The Arg389Gly β1-adrenergic receptor gene polymorphism and susceptibility to faint during head-up tilt test

Márquez, Manlio F.; Hernández-Pacheco, Guadalupe; Hermosillo, Antonio G.; Gómez, Jorge; Cárdenas, Manuel; Vargas‐Alarcón, Gilberto

doi:10.1093/europace/eum059

Cited by 37 publications

(29 citation statements)

References 21 publications

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“…The few papers concerning the genetic predisposition to vasovagal syncope that have so far been published [17,18,22,24] have described associations between single nucleotide polymorphisms of genes influencing the adrenergic [17,18,22] and angiotensin pathways [24], but there are no studies exploring the genetic factors related to the endothelin system in patients with a history of unexplained syncope.…”

Section: Discussionmentioning

confidence: 99%

Endothelin system polymorphisms in tilt test-induced vasovagal syncope

et al. 2009

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Introduction Genetics may be involved in the pathophysiology of vasovagal syncope. The 3A/4A polymorphism of the EDN1 gene affects the expression of endothelin-1, and the H323H T/C polymorphism of the EDNRA gene encoding for the endothelin type A receptor has been associated with cardiovascular pathologies. As the endothelin system participates in the regulation of cardiovascular homeostasis, the aim of this study was to analyse the role of these genetic variants in influencing tilt-induced vasovagal syncope. Materials and methods We recorded the cardiovascular parameters of 107 otherwise healthy subjects with recurrent unexplained syncope who underwent a head-up tilt test; 58 (54%) fainted. Results In terms of the EDNRA polymorphism, eight subjects (8%) had the T/T genotype, 41 were heterozygous (38%) and 58 homozygous (54%) for the C allele. Sixty subjects (56%) carried homozygosis for the 3A allele of the EDN1 polymorphism and 47 were heterozygous (44%). The 4A allele was significantly more frequent in the patients who responded positively to the tilt test than in those who did not: the relative odds ratios and confidence intervals at univariate and multivariate analyses were respectively 2.37 (1.07-5.26) and 2.41 (1.05-5.49). Comparisons with a control group further supported these data. Among the tilt-positive patients, the carriers of the 4A allele were more likely to have a vasodepressive pattern than those who were homozygous for the 3A variant. Conclusion In conclusion, the 3A/4A polymorphism of the EDN1 gene affects susceptibility to syncope, and the 4A variant associated with increased endothhelin-1 expression may promote vasodepressive hemodynamic responses during tilt testing.

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Section: Discussionmentioning

confidence: 99%

Endothelin system polymorphisms in tilt test-induced vasovagal syncope

et al. 2009

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“…Furthermore, our data show that patients carrying the EDN1 4A allele are significantly more likely to develop vasodepressive syncope (type 3), thus suggesting that genetic altera- tions in the endothelin system may be associated with susceptibility to fainting during tilt testing by preferentially favoring depressor responses to orthostatic stress. The few papers concerning the genetic predisposition to vasovagal syncope that have so far been published [17,18,22,24] have described associations between single nucleotide polymorphisms of genes influencing the adrenergic [17,18,22] and angiotensin pathways [24], but there are no studies exploring the genetic factors related to the endothelin system in patients with a history of unexplained syncope.…”

Section: Discussionmentioning

confidence: 99%

Endothelin system polymorphisms in tilt test-induced vasovagal syncope

Sorrentino

Forleo²,

Iacoviello³

et al. 2009

Clin Auton Res

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“…Furthermore, genetic studies showed association between certain single nucleotide polymorphisms and vasovagal syncope [11,12,14]. Both observations suggest a genetic basis for the condition.…”

Section: Introductionmentioning

confidence: 92%