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Background  Left ventricular (LV) function depends on the activity of transmembrane electrolyte transporters. Failing human myocardium has lower Na + /K +  ATPase expression and higher intracellular sodium concentrations. The  ATP12A  gene encodes a catalytic subunit of an ATPase that can function as a Na + /K +  pump. We, therefore, investigated the association between LV function and common genetic variants in  ATP12A .    Methods  A random sample of 1166 participants (53.7% women; mean age 49.5 years, 44.8% hypertensive) was recruited in Belgium, Poland, Italy and Russia. We measured transmitral early and late diastolic velocities (E and A) by pulsed wave Doppler, and mitral annular velocities (e’ and a’) by tissue Doppler. Using principal component analysis, we summarized 7 Doppler indexes – namely, E, A, e’ and a’ velocities, and their ratios (E/A, e’/a’, and E/e’) – into a single diastolic score. We genotyped 5 tag SNPs (rs963984, rs9553395, rs10507337, rs12872010, rs2071490) in  ATP12A.  In our analysis we focused on rs10507337 because it is located within a transcription factor binding site.    Results  In the population-based analyses while adjusting for covariables and accounting for family clusters and country, rs10507337 C allele carriers had significantly higher E/A ( P  = 0.003), e’ ( P  = 5.8×10 −5 ), e’/a’ ( P  = 0.003) and diastolic score ( P  = 0.0001) compared to TT homozygotes. Our findings were confirmed in the haplotype analysis and in the family-based analyses in 74 informative offspring.    Conclusions  LV diastolic function as assessed by conventional and tissue Doppler indexes including a composite diastolic score was associated with genetic variation in  ATP12A . Further experimental studies are necessary to clarify the role of  ATP12A  in myocardial relaxation.    Electronic supplementary material  The online version of this article (doi:10.1186/s12881-014-0121-6) contains supplementary material, which is available to authorized users.

Left ventricular diastolic function associated with common genetic variation in ATP12Ain a general population