Abstract
AimThe NET, encoded by SLC6A2, is responsible for presynaptic NE-reuptake. 123I-mIBG is clinically used to evaluate cardiac sympathetic function. However, it is unknown if polymorphism of SLC6A2 influences cardiac sympathetic activity as assessed with 123I-mIBG. Therefore we studied the influence of SLC6A2 SNPs on myocardial 123I-mIBG parameters in CHF. Materials and MethodsForty-nine adults with stable CHF (age 66.5 ± 8.1 years, LVEF 22.3 ± 6.4) were enrolled. Fifteen minutes (early) and 4 hours (late) after administration of 123I-mIBG planar images were acquired. The H/M ratio was calculated from the manually drawn ROI over the left ventricle and a fixed mediastinal ROI. Fourteen exons of the SLC6A2 gene were analyzed from whole blood samples. ResultsWe found 6 different SLC6A2 SNPs, although none were functional. LVEF was the only independent predictor for early (adjusted R2 = 0.063, p = 0.045) and late H/M ratio (adjusted R2 = 0.116, p = 0.010). NT-proBNP was the only independent predictor for 123I-mIBG WO (adjusted R2 = 0.074, p = 0.032). SLC6A2 SNPs were not associated with any myocardial 123I-mIBG-derived parameter. ConclusionIn this specific CHF population polymorphism of SLC6A2 gene was not associated with any 123I-mIBG derived parameters.
Highlights
NE is the neurotransmitter of the cardiac sympathetic system and is stored in vesicles in the presynaptic nerve terminals (Figure 1)
In this specific chronic heart failure (CHF) population polymorphism of SLC6A2 gene was not associated with any 123I-mIBG derived parameters. (J Nucl Cardiol 2018;25:900–6.)
In a familial form of idiopathic POTS a SNP of the SLC6A2 gene in exon 9 that resulted in loss of function of the NET was associated with increased NE plasma levels and increased heart rate.[10,11]
Summary
NE is the neurotransmitter of the cardiac sympathetic system and is stored in vesicles in the presynaptic nerve terminals (Figure 1). The NET is a member of SLC6A2 and is encoded by the SLC6A2 gene[3] located on human chromosome 16q12.2.4 This gene is encoded by 16 exons which span 45 kb from the start to the stop codon.[5] SNPs of the SLC6A2 gene which result in amino acid substitutions have been reported Many of these variations were derived from specific psychiatric and cardiovascular phenotypes and only a limited number have been examined for alterations in function.[6,7,8,9] In a familial form of idiopathic POTS a SNP of the SLC6A2 gene in exon 9 that resulted in loss of function of the NET was associated with increased NE plasma levels and increased heart rate.[10,11]
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