DNA variation in the genes of the Na,K-adenosine triphosphatase and its relation with resting metabolic rate, respiratory quotient, and body fat

Abstract

The aim of this study was to investigate in 261 subjects from 58 families the association between DNA variation at the genes coding for the Na,K- ATPase peptides and resting metabolic rate (RMR), respiratory quotient (RQ), and percent body fat (%FAT). Five restriction fragment length polymorphisms (RFLP) at three Na,K-ATPase genes were determined: one at the α1 locus (BglII), two at the α2 locus (α2 exon 1 and α2 exon 21-22 with BglII), and two at the β locus (β MSpI and β PvuII). Haplotypes were determined from the two variable sites of the α2 gene (α2 haplotypes) and the β gene (β haplotypes). There was a strong trend for %FAT to be related to the RFLP generated by BglII at the α2 exons 21-22 in males (P = 0.06) and females (P = 0.05). RQ was (a) associated with the BglII RFLP at the α exon I (P = 0.02) and with the α28.0 kb/4.3 kb haplotype (P = 0.04) and (b) linked with the β gene MspI marker (P = 0.04) and with the β 5.3 kb/5.1 kb haplotype (P = 0.008) based on sib-pair analysis. The present study suggests that the genes encoding Na,K-ATPase may be associated or linked with RQ and perhaps with %FAT but not with RMR.