A pilot study of interferon-induced helicase and glutamate decarboxylase gene polymorphism with autoimmune thyroid disease.

Q2 Health Professions

Journal of immunoassay & immunochemistry Pub Date : 2025-01-02 Epub Date: 2024-12-05 DOI:10.1080/15321819.2024.2435856

Sherin Sobhy Elnaidany, Abdlhamid Abdo Esmail, Enas Sobhy Zahran, Maram Fathi, Shimaa Kamal Zewain

{"title":"A pilot study of interferon-induced helicase and glutamate decarboxylase gene polymorphism with autoimmune thyroid disease.","authors":"Sherin Sobhy Elnaidany, Abdlhamid Abdo Esmail, Enas Sobhy Zahran, Maram Fathi, Shimaa Kamal Zewain","doi":"10.1080/15321819.2024.2435856","DOIUrl":null,"url":null,"abstract":"Background: Numerous genes are involved in immune system modulation, and their polymorphisms may contribute to developing autoimmune disorders. Genetic variation contributes significantly to disease susceptibility to autoimmune thyroid disease (AITD).Objectives: This work aims to investigate the role of single-nucleotide polymorphisms (SNPs) of interferon induced with helicase C domain 1 (IFIH1) rs1990760 and glutamate decarboxylase (GAD) rs769404 in AITD development.Methods: The study had 330 participants, including 153 cases of Hashimoto's thyroiditis (HT), 77 cases of Graves' disease (GD), and 100 healthy controls. All subjects underwent medical history assessment and clinical evaluation. Tests were conducted using real-time PCR, including genotyping of IFIH1 (rs1990760) and GAD (rs769404) via an allele discrimination assay.Results: Most patients with AITD were females. About 18.3% of HT cases and 15.6% of GD cases have a positive family history of thyroid disease. A significant statistical difference was observed between AITD cases and control regarding IFIH1 (rs1990760) and GAD (rs769404) gene polymorphism. Moreover, GD patients, HT patients, and the control group showed increased CT and TT alleles in patients compared to those in controls.Conclusion: IFIH1 and GAD polymorphisms are involved in AITDs (HT and GD) development and are associated with some clinical presentations. HT and GD cases had a positive family history of thyroid disease. There was a significant statistical difference between AITD cases and control regarding IFIH1 (rs1990760) and GAD (rs769404) gene polymorphism.","PeriodicalId":15990,"journal":{"name":"Journal of immunoassay & immunochemistry","volume":" ","pages":"106-121"},"PeriodicalIF":0.0000,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of immunoassay & immunochemistry","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1080/15321819.2024.2435856","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/12/5 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"Health Professions","Score":null,"Total":0}

引用次数: 0

Abstract

Background: Numerous genes are involved in immune system modulation, and their polymorphisms may contribute to developing autoimmune disorders. Genetic variation contributes significantly to disease susceptibility to autoimmune thyroid disease (AITD).

Objectives: This work aims to investigate the role of single-nucleotide polymorphisms (SNPs) of interferon induced with helicase C domain 1 (IFIH1) rs1990760 and glutamate decarboxylase (GAD) rs769404 in AITD development.

Methods: The study had 330 participants, including 153 cases of Hashimoto's thyroiditis (HT), 77 cases of Graves' disease (GD), and 100 healthy controls. All subjects underwent medical history assessment and clinical evaluation. Tests were conducted using real-time PCR, including genotyping of IFIH1 (rs1990760) and GAD (rs769404) via an allele discrimination assay.

Results: Most patients with AITD were females. About 18.3% of HT cases and 15.6% of GD cases have a positive family history of thyroid disease. A significant statistical difference was observed between AITD cases and control regarding IFIH1 (rs1990760) and GAD (rs769404) gene polymorphism. Moreover, GD patients, HT patients, and the control group showed increased CT and TT alleles in patients compared to those in controls.

Conclusion: IFIH1 and GAD polymorphisms are involved in AITDs (HT and GD) development and are associated with some clinical presentations. HT and GD cases had a positive family history of thyroid disease. There was a significant statistical difference between AITD cases and control regarding IFIH1 (rs1990760) and GAD (rs769404) gene polymorphism.

查看原文本刊更多论文

干扰素诱导解旋酶和谷氨酸脱羧酶基因多态性与自身免疫性甲状腺疾病的初步研究。

背景：许多基因参与免疫系统调节，它们的多态性可能导致自身免疫性疾病的发生。遗传变异对自身免疫性甲状腺疾病（AITD）的易感性有重要影响。目的：本研究旨在探讨解旋酶C结构域1 (IFIH1) rs1990760和谷氨酸脱羧酶（GAD） rs769404诱导的干扰素单核苷酸多态性（snp）在AITD发展中的作用。方法：330例参与者，其中桥本甲状腺炎（HT） 153例，Graves病（GD） 77例，健康对照100例。所有受试者进行病史评估和临床评价。采用实时荧光定量PCR进行检测，包括通过等位基因鉴别法对IFIH1 （rs1990760）和GAD （rs769404）进行基因分型。结果：AITD患者以女性居多。约18.3%的HT病例和15.6%的GD病例有甲状腺疾病家族史。AITD病例与对照组IFIH1 （rs1990760）和GAD （rs769404）基因多态性差异有统计学意义。GD患者、HT患者和对照组的CT和TT等位基因均高于对照组。结论：IFIH1和GAD多态性参与了AITDs （HT和GD）的发展，并与一些临床表现有关。HT和GD患者均有甲状腺疾病家族史。AITD病例与对照组在IFIH1 （rs1990760）和GAD （rs769404）基因多态性上有显著的统计学差异。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Journal of immunoassay & immunochemistry 医学-免疫学

CiteScore

3.50

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： The Journal of Immunoassay & Immunochemistry is an international forum for rapid dissemination of research results and methodologies dealing with all aspects of immunoassay and immunochemistry, as well as selected aspects of immunology. They include receptor assay, enzyme-linked immunosorbent assay (ELISA) in all of its embodiments, ligand-based assays, biological markers of ligand-receptor interaction, in vivo and in vitro diagnostic reagents and techniques, diagnosis of AIDS, point-of-care testing, clinical immunology, antibody isolation and purification, and others.