{"title":"Polymorphism of VDR (Bsml) gene in patients with atopic dermatitis","authors":"E. Garibeh","doi":"10.30978/ujdvk2022-3-4-5","DOIUrl":null,"url":null,"abstract":"Objective — to study the significance of the BsmI (rs1544410) gene of the VDR as a genetic molecular marker of the risk of atopic dermatitis (AD) development. \nMaterials and methods. The study included 54 patients with atopic dermatitis (the main group). The control group consisted of 32 people. All of the participants of this study lived in Podilliya region and had Ukrainian origin. The method of allele detection is based on the polymorphism of the length of restriction fragments that are obtained after treatment with certain restriction enzymes. BsmI polymorphism was studied, the international polymorphism code is rs1544410. Correct distribution of genotype frequencies was determined in accordance with Hardy—Weinberg’s law. Statistically significant differences were considered at p < 0.05. \nResults and discussion. Analysis of the genotypes of single nucleotide polymorphism rs1544410 of VDR gene in patients with atopic dermatitis showed the predominance of the heterozygous variant (G/A). However, the proportion of allele A reached (47.2 ± 3.7) %, which may indicate a significant number of people with increased risk of atopic dermatitis development. According to our study of the single nucleotide polymorphism of the BsmI gene of the VDR among the subjects of the control group, the percentage of A/A-genotype carriers was significantly lower than that of individuals with G/G (р = 0.028) and G/A-genotype (р = 0.023). While comparing the distribution of genotypes and alleles of single-nucleotide polymorphism BsmI VDR gene among individuals of the main and the control groups, we noted that allele A was more common in patients with atopic dermatitis (47.2 vs. 39.07 %, (OR 1.412; 95 % SI 0.203—0.978; р = 0.271). According to the obtained data, the carriers of the A/A-genotype dominated among the patients with severe atopic dermatitis, in contrast to the patients with a moderate course of the disease in whom G/A-genotype predominated. Carriers of the G/A- and G/G-genotypes also predominated among the patients with a mild course of the disease. Their number was significantly higher than that of the patients with the A/A-genotype (p < 0.05).Conclusions. Polymorphism of the VDR rs1544410 gene may be associated with an increased risk of atopic dermatitis development. Carriers of A/A-genotype of VDR rs1544410 gene are more common among patients with atopic dermatitis than among healthy persons of the control group.","PeriodicalId":23420,"journal":{"name":"Ukrainian Journal of Dermatology, Venerology, Cosmetology","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2022-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ukrainian Journal of Dermatology, Venerology, Cosmetology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.30978/ujdvk2022-3-4-5","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Objective — to study the significance of the BsmI (rs1544410) gene of the VDR as a genetic molecular marker of the risk of atopic dermatitis (AD) development.
Materials and methods. The study included 54 patients with atopic dermatitis (the main group). The control group consisted of 32 people. All of the participants of this study lived in Podilliya region and had Ukrainian origin. The method of allele detection is based on the polymorphism of the length of restriction fragments that are obtained after treatment with certain restriction enzymes. BsmI polymorphism was studied, the international polymorphism code is rs1544410. Correct distribution of genotype frequencies was determined in accordance with Hardy—Weinberg’s law. Statistically significant differences were considered at p < 0.05.
Results and discussion. Analysis of the genotypes of single nucleotide polymorphism rs1544410 of VDR gene in patients with atopic dermatitis showed the predominance of the heterozygous variant (G/A). However, the proportion of allele A reached (47.2 ± 3.7) %, which may indicate a significant number of people with increased risk of atopic dermatitis development. According to our study of the single nucleotide polymorphism of the BsmI gene of the VDR among the subjects of the control group, the percentage of A/A-genotype carriers was significantly lower than that of individuals with G/G (р = 0.028) and G/A-genotype (р = 0.023). While comparing the distribution of genotypes and alleles of single-nucleotide polymorphism BsmI VDR gene among individuals of the main and the control groups, we noted that allele A was more common in patients with atopic dermatitis (47.2 vs. 39.07 %, (OR 1.412; 95 % SI 0.203—0.978; р = 0.271). According to the obtained data, the carriers of the A/A-genotype dominated among the patients with severe atopic dermatitis, in contrast to the patients with a moderate course of the disease in whom G/A-genotype predominated. Carriers of the G/A- and G/G-genotypes also predominated among the patients with a mild course of the disease. Their number was significantly higher than that of the patients with the A/A-genotype (p < 0.05).Conclusions. Polymorphism of the VDR rs1544410 gene may be associated with an increased risk of atopic dermatitis development. Carriers of A/A-genotype of VDR rs1544410 gene are more common among patients with atopic dermatitis than among healthy persons of the control group.