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干扰素-γ受体1-56C/T基因多态性与结节病遗传易感性关系的研究:一项横断面研究

Investigation of the relationship between interferon-gamma receptor 1-56C/T gene polymorphism and genetic susceptibility to lung sarcoidosis: A cross-sectional study.

作者信息

Kaymaz Serdar, Kavas Murat, Demiray Aydın, Karasu Uğur, Çobankara Veli, Boğa Sibel

机构信息

Department of Internal Medicine, Division of Rheumatology, Medicine Faculty of Pamukkale University, Denizli, Türkiye.

Department of Chest Disease and Pulmonology, Istanbul Provincial Health Directorate Istanbul Süreyyapaşa Chest Diseases and Thoracic Surgery Training and Research Hospital, Istanbul, Türkiye.

出版信息

Arch Rheumatol. 2022 May 6;38(1):1-8. doi: 10.46497/ArchRheumatol.2022.9239. eCollection 2023 Mar.

Abstract

OBJECTIVES

This study aims to investigate the relationship between the interferon-gamma receptor 1 (IFNGR1) polymorphism and susceptibility to lung sarcoidosis.

PATIENTS AND METHODS

The study included a total of 55 patients (13 males, 42 females; mean age: 46.5±9.1 years; range, 22 to 66 years) with lung sarcoidosis and 28 healthy controls (6 males, 22 females; mean age: 43.9±5.9 years; range 22 to 60 years) selected from the Turkish population. The polymerase chain reaction was used for genotyping of participants to determine single-nucleotide polymorphisms. Hardy-Weinberg equilibrium, which is considered an important tool for detecting genotyping errors, was tested. Allele and genotype frequencies of patients and controls were compared using logistic regression analysis.

RESULTS

The analyses showed no correlation between the tested IFNGR1 single-nucleotide polymorphism (rs2234711) and lung sarcoidosis (p>0.05). The categorization analysis according to the clinical features, laboratory, and radiographic characteristics showed no correlation between the tested polymorphism of IFNGR1 (rs2234711) and these characteristics (p>0.05).

CONCLUSION

The results of the study showed that the tested gene polymorphism (rs2234711) of IFNGR1 was not associated with lung sarcoidosis. More comprehensive studies are needed to verify our results.

摘要

目的

本研究旨在探讨干扰素-γ受体1(IFNGR1)基因多态性与肺结节病易感性之间的关系。

患者与方法

该研究共纳入55例肺结节病患者(男性13例,女性42例;平均年龄:46.5±9.1岁;范围22至66岁)和28名健康对照者(男性6例,女性22例;平均年龄:43.9±5.9岁;范围22至60岁),均选自土耳其人群。采用聚合酶链反应对参与者进行基因分型以确定单核苷酸多态性。检测了哈迪-温伯格平衡,这被认为是检测基因分型错误的重要工具。使用逻辑回归分析比较患者和对照者的等位基因和基因型频率。

结果

分析显示,所检测的IFNGR1单核苷酸多态性(rs2234711)与肺结节病之间无相关性(p>0.05)。根据临床特征、实验室检查和影像学特征进行的分类分析显示,所检测的IFNGR1多态性(rs2234711)与这些特征之间无相关性(p>0.05)。

结论

研究结果表明,所检测的IFNGR1基因多态性(rs2234711)与肺结节病无关。需要更全面的研究来验证我们的结果。

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本文引用的文献

1
Environmental Risk Factors for Sarcoidosis.环境因素致结节病。
Front Immunol. 2020 Jun 26;11:1340. doi: 10.3389/fimmu.2020.01340. eCollection 2020.
3
Clinical Manifestations, Diagnosis, and Treatment of Sarcoidosis.结节病的临床表现、诊断与治疗
Mayo Clin Proc Innov Qual Outcomes. 2019 Aug 2;3(3):358-375. doi: 10.1016/j.mayocpiqo.2019.04.006. eCollection 2019 Sep.
4
Sarcoidosis and the Th1 chemokine MIG.结节病与Th1趋化因子MIG
Clin Ter. 2018 Nov-Dec;169(6):e308-e313. doi: 10.7417/CT.2018.2099.

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