Influences of 2482C>T and 3238G>C polymorphisms of the Apolipoprotein C3 gene on prevalence of metabolic syndrome

다국어 초록 (Multilingual Abstract)

Apolipoprotein C3 (ApoC3) plays a regulatory role in triglyceride (TG) metabolism. The higher level of TG can be a cause in pathogenesis of the vascular diseases or metabolic syndrome (MetS). In this study, we examined the associations of ApoC3 polymorphisms (-482C[T rs2854117 and 3238G[C rs5128) with Korean MetS patients. A total of 835 subjects were investigated, including 320 patients with MetS and 515 healthy subjects.
The genotype analysis of the ApoC3 polymorphisms was performed by polymerase chain reaction-restriction fragment length polymorphism methods. Of the two polymorphisms studied, we observed a significant difference in the -482C[T polymorphism between the MetS and control groups. The TT genotype of the -482C[T polymorphism was associated with increased risk for MetS, compared with the controls (OR 1.627, 95 % CI 1.075–2.463, P = 0.021). The association was female-specific. No associations were found for the risk of MetS in the 3238G[C polymorphism. Haplotypes composed of two polymorphisms, however, were associated with MetS susceptibility in only male group. The 3238G[C polymorphism was significantly associated with TG levels (P = 0.013). Our data suggest that the ApoC3 -482C[T polymorphism is associated with increased MetS susceptibility in the Korean population.

참고문헌 (Reference)

1 Vrins CL, "Znf202 affects high density lipoprotein cholesterol levels and promotes hepatosteatosis in hyperlipidemic mice" 8 : e57492-, 2013

2 Shoulders CC, "Variation at the apo AI/ CIII/AIV gene complex is associated with elevated plasma levels of apo CIII" 87 : 239-247, 1991

3 Waterworth DM, "Variable effects of the APOC3-482C T variant on insulin, glucose and triglyceride concentrations in different ethnic groups" 44 : 245-248, 2001

4 Groenendijk M, "The APOAI-CIII-AIV gene cluster" 157 : 1-11, 2001

5 Dallongeville J, "The APOA5 Trp19 allele is associated with metabolic syndrome via its association with plasma triglycerides" 9 : 84-, 2008

6 Maeda N, "Targeted disruption of the apolipoprotein C-III gene in mice results in hypotriglyceridemia and protection from postprandial hypertriglyceridemia" 269 : 23610-23616, 1994

7 Guettier JM, "Polymorphisms in the fatty acid-binding protein 2 and apolipoprotein C-III genes are associated with the metabolic syndrome and dyslipidemia in a South Indian population" 90 : 1705-1711, 2005

8 Akhter Q, "Polymorphisms in the 30 UTR of the human leptin gene and their role in hypertension" 5 : 1058-1062, 2012

9 Deeb S, "Molecular genetics of apolipoproteins and coronary heart disease" 51 : 403-409, 1986

10 Wang CS, "Modulation of lipoprotein lipase activity by apolipoproteins. effect of apolipoprotein C-III" 75 : 384-390, 1985

11 Karathanasis SK, "Linkage of human apolipoproteins A-I and C-III genes" 304 : 371-373, 1983

12 Kee F, "Lack of association between genetic variations of apo A-I-C-III-A-IV gene cluster and myocardial infarction in a sample of European male: ECTIM study" 145 : 187-195, 1999

13 Windler E, "Inhibitory effects of C apolipoproteins from rats and humans on the uptake of triglyceride-rich lipoproteins and their remnants by the perfused rat liver" 26 : 556-565, 1985

14 Brown WV, "Inhibition of lipoprotein lipase by an apoprotein of human very low density lipoprotein" 46 : 375-382, 1972

15 Dorfmeister B, "Indian Asians and Afro-Caribbeans with type 2 diabetes" 1772 : 355-363, 2007

16 Yang Z, "Identification of a novel polymorphism in the 30 UTR of the L-arginine transporter gene SLC7A1: contribution to hypertension and endothelial dysfunction" 115 : 1269-1274, 2007

17 Ito Y, "Hypertriglyceridemia as a result of human apo CIII gene expression in transgenic mice" 249 : 790-793, 1990

18 Ferns GA, "Genetic polymorphisms of apolipoprotein C-III and insulin in survivors of myocardial infarction" 2 : 300-303, 1985

19 Dallongeville J, "Gender related association between genetic variations of APOC-III gene and lipid and lipoprotein variables in northern France" 150 : 149-157, 2000

20 Stanca´kova´ A, "Effect of gene polymorphisms on lipoprotein levels in patients with dyslipidemia of metabolic syndrome" 55 : 483-490, 2006

21 Clemente-Postigo M, "Effect of apolipoprotein C3 and apolipoprotein A1 polymorphisms on postprandial response to a fat overload in metabolic syndrome patients" 43 : 1300-1304, 2010

22 Hosseini-Esfahani F, "Dietary patterns interact with APOA1/APOC3 polymorphisms to alter the risk of the metabolic syndrome: the tehran lipid and glucose study" 113 : 644-653, 2015

23 Grundy SM, "Diagnosis and management of the metabolic syndrome an American Heart Association/National Heart, Lung, and Blood Institute Scientific Statement" 112 : 2735-2752, 2005

24 Rees A, "DNA polymorphisms in the apolipoprotein C-III and insulin genes and atherosclerosis" 58 : 269-275, 1985

25 Shcherbakova MIu, "Correlation of metabolic syndrome clinical signs and genetic determinants at children with obese" 7 : 6-11, 2010

26 Hegele RA, "Common genomic variation in the APOC3 promoter associated with variation in plasma lipoproteins" 17 : 2753-2758, 1997

27 Hegele RA, "Common genomic variants associated with variation in plasma lipoproteins in young aboriginal Canadians" 17 : 1060-1066, 1997

28 Niculescu LS, "Association of APOA5 and APOC3 gene polymorphisms with plasma apolipoprotein A5 level in patients with metabolic syndrome" 391 : 587-591, 2010

29 Karathanasis SK, "Apolipoprotein multigene family: tandem organization of human apolipoprotein AI, CIII and AIV genes" 82 : 6374-6378, 1985

30 Hosseini-Esfahani F, "Alterations in food group intakes and subsequent weight changes in adults: tehran lipid and glucose study" 12 : e17236-, 2014

31 Miller M, "APOC3 promoter polymorphisms C-482T and T-455C are associated with the metabolic syndrome" 38 : 444-451, 2007

32 Prasad MK, "A polymorphic 30 UTR element in ATP1B1 regulates alternative polyadenylation and is associated with blood pressure" 8 : e76290-, 2013