Paraoxonase genotype and carotid intima-media thickness in children with familial hypercholesterolemia.

Background: Paraoxonase (PON) 1 is a high-density lipoprotein-associated enzyme that may protect against cardiovascular disease.

Method: We have studied the contribution of PON-1 and PON-2 single nucleotide polymorphisms (SNP; L55M, Q192R and T-107C, S311C) to the intima-media thickness of the common carotid artery in a population of children with classic familial hypercholesterolaemia.

Results: The L-variant of the L55M SNP was associated with increased common carotid artery intima-media thickness when compared with the M-variant (P value for trend 0.03). No significant relationship was observed between the other SNP and common carotid artery intima-media thickness.

Conclusions: Our findings suggest that variation at the PON-1 locus contributes to early atherosclerosis in children with familial hypercholesterolaemia.