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TSLP Polymorphisms in Atopic Dermatitis and Atopic March in Koreans
Won Il Heo1, Kui Young Park1, Mi-Kyung Lee2
1Department of Dermatology, Chung-Ang University Hospital, Seoul, Korea.
Annals of Dermatology
|April 29, 2021
Summary
Researchers identified thymic stromal lymphopoietin (TSLP) gene variations in Korean patients with atopic dermatitis (AD) and atopic march (AM). Patients lacking these TSLP variants showed a significantly higher risk of progressing from AD to AM.
Area of Science:
- Genetics and immunology
- Allergy and immunology
- Molecular biology
Background:
- Atopic march (AM) signifies the progression from atopic dermatitis (AD) to allergic rhinitis and asthma.
- Atopic dermatitis affects up to 20% of children globally, with increasing prevalence.
- Genetic and environmental factors contribute to AD development, with recent focus on thymic stromal lymphopoietin (TSLP) gene polymorphisms.
Purpose of the Study:
- To identify thymic stromal lymphopoietin (TSLP) gene polymorphisms in Korean individuals diagnosed with atopic dermatitis (AD) or atopic march (AM).
Main Methods:
- Whole-exome sequencing was employed to analyze the TSLP gene in 20 AD patients and 20 AM patients.
- Nine single nucleotide polymorphisms (SNPs) within the TSLP gene were detected and analyzed.
- Haplotype blocks were validated using Sanger sequencing in a larger cohort of AD and AM patients.
Main Results:
- Nine TSLP SNPs (rs191607411, rs3806933, rs2289276, rs2289277, rs2289278, rs139817258, rs11466749, rs11466750, rs10073816) were identified.
- Korean patients with AD or AM lacking these nine TSLP variants exhibited an 8.14-fold increased risk of progressing from AD to AM.
- Two specific haplotype blocks (rs3806933/rs2289276 and rs11466749/rs11466750) demonstrated high linkage disequilibrium.
Conclusions:
- Increased frequency of major TSLP variants may elevate the risk of developing atopic march (AM).
- Findings support the role of TSLP gene polymorphisms in the progression of allergic diseases.
- This research can aid in developing genetic surveillance systems for early diagnosis of allergic diseases.
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