特应性皮炎患者VDR (Bsml)基因多态性分析

E. Garibeh
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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. 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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. 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摘要

目的:研究VDR BsmI (rs1544410)基因作为特应性皮炎(AD)发病风险的遗传分子标志物的意义。材料和方法。本研究包括54例特应性皮炎患者(主要组)。对照组由32人组成。本研究的所有参与者都居住在Podilliya地区,并具有乌克兰血统。等位基因检测的方法是基于限制性内切酶处理后获得的限制性内切片段长度的多态性。对BsmI多态性进行了研究,国际多态性代码为rs1544410。根据Hardy-Weinberg定律确定基因型频率的正确分布。p < 0.05认为差异有统计学意义。结果和讨论。对特应性皮炎患者VDR基因单核苷酸多态性rs1544410基因型分析显示,杂合型变异(G/A)占优势。然而,等位基因A的比例达到(47.2±3.7)%,这可能表明有相当数量的人患特应性皮炎的风险增加。根据我们对VDR患者BsmI基因单核苷酸多态性的研究,A/A-基因型携带者的比例显著低于G/G -(0.028)和G/A-(0.023)基因型携带者的比例。在比较主组和对照组BsmI VDR基因单核苷酸多态性基因型和等位基因分布时,我们注意到等位基因A在特应性皮炎患者中更为常见(47.2% vs 39.07%, (OR 1.412;95% si 0.203-0.978;= 0.271)。根据所获得的资料,重度特应性皮炎患者中以A/A基因型携带者为主,而中度病程患者中以G/A基因型携带者为主。G/A-和G/G基因型携带者在病程较轻的患者中也占主导地位。其数量明显高于A/A基因型患者(p < 0.05)。VDR rs1544410基因多态性可能与特应性皮炎发病风险增加有关。VDR rs1544410基因A/A基因型携带者在特应性皮炎患者中比在对照组健康人群中更为常见。
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Polymorphism of VDR (Bsml) gene in patients with atopic dermatitis
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.
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