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Abstract: P372 AN INTERPLAY BETWEEN A COMMON ABCA1 POLYMORPHISM AND APOE ISOFORMS IN HDL LEVELS DETERMINATION
Poster - GENETICS - Genetics of HDL Abstract: P372 Citation: Atherosclerosis Supplement 2009, Vol. 10, Issue 2
AN INTERPLAY BETWEEN A COMMON ABCA1 POLYMORPHISM AND APOE ISOFORMS IN HDL LEVELS DETERMINATION K Hirschfeldova1, M Sedova2, M Vrablik3, H Svobodova3, J Zvarova2, J Hubacek4, R Ceska3 1
Inst Biol and Med Genet, 1st FM and GTH in Prague, CU, Prague; 2Dep Med Inform, ICS CAS, Prague; 33rd Med Dep, 1st FM and GTH in Prague, CU, Prague; 4Cardio Res Cen, IKEM, Prague Low plasma HDL concentration at a population level is a polygenic trait and high contribution of genetic component was assigned. Combined effect of common sequence variants either in the coding or regulatory regions of candidate genes are considered. We have genotyped a common polymorphic site 1051G>A (R219K) from the coding part of the adenosine triphosphate binding cassette transporter A-1 gene and determined basic apoE isoforms. The study population consisted of 340 males and 403 females recruited as a randomly selected sample of unrelated individuals from the DNA pool comprising out-patients from the lipid clinic. The study population was characterized by high mean TG levels (2.57 ±2.77). The association of ABCA1 genotypes and apoE isoforms with HDL levels was evaluated using linear regression models (simple model and a more complex model with interaction), in which the expected HDL level was assumed to be a linear function of genotype/isoforme and other effects. The simple model revealed no association between HDL plasma concentration and both ABCA1 polymorphism and apoE isoforms. However, the model with interaction detected a possible interplay between ABCA1 1051G>A variant and apoE isoforms on HDL concentration determination. Since individuals with G allele in ABCA1 and apoE isoforme 2 had significantly higher HDL level than the others (p= 0.017). Funding: Study was supported by Grant No. NR/ 9411-3/2007 IGA MH Czech Rep, and by the Sci Pro No. MSM0021620807 MEYS Czech Rep.
AN INTERPLAY BETWEEN A COMMON ABCA1 POLYMORPHISM AND APOE ISOFORMS IN HDL LEVELS DETERMINATION K Hirschfeldova1, M Sedova2, M Vrablik3, H Svobodova3, J Zvarova2, J Hubacek4, R Ceska3 1
Inst Biol and Med Genet, 1st FM and GTH in Prague, CU, Prague; 2Dep Med Inform, ICS CAS, Prague; 33rd Med Dep, 1st FM and GTH in Prague, CU, Prague; 4Cardio Res Cen, IKEM, Prague Low plasma HDL concentration at a population level is a polygenic trait and high contribution of genetic component was assigned. Combined effect of common sequence variants either in the coding or regulatory regions of candidate genes are considered. We have genotyped a common polymorphic site 1051G>A (R219K) from the coding part of the adenosine triphosphate binding cassette transporter A-1 gene and determined basic apoE isoforms. The study population consisted of 340 males and 403 females recruited as a randomly selected sample of unrelated individuals from the DNA pool comprising out-patients from the lipid clinic. The study population was characterized by high mean TG levels (2.57 ±2.77). The association of ABCA1 genotypes and apoE isoforms with HDL levels was evaluated using linear regression models (simple model and a more complex model with interaction), in which the expected HDL level was assumed to be a linear function of genotype/isoforme and other effects. The simple model revealed no association between HDL plasma concentration and both ABCA1 polymorphism and apoE isoforms. However, the model with interaction detected a possible interplay between ABCA1 1051G>A variant and apoE isoforms on HDL concentration determination. Since individuals with G allele in ABCA1 and apoE isoforme 2 had significantly higher HDL level than the others (p= 0.017). Funding: Study was supported by Grant No. NR/ 9411-3/2007 IGA MH Czech Rep, and by the Sci Pro No. MSM0021620807 MEYS Czech Rep.