Related Experiment Video
Updated: Dec 10, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Association Between Vitamin D Receptor Gene Polymorphism rs2228570 and Allergic Rhinitis
1Department of Otolaryngology Head and Neck Surgery, Renmin Hospital of Wuhan University, Wuhan, Hubei Province, People's Republic of China.
Background:
Vitamin D receptor (VDR) gene polymorphisms are involved in a variety of immune-related diseases, and VDR is associated with allergic rhinitis. The present study explored the associations between VDR gene polymorphisms and allergic rhinitis in the Chinese population.
Methods:
The study population consisted of 400 patients with allergic rhinitis and 400 healthy controls. General characteristics were determined by interview. Blood DNA was extracted and genotyping was performed via matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. The associations of each genetic variant with risk for AR were assessed by calculating the odds ratio (OR) with 95% confidence interval (95% CI).
Results:
No significant differences were observed in general characteristics between cases and controls. The distributions of genotypes at the rs2228570 locus of the VDR gene conformed to Hardy-Weinberg equilibrium. There was a significant difference in the distribution of rs2228570 genotype (P<0.001) between cases and controls. Compared to GG and GA genotypes, the AA genotype increased the risk of AR (OR=3.27, 95% CI: 2.10-5.11, P=0.000; OR=2.58, 95% CI:1.63-4.08, P<0.001). Similar results were also observed in the dominant model (OR=1.64, 95% CI:1.24-2.17, P<0.001) and codominant model (OR=2.95, 95% CI:1.93-4.51, P<0.001). The A allele was still associated with elevated risk gene for AR after adjusting for potential confounding factors. Subgroup analyses indicated an interaction between alcohol and rs2228570 in the risk of allergic rhinitis. The A allele also increased the risk for AR in the population without asthma (OR=1.85, 95% CI:1.46-2.34, P<0.001).
Conclusion:
VDR gene polymorphism is associated with AR, and the AA genotype of rs2228570 is associated with the increased risk of AR in the Chinese population.
Related Concept Videos
Single Nucleotide Polymorphisms-SNPs
Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon...
Allergic Reactions
Allergic Drug Reactions
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

