title: Association of R230C ABCA1 gene variant with low HDL-C levels and abnormal HDL subclass distribution in Mexican school-aged children.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  Individuals carrying the C230 allele showed a significantly lower HDL-C levels (P=2.9x10(-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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Unit of Molecular Biology and Genomic Medicine, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Universidad Nacional Autónoma de México, Mexico City, Mexico.
authors.forename: Teresa
authors.initials: T
authors.lastname: Flores-Dorantes
authors.forename: Olimpia
authors.initials: O
authors.lastname: Arellano-Campos
authors.forename: Rosalinda
authors.initials: R
authors.lastname: Posadas-Sánchez
authors.forename: Teresa
authors.initials: T
authors.lastname: Villarreal-Molina
authors.forename: Aida
authors.initials: A
authors.lastname: Medina-Urrutia
authors.forename: Sandra
authors.initials: S
authors.lastname: Romero-Hidalgo
authors.forename: Petra
authors.initials: P
authors.lastname: Yescas-Gómez
authors.forename: Oscar
authors.initials: O
authors.lastname: Pérez-Méndez
authors.forename: Esteban
authors.initials: E
authors.lastname: Jorge-Galarza
authors.forename: Teresa
authors.initials: T
authors.lastname: Tusié-Luna
authors.forename: Marisela
authors.initials: M
authors.lastname: Villalobos-Comparán
authors.forename: Leonor
authors.initials: L
authors.lastname: Jacobo-Albavera
authors.forename: Hugo
authors.initials: H
authors.lastname: Villamil-Ramírez
authors.forename: Blanca E
authors.initials: BE
authors.lastname: López-Contreras
authors.forename: Carlos A
authors.initials: CA
authors.lastname: Aguilar-Salinas
authors.forename: Carlos
authors.initials: C
authors.lastname: Posadas-Romero
authors.forename: Samuel
authors.initials: S
authors.lastname: Canizales-Quinteros
mesh_terms: D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000293:Adolescent; D002648:Child; D008076:Cholesterol, HDL / Q000096:biosynthesis*; D005260:Female; D006801:Humans; D008297:Male; D008800:Mexico
chemical_list: C577836:ABCA1 protein, human; D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters; D008076:Cholesterol, HDL