APOC3 Promoter Polymorphisms C-482T and T-455C Are Associated with the Metabolic Syndrome

Miller, Michael; Rhyne, Jeffrey; Chen, Hegang; Beach, Valerie; Ericson, Richard; Luthra, Kalpana; Dwivedi, Manjari; Misra, Anoop

doi:10.1016/j.arcmed.2006.10.013

Cited by 76 publications

(67 citation statements)

References 51 publications

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“…The between-study heterogeneity may have arisen for one of the following reasons. First, different diagnostic criteria for MetS: IDF (Csép et al, 2007;Turkovic et al, 2012), American Heart Association/National Heart, Lung, and Blood Institute (AHA/NHLBI) (Yamada et al, 2008;Oguri et al, 2009); and Adult Treatment Panel III guidelines (ATPIII) (Vimaleswaran et al, 2006;Miller et al, 2007). Second, ethnicity differences; the T allele frequencies of controlsubject Croatians, Indians, Romanians, Han Chinese, and Japanese were 0.224, 0.269, 0.281, 0.297, and 0.329, respectively.…”

Section: Discussionmentioning

confidence: 99%

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Association of the FABP2 Ala54Thr polymorphism with type 2 diabetes, obesity, and metabolic syndrome: a population-based case-control study and a systematic meta-analysis

Liu¹,

Wu²,

Han³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. Previous studies have reported associations between the functional FABP2 Ala54Thr (rs1799883) polymorphism and type 2 diabetes mellitus (T2DM), obesity, and metabolic syndrome in different populations with conflicting results. We investigated the association between the FABP2 Ala54Thr polymorphism and T2DM (235 cases, 431 controls), obesity (377 cases, 431 controls), and metabolic syndrome (315 cases, 323 controls) by logistic regression analysis in a Chinese study cohort recruited from Yichang, Hubei Province. We then comprehensively reviewed the association of the FABP2 Ala54Thr polymorphism with T2DM, obesity, and metabolic syndrome via meta-analysis. The strength of association was assessed by odds ratios (ORs) with 95% confidence intervals (CIs). The FABP2 Ala54Thr polymorphism was significantly associated with obesity (AT vs AA:Y. Liu et al. 1156©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (1): 1155-1168 (2015) OR = 2.633, 95%CI = 1.065-6.663, P = 0.036; TT vs AA: OR = 4.160, 95%CI = 1.609-10.757, P = 0.003) and metabolic syndrome (TT vs AA: OR = 2.273, 95%CI = 1.242-4.156, P = 0.008) by logistic regression with adjustment for covariates. However, no significant association was found between T2DM and the FABP2 Ala54Thr polymorphism. We identified 24 studies on T2DM (4517 cases, 5224 controls), 9 studies on obesity (949 cases, 2002 controls), and 6 studies on metabolic syndrome (2194 cases, 3282 controls) by literature search. The metaanalyses revealed significant associations for metabolic syndrome (T allele: OR = 1.179, 95%CI = 1.015-1.362, P = 0.031) and T2DM (T allele: OR = 1.160, 95%CI = 1.08-1.24, P < 0.001), but no association for obesity (T allele: OR = 1.069, 95%CI = 0.925-1.235, P = 0.367).

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Section: Discussionmentioning

confidence: 99%

“…Five studies showed a trend of elevated OR for the allele T (Vimaleswaran et al, 2006;Miller et al, 2007;Csép et al, 2007;Yamada et al, 2008;Oguri et al, 2009). Only one study showed a trend in the opposite direction (Turkovic et al, 2012).…”

Section: A B Cmentioning

confidence: 97%

Association of the FABP2 Ala54Thr polymorphism with type 2 diabetes, obesity, and metabolic syndrome: a population-based case-control study and a systematic meta-analysis

Liu¹,

Wu²,

Han³

et al. 2015

Genet. Mol. Res.

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“…4,9,40 Several groups reported about LPL and proteins involved in LPL activity, as apoCIII and apoAV in type III patients. 13 -16 In accordance with this hypothesis, we replicated in the largest type III cohort thus far, associations for polymorphisms in proteins involved in the lipolysis of lipoproteins: the 3238 G4C polymorphism in the APOC3 gene (in LD Lipolysis genes in type III hyperlipoproteinemia P Henneman et al with APOA5 À1131 T4C polymorphism) and the c.27 G4A mutation in the LPL gene.…”

Section: Genotype and Allele Frequenciesmentioning

confidence: 99%

The expression of type III hyperlipoproteinemia: involvement of lipolysis genes

et al. 2008

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Type III hyperlipoproteinemia (HLP) is mainly found in homozygous apolipoprotein (APO) E2 (R158C) carriers. Genetic factors contributing to the expression of type III HLP were investigated in 113 hyper-and 52 normolipidemic E2/2 subjects, by testing for polymorphisms in APOC3, APOA5, HL (hepatic lipase) and LPL (lipoprotein lipase) genes. In addition, 188 normolipidemic Dutch control panels (NDCP) and 141 hypertriglyceridemic (HTG) patients were genotyped as well. No associations were found for four HL gene polymorphisms and two LPL gene polymorphisms and type III HLP. The frequency of the rare allele of APOC3 3238 G4C and APOA5 À1131 T4C (in linkage disequilibrium) was significantly higher in type III HLP patients when compared with normolipidemic E2/2 subjects, 15.6 vs 6.9% and 15.1 vs 5.8%, respectively, (Po0.05). Furthermore, the frequencies of the APOA5 c.56 G4C polymorphism and LPL c.27 G4A mutation were higher in type III HLP patients, though not significant. Some 58% of the type III HLP patients carried either the APOA5 À1131 T4C, c.56 G4C and/or LPL c.27 G4A mutation as compared to 27% of the normolipidemic APOE2/2 subjects (odds ratio 3.7, 95% confidence interval ¼ 1.8 -7.5, Po0.0001). The HTG patients showed similar allele frequencies of the APOA5, APOC3 and LPL polymorphisms, whereas the NDCP showed similar allele frequencies as the normolipidemic APOE2/2. Patients with the APOC3 3238 G4C/APOA5 À1131 T4C polymorphism showed a more severe hyperlipidemia than patients without this polymorphism. Polymorphisms in lipolysis genes associate with the expression and severity of type III HLP in APOE2/2.

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“…Further, it acts as a constituent of triglyceride-rich lipoprotein particles, inhibiting their LPL-induced hydrolysis, and interferes with receptor-mediated lipoprotein uptake in liver (Yu et al, 2011). However, the -455T>C variant reduces the binding of transcription factors to its promoter elements, resulting in the dyslipidemia and abnormal glucose homeostasis associated with CHD risk (Miller et al, 2007). Interestingly, Yu et al (2011) failed to find an association between the APOC3 -455T>C SNP and increased CHD risk in a Han Chinese population, although promoter variants did have a significant impact on plasma TG and APOC3 levels.…”

Section: Discussionmentioning

confidence: 99%

APOA5 -1131T>C and APOC3 -455T>C polymorphisms are associated with an increased risk of coronary heart disease

2015

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ABSTRACT. The aim of this study was to investigate correlations between apolipoprotein A-V (APOA5) -1131T>C and apolipoprotein C-III (APOC3) -455T>C polymorphisms and coronary heart disease (CHD). PubMed, Ovid, Cochrane Library, Embase, China National Knowledge Infrastructure, and Wanfang databases were searched using combinations of keywords relating to these polymorphisms and CHD. Studies retrieved from database searches were screened using our stringent inclusion and exclusion criteria, and Comprehensive Meta-Analysis Version 2.0 software was used for statistical analyses. In total, 115 studies were initially retrieved and after further selection, 11 were included in the metaanalysis. These 11 articles comprised 4840 patients with CHD in the case group and 4913 healthy participants in the control group. Meta-analysis revealed that APOA5 -1131T>C and APOC3 -455T>C polymorphisms increased CHD risk. In addition, subgroup analysis by ethnicity showed that while the -1131T>C polymorphism elevated the risk of CHD in the Caucasian population under both allelic and dominant models, this increased risk was observed only under a dominant model in the Asian 18219 APOA5 and APOC3 polymorphisms and coronary heart disease ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (4): 18218-18228 (2015) population. The results of our meta-analysis point to a strong link between both APOA5 -1131T>C and APOC3 -455T>C polymorphisms and an increased risk of CHD. Thus, these polymorphisms constitute important predictive indicators of CHD susceptibility.

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APOC3 Promoter Polymorphisms C-482T and T-455C Are Associated with the Metabolic Syndrome

Abstract: These data, therefore, suggest that the APOC3 promoter polymorphisms C-482T and T-455C are associated with the MetS.

Cited by 76 publications

References 51 publications

Association of the FABP2 Ala54Thr polymorphism with type 2 diabetes, obesity, and metabolic syndrome: a population-based case-control study and a systematic meta-analysis

Association of the FABP2 Ala54Thr polymorphism with type 2 diabetes, obesity, and metabolic syndrome: a population-based case-control study and a systematic meta-analysis

The expression of type III hyperlipoproteinemia: involvement of lipolysis genes

APOA5 -1131T>C and APOC3 -455T>C polymorphisms are associated with an increased risk of coronary heart disease

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