Maintenance Notice

Due to necessary scheduled maintenance, the JMIR Publications website will be unavailable from Wednesday, July 01, 2020 at 8:00 PM to 10:00 PM EST. We apologize in advance for any inconvenience this may cause you.

Who will be affected?

Accepted for/Published in: JMIR Dermatology

Date Submitted: May 14, 2022
Date Accepted: May 16, 2023
Date Submitted to PubMed: Aug 26, 2023

The final, peer-reviewed published version of this preprint can be found here:

Association Between VDR and CYP24A1 Polymorphisms, Atopic Dermatitis, and Biochemical Lipid and Vitamin D Profiles in Spanish Population: Case-Control Study

González-Tarancón R, Goñi-Ros N, Salvador-Rupérez E, Hernández-Martín , Izquierdo-Álvarez S, Puzo-Foncillas J, Gilaberte-Calzada Y

Association Between VDR and CYP24A1 Polymorphisms, Atopic Dermatitis, and Biochemical Lipid and Vitamin D Profiles in Spanish Population: Case-Control Study

JMIR Dermatol 2023;6:e39567

DOI: 10.2196/39567

PMID: 37632926

PMCID: 10337012

Association between VDR and CYP24A1 polymorphisms, atopic dermatitis, and biochemical lipid and vitamin D profiles in Spanish population. A case control study

  • Ricardo González-Tarancón; 
  • Nuria Goñi-Ros; 
  • Elvira Salvador-Rupérez; 
  • Ángela Hernández-Martín; 
  • Silvia Izquierdo-Álvarez; 
  • José Puzo-Foncillas; 
  • Yolanda Gilaberte-Calzada

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.


 Citation

Please cite as:

González-Tarancón R, Goñi-Ros N, Salvador-Rupérez E, Hernández-Martín , Izquierdo-Álvarez S, Puzo-Foncillas J, Gilaberte-Calzada Y

Association Between VDR and CYP24A1 Polymorphisms, Atopic Dermatitis, and Biochemical Lipid and Vitamin D Profiles in Spanish Population: Case-Control Study

JMIR Dermatol 2023;6:e39567

DOI: 10.2196/39567

PMID: 37632926

PMCID: 10337012

Download PDF


Request queued. Please wait while the file is being generated. It may take some time.

© The authors. All rights reserved. This is a privileged document currently under peer-review/community review (or an accepted/rejected manuscript). Authors have provided JMIR Publications with an exclusive license to publish this preprint on it's website for review and ahead-of-print citation purposes only. While the final peer-reviewed paper may be licensed under a cc-by license on publication, at this stage authors and publisher expressively prohibit redistribution of this draft paper other than for review purposes.