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Updated: May 21, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Roles of Single Nucleotide Polymorphisms in the SLC6A2 Gene in the Risk of Vasovagal Syncope Among Children in

Minmin Wang1, Meng Li1, Haizhao Zhao1

  • 1Department of Pediatrics Qilu Hospital of Shandong University Jinan Shandong China.

Health Science Reports
|March 21, 2025
PubMed

Insights

Vasovagal syncope (VVS) in children is linked to specific SLC6A2 gene variations, like rs2242446. Low vitamin D and family history also increase VVS risk, suggesting genetic and environmental factors contribute to fainting.

Area of Science:

  • Genetics
  • Pediatrics
  • Cardiology

Background:

  • Vasovagal syncope (VVS) is a common cause of fainting in children.
  • Its etiology is influenced by a complex interplay of genetic and environmental factors.
  • The SLC6A2 gene plays a role in the norepinephrine system, crucial for cardiovascular regulation.

Purpose of the Study:

  • To investigate the association between SLC6A2 gene polymorphisms and vasovagal syncope in pediatric patients.
  • To explore potential gene-environment interactions contributing to VVS etiology.
  • To identify genetic and clinical risk factors for VVS in children.

Main Methods:

  • A case-control study involving 71 children with VVS and 71 healthy controls.
  • Genotyping of five single nucleotide polymorphisms (SNPs) in the SLC6A2 gene (rs2242446, rs168924, rs2397771, rs5564, rs5569) using TaqMan assays.
  • Analysis of clinical, hematological data, and vitamin D levels alongside genetic information.

Main Results:

  • The TT genotype of rs2242446 and the AA genotype of rs5564 in the SLC6A2 gene were significantly associated with an increased risk of VVS.
  • Multivariate analysis confirmed rs2242446 as a significant independent risk factor for VVS.
  • Family history, elevated hemoglobin, increased mean corpuscular volume, and low vitamin D levels were also identified as notable risk factors.

Conclusions:

  • Specific polymorphisms in the SLC6A2 gene, particularly rs2242446, may contribute to the susceptibility of VVS in children.
  • Gene-environment interactions, including vitamin D deficiency and family history, are important in VVS development.
  • Further research is warranted to validate these findings and explore therapeutic strategies targeting the norepinephrine system.
Abstract

Keywords:
SLC6A2childrenetiologyvasovagal syncope

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