Συχνοί πολυμορφισμοί του γονιδίου ABCA1 σε άτομα νεαρής ηλικίας που σχετίζονται με τα επίπεδα της υψηλής πυκνότητας λιποπρωτεΐνης (HDL)

Abstract

Serum high-density lipoprotein (HDL) cholesterol in inversely correlated withrisk of coronary heart disease (CHD). The antiatherogenic function of HDL-cattributed to its pivotal role in reverse cholesterol transport, mediated by ATPbinding cassette transporter A1 (ABCA1). A number of commonpolymorphisms of the ABCA1 gene have been associated with HDL-Cconcentration and CHD risk.Objective: We evaluated the influence of ATP-binding cassette transporter A1(ABCA1) gene polymorphisms such as rs2230806 (R219K), rs2230808(R1587K) and rs4149313 (I883M) on the human lipid profile.Methods: The present study included 447 unrelated young women and menself-reported as being healthy. All subjects were genotyped and the ABCA1polymorphisms (R219K, R1587K and I883M) were recorded.Results: No statistical differences were observed in the distribution of R219K,R1587K and I883M polymorphisms according to sex (p>0.05 in all cases).There was no correlation detected between HDL levels and thepolymorphisms examined in the total study population. However, a statisticallysignificant difference was observed between concentration of Low DensityLipoprotein, LDL and R1587K genotype with carriers of the KK genotypehaving lower LDL levels. This correlation was not confirmed in the femalepopulation, where the RR genotype was associated with lower LDL levels.Conclusion: These findings suggest that R1587K polymorphism of ABCA1gene may influence the lipid profile. However, this needs to be confirmed bylarger studies.