Accepted for/Published in: JMIR Dermatology
Date Submitted: May 14, 2022
Date Accepted: May 16, 2023
Date Submitted to PubMed: Aug 26, 2023
Association between VDR and CYP24A1 polymorphisms, atopic dermatitis, and biochemical lipid and vitamin D profiles in Spanish population. A case control study
ABSTRACT
Background:
Atopic dermatitis (AD) is the most prevalent inflammatory skin disorder, characterized by impaired epidermal barrier function and an altered immune response, both of which are influenced by vitamin D deficiency. Single nucleotide polymorphisms (SNP) in VDR and CYP24A1 have been previously associated with AD.
Objective:
We sought to characterize the associations between VDR and CYP24A1 polymorphisms and the vitamin D and lipid biochemical profile in children diagnosed with AD.
Methods:
A total of 246 participants were enrolled in this study. Genotyping for polymorphisms in VDR (rs2239185, rs1544410, rs7975232, rs2238136, rs3782905, rs2239179, rs1540339, rs2107301, rs2239182, rs731236) and CYP24A1 (rs2248359, rs2296241) was performed by allele-specific PCR. Serum levels of calcium, phosphorus, and vitamin D were measured, and the biochemical lipid profile determined.
Results:
Among VDR SNP, 2239182 exerted a protective effect against AD, while rs2238136 was identified as a risk factor. The GCC haplotype (rs2239185-G, rs1540339-C, rs2238136-C) appeared to protect against the development of AD. rs2239182-CC was associated with higher 25(OH)D concentrations, while rs2238136-TT, rs2239185-GA, and rs2248359-TT were present in a large proportion of patients with serum vitamin D deficiency. rs2239185-AA, rs2239182-CC, and rs1540339-CC were associated with higher total cholesterol, rs2239182-TT with lower LDL-cholesterol, and rs2239182-TC with lower HDL-cholesterol. Both CYP24A1 SNPs (rs2296241-AA and rs2248359-TT) were associated with higher HDL-cholesterol levels.
Conclusions:
The VDR SNP rs2238136 is as risk factor for AD. Other SNPs in VDR and CYP24A1 may also lead to alterations in biochemical parameters that influence the risk of AD. Our findings highlight the complex genetic basis to AD, indicating that interrelationships between different genetic factors can lead to the development of AD.
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