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Updated: Sep 14, 2025

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Identifying the Genetic Ancestry of the Pediatric Obesity-Related Asthma Variant (rs6494395) at Rps27l

David Yang1, Anthony Griffen1, Mariko Isshiki1

  • 1Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA.

Pediatric Pulmonology
|July 22, 2025
PubMed

Insights

The genetic variant rs6494395, linked to obesity-related asthma in children, originates from African ancestry. This finding is crucial for understanding health disparities in asthma.

Area of Science:

  • Genetics
  • Immunology
  • Pediatrics

Background:

  • Obesity-related asthma (OA) disproportionately affects minority children.
  • A specific genetic variant, rs6494395, was previously linked to OA and showed higher frequency in Hispanic/Latino and African American children.
  • This variant was associated with reduced RPS27L expression in CD4+ T-cells.

Purpose of the Study:

  • To investigate the ancestry-specific origins of the rs6494395 genetic variant.
  • To determine if the variant's prevalence in certain ethnic groups is due to its ancestral origin.

Main Methods:

  • Global genomic ancestry analysis using ADMIXTURE.
  • Local genomic ancestry analysis using RFMix on the rs6494395 region.
  • Study conducted in a multi-ethnic pediatric cohort with OA.

Main Results:

  • The genetic variant rs6494395 was determined to have African genetic ancestral origin.
  • This finding supports the higher allele frequency observed in African and Hispanic/Latino populations.

Conclusions:

  • Identifying the ancestral origin of genetic variants like rs6494395 is key to understanding OA in diverse populations.
  • This knowledge can inform precision medicine strategies and help reduce asthma health disparities.
Abstract

Keywords:
asthmageneticsobesity

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