Abstract 15752: Association of Apolipoprotein A5 Single Nucleotide Polymorphism With Hypertriglyceridemia in Taiwan
Background: The apolipoprotein A5 gene (APOA5) has been discovered to play an important role in triglyceride (TG) metabolism. Several single nucleotide polymorphisms (SNPs) of APOA5 associated with increased TG concentrations have been confirmed in various ethnic groups. The association of SNPs with hypertriglyceridemia was examined in Taiwan population.
Methods: Genotyping of the APOA5 –1131T>C (rs662799), –3A>G (rs651821), 457G>A (rs3135507) and 553G>T, (rs2075291) was performed in seventy Taiwanese that collected from six hypertriglyceridemic candidate families. Genome-wide SNP studies including two hypertriglyceridemia patients and one normal control of one selected family were examined for Exome sequencing. Another 120 unrelated subjects were tested for APOA5 553G>T genotyping by PCR sequencing.
Results: After Exome sequencing to survey SNPs, 13 candidate genes were selected from the difference between hypertriglyceridemia patients and normal group. The haplotypes comprised four SNPs, rs662799, rs651821, rs3135507 and rs2075291, were significantly associated with high triglyceride level. In particular, haplotype C-G-G-T showed strongly association in triglyceride carrier and presented as an autosomal recessive pattern. The frequencies of TT genotype of rs2075291 were 23.1% in hypertriglyceridemic group but no TT genotype was found in control group. Therefore, TT genotype of rs2075291 was statistically significantly associated with high triglycerides (adjusted odds ratio: 78.27, 95% confidence interval [CI]: 3.9[[Unable to Display Character: –]]1555.1, P = 0.0042), in comparison to the individuals without the TT allele.
Conclusions: These findings suggest the TT genotype of c.553G>T polymorphism of APOA5 acts an important indicator for hypertriglyceridemic patients in Taiwan and the frequency of TT genotype differs from previous found in Taiwanese.
- © 2013 by American Heart Association, Inc.