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Updated: Oct 20, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Vitamin D Receptor Gene Polymorphisms and Risk of Atopic Dermatitis in Chinese Han Population
Yunchao Ou1, Xiaoli Jiang1, Huiwen Guan1
1Department of Dermatology, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei Province, 430000, People's Republic of China.
Background:
Studies investigated the associations between four Vitamin D receptor (VDR) common variations and interactions of gene-environment factors and atopic dermatitis (AD) in Chinese population are few.
Methods:
In this case-control study, 400 AD patients and 400 controls were genotyped for the FokI, TaqI, BsmI and ApalI variations of VDR genes by restriction fragment length polymorphism analysis. The associations between VDR genes and AD were assessed by univariate and multivariate logistic regression. The interactions between VDR genes and some risk factors were also explored using cross-over analysis. The corresponding odds ratio (ORs) and 95% confidence intervals (CI) were also calculated.
Results:
The FoKI rs2228570 polymorphism was significantly associated with an increased risk of atopic dermatitis in the co-dominant model (OR=2.93, 95% CI: 1.78-4.82. P=0.000), recessive model (OR=2.67, 95% CI: 1.68-4.26, P=0.000) and dominant model (OR=1.38, 95% CI: 1.04-1.84, P=0.028), and allele model. No significant associations were found among TaqI, BsmI and ApalI polymorphism and AD. The C-A-T-C and C-G-T-T haplotypes significantly increased the risk of atopic dermatitis. For rs2228570, the increased effects were more evident in the subgroups of age ≤8-month, cow milk and mixed, and keeping pet. Interactions between rs2228570 gene polymorphism and family history, age >8, and keeping pet increased the AD risk. The rs2228570 C allele decreased the relative mRNA expression.
Conclusion:
The FokI rs2228570 C allele of VDR gene could be a risk candidate gene for AD. Interactions between FokI polymorphism and family history and some behaviors may increase the risk of AD.
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