DNA Variation in the Genes of the Na,K-Adenosine Triphosphatase and Its Relation with Resting Metabolic Rate, Respiratory Quotient, and Body Fat

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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 alpha1 locus (BglII), two at the alpha2 locus (alpha2 exon 1 and alpha2 exon 21-22 with BglII), and two at the beta locus (beta MspI and beta PvuII). Haplotypes were determined from the two variable sites of the alpha2 gene (alpha2 haplotypes) and the beta gene (beta haplotypes). There was a strong trend for %FAT to be related to the RFLP generated by BglII at the alpha2 exons 21-22 in males (P = 0.06) and females (P = 0.05). RQ was (a) associated with the BglII RFLP at the alpha2 exon 1 (P = 0.02) and with the alpha2 8.0 kb/4.3 kb haplotype (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 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. (J. Clin. Invest. 1994. 93:838-843.) Key words: body composition. Na,K-ATPase genes. polymorphism. respiratory quotient. resting energy expenditure

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