title: Association of APOA5 -1131T>C and S19W gene polymorphisms with both mild hypertriglyceridemia and hyperchylomicronemia in type 2 diabetic patients.
abstract: BACKGROUND
  Two minor apolipoprotein A5 (APOA5) gene haplotypes, represented by -1131T>C and S19W polymorphisms, are strong determinants of plasma triglyceride (TG) concentration variability across human populations. Hypertriglyceridemia is frequent in type 2 diabetes (T2D) and hyperchylomicronemia is not uncommon.
  
  
  METHODS
  We investigated the association of -1131T>C and S19W polymorphisms with diabetic dyslipidemia in 400 Caucasian T2D patients divided in 2 groups: group N with 130 normotriglyceridemics (TG<90th percentile) and group M with 270 moderately hypertriglyceridemics. A third group of 51 diabetic patients (group H) with history of hyperchylomicronemia (TG>15 mM) was also studied.
  
  
  RESULTS
  The -1131C allele was more frequent in both mild and severe hypertriglyceridemia (20.6% vs 9.8% vs 5.0%, group H vs M vs N, p<0.001). The 19W allele was more frequent only in patients with hyperchylomicronemia (14.0% vs 6.5% vs 6.1%, group H vs M vs N, p=0.001). In group N+M, the -1131C allele was associated with higher TG (+13%, p=0.034) and lower HDLc (-10%, p=0.004). The 19W allele was only associated with lower HDLc (-9%, p=0.022).
  
  
  CONCLUSIONS
  These results suggest that in T2D APOA5 polymorphisms contribute to modulate dyslipidemia. Both -1131T>C and S19W polymorphisms are associated with hyperchylomicronemia and only -1131T>C polymorphism with mild hypertriglyceridemia.
authors.affiliation: INSERM U870, Université de Lyon, Lyon, France. sybil.charriere@chu-lyon.fr
authors.forename: Sybil
authors.initials: S
authors.lastname: Charriere
authors.forename: Sophie
authors.initials: S
authors.lastname: Bernard
authors.forename: Mahdi
authors.initials: M
authors.lastname: Aqallal
authors.forename: Micheline
authors.initials: M
authors.lastname: Merlin
authors.forename: Stéphane
authors.initials: S
authors.lastname: Billon
authors.forename: Laurence
authors.initials: L
authors.lastname: Perrot
authors.forename: Elodie
authors.initials: E
authors.lastname: Le Coquil
authors.forename: Agnès
authors.initials: A
authors.lastname: Sassolas
authors.forename: Philippe
authors.initials: P
authors.lastname: Moulin
authors.forename: Christophe
authors.initials: C
authors.lastname: Marcais
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D000072040:Apolipoprotein A-V; D001054:Apolipoproteins A / Q000235:genetics / Q000378:metabolism*; D015331:Cohort Studies; D003924:Diabetes Mellitus, Type 2 / Q000097:blood* / Q000150:complications / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008072:Hyperlipoproteinemia Type I / Q000097:blood* / Q000150:complications / Q000235:genetics*; D015228:Hypertriglyceridemia / Q000097:blood / Q000235:genetics*; D050356:Lipid Metabolism; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: C437704:APOA5 protein, human; D000072040:Apolipoprotein A-V; D001054:Apolipoproteins A