儿童特应性疾病表型的个体化基因型标记

IF 0.2 Q4 MEDICINE, GENERAL & INTERNAL
V. Dytiatkovskyi
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引用次数: 0

摘要

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。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Personalized genotype markers of the atopic disorders phenotypes in children
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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来源期刊
Medical Perspectives-Medicni Perspektivi
Medical Perspectives-Medicni Perspektivi MEDICINE, GENERAL & INTERNAL-
CiteScore
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审稿时长
9 weeks
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