伊朗儿童和青少年1型糖尿病患者PTPN22 C1858T和GAD65抗体的遗传分析

Q2 Biochemistry, Genetics and Molecular Biology Iranian Biomedical Journal Pub Date : 2024-12-01
Pourya Fathollahzadeh, Farshad Foroughi, Shamim Nonejad, Fatemeh Saffari, Amir Javadi, Sanaz Keshavarz Shahbaz
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引用次数: 0

摘要

1型糖尿病(T1D)是一种自身免疫性疾病,破坏胰腺β细胞,导致慢性高血糖。遗传因素,特别是PTPN22基因C1858T多态性,被认为增加了T1D的易感性。本研究探讨了伊朗儿童和成人T1D患者PTPN22基因C1858T多态性与血清GAD65自身抗体水平的关系,以提高对该人群遗传易感性的认识。方法和材料:本病例对照研究包括来自伊朗Qazvin Qods医院的98例T1D患者和94例健康对照,年龄和性别匹配。采集血样,采用ELISA法检测血清GAD65自身抗体水平。提取外周血单个核细胞基因组DNA, PCR扩增PTPN22 C1858T多态性。PCR产物经RFLP和琼脂糖凝胶电泳分析。采用IBM-SPSS软件24版进行统计学分析,采用卡方检验和学生t检验,比较患者与对照组C1858T多态性患病率和GAD65自身抗体水平。结果:研究纳入98例T1D患者(年龄3-18岁;54%男性)和94名健康对照者(年龄范围4-18岁;50%的男性)。T1D患者血清GAD65抗体水平(平均:85.6 U/mL)显著高于对照组(平均:12.4 U/mL;P = 0.001)。CT基因型存在于16.3%的T1D患者中,而对照组为9.6%,T等位基因频率在患者中为8.2%,而对照组为4.8%。然而,这些差异不显著(p = 0.10和p = 0.09)。T1D患者中,CT基因型患者GAD65平均水平为92.1 U/mL, CC基因型患者GAD65平均水平为83.2 U/mL,差异无统计学意义(p = 0.45)。分析还显示,患者组中53%为男性,平均年龄为10.2岁,而对照组中51%为男性,平均年龄为9.8岁。CT基因型与T1D风险增加1.8倍相关,但这种关联无统计学意义(p = 0.08)。结论和讨论:我们的研究结果表明,T1D患者中1858T等位基因频率显著增加,尽管统计上不显著。PTPN22 C1858T多态性与GAD65自身抗体水平之间的关系值得进一步研究,以建立明确的遗传联系。这些发现强调了遗传筛查在预测T1D风险方面的潜在重要性,这可能导致这种自身免疫性疾病的早期诊断和改进管理策略。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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25th National and 11th International Annual Congress on Research and Technology of Iranian Medical Sciences Students, Urmia, Iran, 5-7 September, 2024
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来源期刊
Iranian Biomedical Journal
Iranian Biomedical Journal Biochemistry, Genetics and Molecular Biology-Biochemistry, Genetics and Molecular Biology (all)
CiteScore
3.20
自引率
0.00%
发文量
42
审稿时长
8 weeks
期刊最新文献
25th National and 11th International Annual Congress on Research and Technology of Iranian Medical Sciences Students, Urmia, Iran, 5-7 September, 2024 25th National and 11th International Annual Congress on Research and Technology of Iranian Medical Sciences Students, Urmia, Iran, 5-7 September, 2024 25th National and 11th International Annual Congress on Research and Technology of Iranian Medical Sciences Students, Urmia, Iran, 5-7 September, 2024 25th National and 11th International Annual Congress on Research and Technology of Iranian Medical Sciences Students, Urmia, Iran, 5-7 September, 2024 25th National and 11th International Annual Congress on Research and Technology of Iranian Medical Sciences Students, Urmia, Iran, 5-7 September, 2024
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