DNA VARIATION IN THE GENES OF THE NA,K-ADENOSINE TRIPHOSPHATASE AND ITS RELATION WITH RESTING METABOLIC-RATE, RESPIRATORY QUOTIENT, AND BODY-FAT

The aim of this study was to investigate in 261 subjects from 58 famil ies the association between DNA variation at the genes coding for the Na,K-ATPase peptides and resting metabolic rate (RMR), respiratory quo tient (RQ), and percent body fat (%FAT). Five restriction fragment len gth polymorphisms (RFLP) at three Na,K-ATPase genes were determined: o ne at the alpha 1 locus (BgIII), two at the alpha 2 locus (alpha 2 exo n 1 and alpha 2 exon 21-22 with BgIII), and two at the beta locus (bet a MspI and beta PvuII). Haplotypes were determined from the two variab le sites of the alpha 2 gene (alpha 2 haplotypes) and the beta gene (b eta haplotypes). There was a strong trend for %FAT to be related to th e RFLP generated by BgIII at the alpha 2 exons 21-22 in males (P = 0.0 6) and females (P = 0.05). RQ was (a) associated with the BgIII RFLP a t the alpha 2 exon 1 (P = 0.02) and with the alpha 2 8.0 kb/4.3 kb hap lotype (P = 0.04) and (b) linked with the beta gene MspI marker (P = 0 .04) and with the beta 5.3 kb/5.1 kb haplotype (P = 0.008) based on si b-pair analysis. The present study suggests that the genes encoding Na ,K-ATPase may be associated or linked with RQ and perhaps with %FAT bu t not with RMR.