Interaction between APOA5 -1131T>C and APOE polymorphisms and their association with severe hypertriglyceridemia.
BACKGROUND
Apolipoprotein A5 gene (APOA5) has been shown to modulate plasma triglyceride concentrations. The apolipoprotein E gene (APOE) has been implicated in cholesterol and triglyceride homeostasis in humans and plays an important role in atherogenesis. The aim of this study was to determine the genotypic distribution of the APOA5 -1131T>C and APOE polymorphisms and to identify the combined association of these variants between patients with and without severe hypertriglyceridemia (HTG).


METHODS
We genotyped 96 individuals who had reached plasma TG concentrations of more than 10 mmol/L and 225 ischemic patients without severe HTG.


RESULTS
Minor allele carriers were significantly more frequent in HTG group for all three polymorphisms (APOA5, APOE2 and APOE4). Adjusted individual risks for severe HTG were: APOA5 -1131C, OR=4.1 (95%CI:2.02-8.24); APOE2, OR=1.6 (95%CI:0.73-3.58); APOE4, OR=3.0 (95%CI:1.68-5.86). Adjusted risks for APOA5-APOE combinations were: APOA5 -1131C/APOE2, OR=45.2 (95%CI:4.92-415.5); APOA5 -1131C/APOE4, OR=6.4 (95%CI:2.28-18.01).


CONCLUSIONS
These data provide evidence that APOA5 -1131T>C polymorphism is associated with risk for severe HTG. Furthermore, this effect is strongly increased when -1131C variant is combined with APOE variants.
Sousa
Marinez Oliveira
MO
Bellvitge University Hospital, L'Hospitalet de Llobregat, Barcelona, Spain. marinez@farmacia.ufmg.br
Alía
Pedro
P
Pintó
Xavier
X
Corbella
Emili
E
Navarro
Miguel-Angel
MA
D000328:Adult; D000368:Aged; D000483:Alleles; D016633:Apolipoprotein A-II / Q000235:genetics / Q000378:metabolism; D000072040:Apolipoprotein A-V; D053327:Apolipoprotein E4 / Q000235:genetics / Q000378:metabolism; D001054:Apolipoproteins A / Q000235:genetics* / Q000378:metabolism; D001057:Apolipoproteins E / Q000235:genetics* / Q000378:metabolism; D005260:Female; D005838:Genotype; D006801:Humans; D015228:Hypertriglyceridemia / Q000097:blood / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D017354:Point Mutation; D011110:Polymorphism, Genetic; D012307:Risk Factors; D012720:Severity of Illness Index
C115794:APOA2 protein, human; C437704:APOA5 protein, human; D016633:Apolipoprotein A-II; D000072040:Apolipoprotein A-V; D053327:Apolipoprotein E4; D001054:Apolipoproteins A; D001057:Apolipoproteins E