Confirming the TMEM232 gene associated with atopic dermatitis through targeted capture sequencing
Jie Zheng1,2, Yuan-Yuan Wu1,2, Wen-Liang Fang3
1Department of Dermatology of First Affiliated Hospital, and Institute of Dermatology, Anhui Medical University, Science and Teaching Building, 81 Meishan Road, Hefei City, 230032, Anhui Province, China.
Scientific Reports
|November 9, 2021
Summary
This study investigated the 5q22.1 region
Area of Science:
- Genetics
- Dermatology
- Molecular Biology
Background:
- Atopic dermatitis (AD) is a prevalent skin condition.
- Previous research suggests a link between the 5q22.1 chromosomal region and AD susceptibility.
Purpose of the Study:
- To identify specific susceptibility genes for atopic dermatitis within the 5q22.1 region.
- To confirm the association using haplotype analysis and targeted capture sequencing.
Main Methods:
- Haplotype reconstruction using SNP and deletion data from 3624 AD patients and 5076 controls.
- Targeted capture sequencing of the 5q22.1 region in selected samples.
- Gene-level enrichment analysis utilizing loss-of-function variants.
Main Results:
- A specific haplotype (H15) showed a strong association with AD (P = 3.92 × 10⁻¹⁰).
- Targeted sequencing did not identify co-segregating mutations.
- Enrichment analysis revealed TMEM232 as significantly associated with AD (P = 7.33 × 10⁻⁵).
Conclusions:
- The TMEM232 gene is confirmed as a susceptibility gene for atopic dermatitis.
- Haplotype analysis and targeted sequencing provide evidence for TMEM232's role in AD pathogenesis.
