Association of R230C ABCA1 gene variant with low HDL-C levels and abnormal HDL subclass distribution in Mexican school-aged children.
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.
Flores-Dorantes
Teresa
T
Unit of Molecular Biology and Genomic Medicine, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Universidad Nacional Autónoma de México, Mexico City, Mexico.
Arellano-Campos
Olimpia
O
Posadas-Sánchez
Rosalinda
R
Villarreal-Molina
Teresa
T
Medina-Urrutia
Aida
A
Romero-Hidalgo
Sandra
S
Yescas-Gómez
Petra
P
Pérez-Méndez
Oscar
O
Jorge-Galarza
Esteban
E
Tusié-Luna
Teresa
T
Villalobos-Comparán
Marisela
M
Jacobo-Albavera
Leonor
L
Villamil-Ramírez
Hugo
H
López-Contreras
Blanca E
BE
Aguilar-Salinas
Carlos A
CA
Posadas-Romero
Carlos
C
Canizales-Quinteros
Samuel
S
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
C577836:ABCA1 protein, human; D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters; D008076:Cholesterol, HDL