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Associations between TMEM196 polymorphisms and NSAID-exacerbated respiratory disease in asthma

Jong-Uk Lee1, Hun Soo Chang1,2, Dong Gyu Baek1

  • 1Department of Medical Bioscience, Graduate School, Soonchunhyang University, Asan.

Pharmacogenetics and Genomics
|January 30, 2019
PubMed
Abstract

Insights

Genetic variants in TMEM196 may protect against NSAID-exacerbated respiratory disease (NERD). These single-nucleotide polymorphisms (SNPs) could serve as biomarkers for predicting NERD risk in asthma patients.

Area of Science:

  • Genetics
  • Pulmonology
  • Pharmacogenomics

Background:

  • NSAID-exacerbated respiratory disease (NERD) is a distinct clinical phenotype of asthma.
  • Previous studies indicated differences in minor allele frequencies (MAF) of single-nucleotide polymorphisms (SNPs) in the transmembrane protein 196 (TMEM196) gene between aspirin-tolerant asthma (ATA) and NERD patients.

Purpose of the Study:

  • To statistically analyze genotype and haplotype distributions of TMEM196 SNPs.
  • To determine the association between TMEM196 genetic variants and the risk of developing NERD.

Main Methods:

  • Haplotypes were inferred using the PHASE algorithm, with linkage disequilibrium measured by Lewontin's D' and r values.
  • Genotype distributions were analyzed using logistic regression, incorporating age of onset, smoking status, and BMI as covariates.
  • Statistical analysis was performed using SPSS and PLINK software.

Main Results:

  • Four TMEM196 SNPs (rs9886152 C>T, rs9639334 A>G, rs9638765 A>G, rs2097811 G>A) showed significantly lower minor allele frequencies in NERD patients compared to ATA patients.
  • The minor alleles of these four SNPs demonstrated a protective association against NERD.
  • Patients homozygous for the minor alleles exhibited a reduced aspirin-induced decline in forced expiratory volume in one second.

Conclusions:

  • Minor alleles of specific TMEM196 SNPs may offer a protective effect against NERD development.
  • These TMEM196 genetic variants show potential as predictive biomarkers for NERD risk.

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