SDGs]SDG3amino acid; apolipoprotein A; cysteine; glycine; triacylglycerol; adult; age; allele; amino acid sequence; amino acid substitution; article; body mass; Chinese; controlled study; diagnostic value; disease predisposition; female; gender; gene frequency; gene linkage disequilibrium; genetic variability; genotype; haplotype; human; hypertriglyceridemia; logistic regression analysis; major clinical study; male; priority journal; prognosis; promoter region; protein function; protein polymorphism; risk assessment; triacylglycerol blood level; Age Factors; Amino Acid Substitution; Apolipoproteins A; Asian Continental Ancestry Group; Body Mass Index; Cholesterol; Cholesterol, HDL; Cholesterol, LDL; Female; Gene Frequency; Genetic Predisposition to Disease; Glycine; Haplotypes; Humans; Hypertriglyceridemia; Linkage Disequilibrium; Logistic Models; Male; Odds Ratio; Polymorphism, Genetic; Sex Ratio; Variation (Genetics)journal article10.1093/hmg/ddg255129154502-s2.0-0141841622