A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemia

被引:153
作者
Kao, JT
Wen, HC
Chien, KL
Hsu, HC
Lin, SW
机构
[1] Natl Taiwan Univ, Sch & Grad Inst Med Technol, Coll Med, Taipei 100, Taiwan
[2] Natl Taiwan Univ Hosp, Dept Lab Med, Taipei, Taiwan
[3] Natl Taiwan Univ, Grad Inst Prevent Med, Coll Publ Sch, Taipei 10764, Taiwan
[4] Natl Taiwan Univ, Coll Med, Dept Pathol, Taipei, Taiwan
关键词
D O I
10.1093/hmg/ddg255
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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.
引用
收藏
页码:2533 / 2539
页数:7
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