The influence of APOAV polymorphisms (T‐1131>C and S19>W) on plasma triglyceride levels and risk of myocardial infarction

Abstract

The importance of an APOAV gene for plasma triglyceride level determination has been shown on transgenic and knockout mice. We examined whether APOAV variants are associated with plasma triglyceride levels and risk of myocardial infarction (MI). We have evaluated the influence of APOAV polymorphisms (T-1131>C and S19>W) on plasma triglycerides in 1191 males and 1368 females representatively selected from the Czech population. Triglycerides have been analysed in 1997 and 2001. Subsequently, we have analysed the genotype frequencies of the APOAV polymorphism in 435 patients with MI. T-1131>C variation in the APOAV gene affects the plasma triglyceride showing a higher level in C-1131 carriers than in T/T-1131 homozygotes. This association has been observed both in males and females (p < 0.001). Similarly, plasma triglycerides were also significantly influenced by the S19>W APOAV genotypes. In both males and females, the W19 carriers have triglycerides significantly (p < 0.001) higher compared to the S19 homozygotes. In a group of MI patients, the frequency of the rare homozygotes for at least one APOAV polymorphism (C/C-1131 and/or W/W19) was significantly higher than that in the population sample (7.4 vs 2.0%, p < 0.00001). We conclude that variations in the APOAV gene not only play a role in genetic determination of triglyceride levels but also could influence risk of MI.

Short Communication Association of APOA1 and APOA5 polymorphisms and haplotypes with lipid parameters in a Brazilian elderly cohort

“…However, associations of the T allele of the XmnI polymorphism with increased TG, total cholesterol, and LDL-C levels have been described (Dallinga-Thie et al, 1996;Hong et al, 1997). Regarding the S19W polymorphism, the G allele has been associated with higher plasma TG in several populations (Hubacek et al, 2004;Martinelli et al, 2007), as well as in another population from the South Brazil region (de Andrade et al, 2011). These controversial findings may be due to the heterogeneity of the study populations and to their different ethnic backgrounds.…”

“…APOA5, another apolipoprotein, has been reported to be an important regulator of TG levels (Hubacek et al, 2004). Polymorphisms in APOA1 and APOA5 genes have been associated with lipid alterations and CVD (Hubacek et al, 2004;de Andrade et al, 2011).…”

Apolipoprotein A5 polymorphisms and risk of coronary artery disease: A meta-analysis

“…We also performed a cumulative meta-analysis to identify the influence of the initial study on the subsequent publications. The influential role of the study of Bi et al (11) was obvious in the cumulative random effects meta-analysis under the recessive genetic model, and the study of Hubacek et al (27) was obvious under the dominant genetic model (Table 3). …”

“…The -1131T>C polymorphism is located in the promoter polymorphism and risk of CAD were selected in this meta-analysis with 5,050 cases and 7,272 controls (11,12,14,16,17,(26)(27)(28)(29)(30)(31)(32)(33). For the S19W APOA5 gene polymorphisms, 5 studies were included in the metaanalysis with 2,196 cases and 3,933 controls (14,16,17,27,34). Characteristics of included studies are summarized in Table 1 and Table 2.…”

Different effects of apolipoprotein A5 SNPs and haplotypes on triglyceride concentration in three ethnic origins

“…5,42 A previous study in Caucasians reports that the minor allele frequency of SNP rs662799 was significantly higher among coronary artery disease patients than among controls (OR¼1.98, 95% CI: 1.14-3.48). 43 Another study 44 found that homozygotes of the minor allele frequency of at least one of the SNPs rs662799 and/or rs3135506 were more prone to MI (Po0.001), but they failed to detect significantly different distributions of the ApoA5 genotype between MI patients and controls. In contrast, two prospective studies, which were branch investigations of the NPHS II study 40 and LOCAT study, 34 did not observe any positive association between SNP rs662799 and coronary artery disease.…”