电邮这篇文章 细胞因子基因多态性变异组合在测定儿童Legg-Calvet-Perthes病中的作用
- 作者: Shabaldin N.A.1,2, Shabaldin A.V.1,3, Apalko S.V.4, Tsepokina A.V.3, Rovda Y.I.1
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隶属关系:
- Kemerovo State Medical University of the Ministry of Health of the Russian Federation
- Kuzbass Regional Children’s Clinical Hospital
- Institute for Complex Issues of Cardiovascular Diseases
- City Hospital No. 40 of the Kurortny District
- 期: 卷 8, 编号 4 (2020)
- 页面: 395-406
- 栏目: Original Study Article
- ##submission.dateSubmitted##: 03.07.2020
- ##submission.dateAccepted##: 15.10.2020
- ##submission.datePublished##: 09.01.2021
- URL: https://journals.eco-vector.com/turner/article/view/34927
- DOI: https://doi.org/10.17816/PTORS34927
- ID: 34927
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详细
论证：Legg-Calvet-Perthes病以股骨头特发性坏死为特征。该疾病的早期阶段与缺氧引起的因子和白细胞介素6产生过多的髋关节滑膜炎的发展有关。细胞因子基因的个体多态性变异与Legg-Calvet-Perthes病的相关性也得到了证实。细胞因子调节串级紊乱是Legg-Calvet-Perthes病早期滑膜炎症发病机制的重要环节。因此，这一过程的确定将与促炎细胞因子和抗炎细胞因子基因多态性的某种组合有关。
目的是研究促炎和抗炎白细胞介素基因多态性与Legg-Calvet-Perthes病的关系。
材料与方法。该研究以病例对照形式进行。主要组为26例Legg-Calvet-Perthes病儿童，对照组为40例健康儿童（主要组和对照组年龄分别为3至11岁）。基因分型IL10 (rs1800896)、IL13 (rs20541)、IL18 (rs187238)、IL18 (rs5744292)、IL1a (rs1800587)、IL1RA (POL_GF_58)、IL1Ra (rs4251961)、IL1B (rs16944)、IL1B (rs1143634)、IL4 (POL_GF_59)、IL4 (rs2243250)、IL6 (rs1800796)、IL6 (rs1800795)、INFγ (rs2430561)、TGFβ (rs1800469)、TNF (rs1800629)，通过使用TaqMan探针的聚合酶反应方法，对Thermo Thermo Scientific（美国）在ViiATM 7 RealTime PCR System的放大器（Life Technologies，美国）上生产的相应基因多态性变体进行分析。使用SNPstats程序和Multifactor Dimensionality Reduction对结果进行统计处理。
结果。细胞因子基因多态变异体的3种独立增强性Legg-Calvet-Perthes病基因型：IL10 （rs1800896；T>C）*T/C（优势率为6.50），IL4（POL_GF_49，VNTR，Intron4）*2R/2R（优势率为12.32），IL6（rs1800796；G>C）*G/C（优势率为4.08）。IL4的两个多态变异（POL_GF_49，VNTR，Intron4和rs2243250；C>T）与Legg-Calvet-Perthes病的测定有明显的协同作用。IL6（rs1800796；G>C）和TNFα（rs1800629，G>A）基因间相互作用证明了在Legg-Calvet-Perthes病的测定中存在中度协同作用。IL18（rs5744292，T>C）和TGFβ（rs1800469，A>G）多态变异基因在Legg-Calvet-Perthes病之间存在中度拮抗和基因间互作。
结果。因此，Legg-Calvet-Perthes的滑膜炎发病机制和随后的骨坏死与促炎细胞因子和抗炎细胞因子基因的多态变异体以及促过敏IL4基因的DNA变异体组合有关。
全文:
作者简介
Nikita Shabaldin
Kemerovo State Medical University of the Ministry of Health of the Russian Federation; Kuzbass Regional Children’s Clinical Hospital
编辑信件的主要联系方式.
Email: Shabaldin.nk@yandex.ru
ORCID iD: 0000-0001-8628-5649
MD, PhD, Associate Professor of the Department of Child Surgical Diseases
俄罗斯联邦, KemerovoAndrey Shabaldin
Kemerovo State Medical University of the Ministry of Health of the Russian Federation; Institute for Complex Issues of Cardiovascular Diseases
Email: weit2007@yandex.ru
ORCID iD: 0000-0002-8785-7896
MD, PhD, D.Sc., Associate Professor, Professor of the Department of Microbiology, Immunology and Virology
俄罗斯联邦, KemerovoSvetlana Apalko
City Hospital No. 40 of the Kurortny District
Email: svetlana.apalko@gmail.com
ORCID iD: 0000-0002-3853-4185
PhD in biology, Head of the Biobanking and Translational Medicine Sector
俄罗斯联邦, Saint PetersburgAnna Tsepokina
Institute for Complex Issues of Cardiovascular Diseases
Email: cepoav1991@gmail.com
ORCID iD: 0000-0002-4467-8732
MD, Junior Researcher of the Laboratory of Genomic Medicine
俄罗斯联邦, KemerovoYuri Rovda
Kemerovo State Medical University of the Ministry of Health of the Russian Federation
Email: y.i.rovda@rambler.ru
ORCID iD: 0000-0001-8310-5868
MD, PhD, D.Sc., Professor, Professor of the Department of Pediatrics and Neonatology
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