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

• Published in: Clinica chimica acta 2010-09, Vol.411 (17), p.1214-1217
• Main Authors: Flores-Dorantes, Teresa, Arellano-Campos, Olimpia, Posadas-Sánchez, Rosalinda, Villarreal-Molina, Teresa, Medina-Urrutia, Aida, Romero-Hidalgo, Sandra, Yescas-Gómez, Petra, Pérez-Méndez, Oscar, Jorge-Galarza, Esteban, Tusié-Luna, Teresa, Villalobos-Comparán, Marisela, Jacobo-Albavera, Leonor, Villamil-Ramírez, Hugo, López-Contreras, Blanca E., Aguilar-Salinas, Carlos A., Posadas-Romero, Carlos, Canizales-Quinteros, Samuel
• Format: Article
• Language: English
• Subjects: ABCA1 R230C variant; Adolescent; ATP Binding Cassette Transporter 1; ATP-Binding Cassette Transporters - genetics; Child; Cholesterol, HDL - biosynthesis; Female; HDL subclasses; HDL-cholesterol; Humans; Male; Mexican children; Mexico
• ISSN: 0009-8981; 1873-3492
• DOI: 10.1016/j.cca.2010.04.025

The 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. We 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. Individuals 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 HDL 2b was lower, while the proportion of HDL 3a and HDL 3b particles was higher in R230C heterozygous and/or C230C homozygous individuals as compared to R230R homozygotes ( P < 0.05). Our 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.