Association of R230C ABCA1 gene variant with low HDL-C levels and abnormal HDL subclass distribution in Mexican school-aged children

BackgroundThe effect of ABCA1 genetic variation on HDL-C levels has been widely documented, although studies in children are scarce. We recently found a frequent non-synonymous ABCA1 variant (R230C) exclusive to populations with Native American ancestry, associated with low HDL-C levels and other metabolic traits in adults.MethodsWe genotyped R230C variant in 1253 healthy unrelated Mexican school-aged children aged 6–15 years (595 boys and 658 girls) to seek associations with HDL-C levels and other metabolic traits. HDL subclass distribution was analyzed in a subgroup of 81 age, gender and BMI-matched children.ResultsIndividuals carrying the C230 allele showed a significantly lower HDL-C levels (P = 2.9 × 10− 8), and higher TC/HDL-C ratio, BMI, BMI z-score and percent fat mass (P = 0.001, 0.049, 0.032 and 0.039, respectively). HDL size was smaller in R230C heterozygotes as compared to R230R homozygotes (P < 0.05). Moreover, the proportion of HDL2b was lower, while the proportion of HDL3a and HDL3b particles was higher in R230C heterozygous and/or C230C homozygous individuals as compared to R230R homozygotes (P < 0.05).ConclusionsOur data suggest that the R230C ABCA1 gene variant plays an important role in HDL-C level regulation and HDL subclass distribution in healthy Mexican school-aged children.