Impact of Genetic Polymorphism on LDL-C Response to Plant Stanol Ester Intake

The high blood cholesterol level could be prevented by plant stanol ester (Staest) consumption. In addition, the genetic polymorphism of cholesterol transporters might be related with lipid profile and subsequently response to Staest intake.

To investigate the effect of single nucleotide polymorphism in ATP-binding cassette hetero-dimeric G5/G8 (ABCG5/G8) and Niemann-Pick C1 Like1 protein (NPC1L1) gene on LDL-C response subsequent to plant Staest intake in Thai Subjects.

The blood samples were collected from 113 subjects for genotyping. The single nucleotide polymorphisms (SNPs) of ABCG5/G8 positions; rs6720173 (Q604E), rs4148211 (C54Y), rs4148217 (T400K), rs3806471 (5’UTR-145), and NPC1L1; positon; rs2072183 (L272L) were analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method.

After Staest intake, the subjects with QE genotype (Q604E of ABCG5) showed a 4-fold significant decrease in LDL-C level (14.17±10.67%) compared to subjects with QQ genotype (3.50±10.65%) (p = 0.003). Moreover, the pronounced effect of Q604E polymorphism was observed in subjects after intake of Staest with meal. However, no significant difference in these markers was observed in subjects carrying other mutations.

Thus, it could be suggested that non-synonymous gene polymorphism resulted substitution of uncharged glutamine (Q) with negatively charged glutamic acid (E) at position 604, thereby possibly alter the function of transporter proteins. Besides, the genetic variation in these genes might be related with serum lipid profiles. Moreover, Q604E mutation of ABCG5 in each individual with meal effect could lead to particular response towards LDL-C level after Staest intervention.