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Updated: Nov 24, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Relationship between arginase genes polymorphisms and preschool wheezing phenotypes.
Pinar Gokmirza Ozdemir1, Damla Eker2, Velat Celik1
1Department of Pediatric Allergy and Immunology, Trakya University School of Medicine, Edirne, Turkey.
Genetic variations in the arginase I (ARG1) gene are linked to preschool wheezing (PSW) phenotypes. Specific ARG1 haplotypes and genotypes show significant associations with different PSW subtypes and overall risk in children.
Area of Science:
- Genetics
- Pediatrics
- Respiratory Medicine
Background:
- Previous studies linked arginase I (ARG1) and arginase II (ARG2) genes to asthma.
- Associations between ARG gene polymorphisms and preschool wheezing (PSW) phenotypes remain underexplored.
Purpose of the Study:
- To investigate the relationship between genetic variations in ARG1 and ARG2 genes and PSW phenotypes.
- To identify specific genetic markers associated with different PSW subtypes.
Main Methods:
- Genotyping of six single nucleotide polymorphisms (SNPs) in ARG1 and six in ARG2 in 83 patients and 86 healthy controls.
- Analysis of 18 ARG1 and 31 ARG2 haplotypes to determine their distribution in episodic wheezing (EW) and multiple-trigger wheezing (MW) subgroups compared to controls.
Main Results:
- The ARG1 rs2781667T>C (CC genotype) and ARG1 haplotype 4 were significantly more frequent in the MW group than the EW group.
- ARG1 haplotype 5 was more frequent, and haplotype 9 was less frequent in all patients compared to healthy controls.
- ARG1 haplotype 2 was significantly more frequent in the EW group than the MW group.
Conclusions:
- Genetic variations within the ARG1 gene show a potential association with PSW phenotypes.
- Specific ARG1 polymorphisms and haplotypes may influence the risk and characteristics of preschool wheezing.
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