Personalized genotype markers of the atopic disorders phenotypes in children

IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL Medical Perspectives-Medicni Perspektivi Pub Date : 2023-06-30 DOI:10.26641/2307-0404.2023.2.283346
V. Dytiatkovskyi
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Abstract

The goal of the study was to elucidate the impact of the single nucleotide variants rs11466749 of the thymic stromal lymphopoietin gene, rs_7216389 of the orsomucoid-1-like protein 3 gene, and rs10052957 of the human nuclear glucocorticoid receptor subfamily 3, group C, member 1 gene on the development of the mono-organic phenotype “atopic eczema” or the poly-organic “atopic eczema + allergic rhinitis/allergic rhino-conjunctivitis”. We recruited 101 patients into the main and 105 into control groups aged from 3 to 18 years old. Patients of the main group suffered from atopic eczema (58 children) and atopic eczema + allergic rhinitis/allergic rhino-conjunctivitis (43 children). Patients of the control group  suffered from the digestive tract pathology. Main group patients were genotyped for the A/A, A/G, G/G of rs11466749, C/T, C/C and T/T of rs_7216389 and A/A, A/G and G/G of rs10052957; patients of the control group were genotyped for the A/A, A/G, G/G of rs11466749, C/T, C/C and T/T of rs_7216389 by polymerase chain reaction in real time with restricted fragment length polymorphism. Results: no significant differences in rs11466749 among the main and control groups, the most common variant is A/A – 55.2% (mono-organic) and 55.8% (poly-organic); T/T rs_7216389 is significantly the most common in poly-organic phenotype – 39.5%; rs10052957: A/G variant is significantly most common in mono-organic phenotype – 51.7% and G/G – in the poly-organic phenotype – 62.8%. The G/G rs11466749 variant has a trending to significance direct 0.173 association and increased odds ratio = 5.85 (0.63-54.31) for the poly-organic phenotype and protective impact onto the mono-organic phenotype -0.173 (0.17 (0.02-1.59); T/T rs7216389 variant increases the risk of poly-organic phenotype: 0.227, odds ratio = 2,79 (1.14-6.85) and decreases the risk of mono-organic” phenotype: -0.227, 0.36 (0.15-0.88); A/G rs_10052957 variant significantly increases the risk the mono-organic phenotype: 0.215, odds ratio = 2.5 (1.08-5.56)) and decreases risk of poly-organic phenotype: 0.215, odds ratio = 0.4 (0.18-0.93); G/G rs_10052957 variant significantly increases the risk of the poly-organic phenotype: 0.263, odds ratio = 2.97 (1.31-6.74)) and decreases for the mono-organic phenotype: -0.263, odds ratio = 0.34 (0.15-0.76)). Genotype variant T/T rs_7216389 of the orsomucoid-1-like protein 3 gene significantly increases the risk of developing the poly-organic atopic phenotype by 2.79 times and protects against the mono-organic atopic phenotype by 0.34 times. G/G genotype variant of rs10052957 of the human glucocorticoid receptor subfamily, group C, member 1 gene significantly increases the risk of developing the poly-organic phenotype by 2.97 times, protecting against mono-organic atopic phenotype by 0.34 times.
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儿童特应性疾病表型的个体化基因型标记
本研究旨在阐明胸腺基质淋巴生成素基因rs11466749、orsomucoid-1-like protein 3基因rs_7216389、人核糖皮质激素受体3亚家族C组成员1基因rs_10052957对单有机表型“特应性湿疹”或多有机表型“特应性湿疹+变应性鼻炎/变应性鼻结膜炎”发生的影响。我们招募了101例患者作为主要组,105例患者作为对照组,年龄在3 ~ 18岁之间。主组为特应性湿疹58例,特应性湿疹+变应性鼻炎/变应性鼻结膜炎43例。对照组患者出现消化道病变。主组患者分别对rs11466749的A/A、A/G、G/G基因分型,rs7216389的C/T、C/C、T/T基因分型,rs10052957的A/A、A/G、G/G基因分型;对照组患者采用限制性片段长度多态性,采用聚合酶链反应实时分型rs11466749的A/A、A/G、G/G位点,rs_7216389的C/T、C/C、T/T位点。结果:rs11466749在主组和对照组间无显著差异,最常见的变异为A/A - 55.2%(单有机)和55.8%(多有机);T/T rs_7216389在多有机表型中最常见,占39.5%;rs10052957: A/G变异在单有机表型中最常见(51.7%),在多有机表型中最常见(62.8%)。G/G rs11466749变异与多有机表型直接相关,比值比增加= 5.85(0.63-54.31),对单有机表型具有保护作用-0.173 (0.17 (0.02-1.59);T/T rs7216389变异增加多有机表型风险:0.227,比值比= 2.79(1.14 ~ 6.85),降低单有机表型风险:-0.227,0.36 (0.15 ~ 0.88);A/G rs_10052957变异显著增加单有机表型的风险:0.215,优势比= 2.5(1.08 ~ 5.56)),显著降低多有机表型的风险:0.215,优势比= 0.4 (0.18 ~ 0.93);G/G rs_10052957变异显著增加多有机表型的风险:0.263,优势比= 2.97(1.31-6.74)),显著降低单有机表型的风险:-0.263,优势比= 0.34(0.15-0.76))。orsomucoid-1-like protein 3基因的基因型变异T/T rs_7216389显著提高多有机特应性表型发生风险2.79倍,显著降低单有机特应性表型发生风险0.34倍。人糖皮质激素受体亚家族C组成员1基因rs10052957的G/G基因型变异使发生多有机表型的风险显著增加2.97倍,使发生单有机特应性表型的风险显著增加0.34倍。
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来源期刊
Medical Perspectives-Medicni Perspektivi
Medical Perspectives-Medicni Perspektivi MEDICINE, GENERAL & INTERNAL-
CiteScore
0.40
自引率
0.00%
发文量
85
审稿时长
9 weeks
期刊最新文献
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