埃及白塞氏病患者的蛋白酪氨酸磷酸酶非受体 2 型 (PTPN2) 基因多态性(rs2542151 和 rs7234029):初步报告。

IF 2.9 3区 医学 Q2 RHEUMATOLOGY Clinical Rheumatology Pub Date : 2024-11-01 Epub Date: 2024-09-25 DOI:10.1007/s10067-024-07128-7
Doaa H S Attia, Marwa Alkaffas, Mervat Eissa, Laila Rashed, Rasha A M Khattab, Radwa Elzanaty, Rabab A Khattab, Lamees A Samy
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引用次数: 0

摘要

据记载,蛋白酪氨酸磷酸酶非受体2型(PTPN2)基因的单核苷酸多态性(SNPs)与包括白塞氏病(BD)在内的多种自身免疫性疾病有关。研究人员使用实时 PCR 技术对 96 名白塞氏病患者和 50 名年龄与性别匹配的对照者的 PTPN2 SNPs rs2542151 和 rs7234029 进行了评估。根据疾病表型和严重程度将患者分为不同组别。94.8%的患者为男性。患者的平均发病年龄为 26.1 ± 8 岁。病程中位数(IQR)为 8.5(4-13)年。在两个 SNP 的不同基因型、模型和等位基因的频率方面,患者和对照组之间没有发现差异。此外,疾病表型和严重程度均与 rs2542151 或 rs7234029 SNPs 无关。在埃及患者中,PTPN2 rs2542151和rs7234029 SNPs似乎与BD的发生、表型或严重程度无关。要点 - 在埃及患者中,PTPN2 rs2542151 和 rs7234029 SNPs 似乎与 BD 的发生、表型或严重程度无关。- 建议进一步开展样本量更大、临床多样性不同的研究,以验证研究结果。
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Protein tyrosine phosphatase non-receptor type 2 (PTPN2) gene polymorphisms (rs2542151, rs7234029) in Egyptian Behçet's disease patients: a preliminary report.

Single nucleotide polymorphisms (SNPs) of the protein tyrosine phosphatase non-receptor type 2 (PTPN2) gene have been documented to be linked with several autoimmune disorders including Behçet's disease (BD). PTPN2 SNPs rs2542151 and rs7234029 have been assessed using real-time PCR in 96 BD patients and 50 controls matched by age and gender. Patients were categorized into groups according to the disease phenotypes and severity. A total of 94.8% of patients were males. The patients' mean age at onset was 26.1 ± 8 years. The median (IQR) disease duration was 8.5(4-13) years. No difference was observed between the patients and controls concerning the frequency of the two SNPs' different genotypes, models, and alleles. Moreover, neither disease phenotypes nor severity were associated with rs2542151 or rs7234029 SNPs. PTPN2 rs2542151 and rs7234029 SNPs do not seem to have associations with BD occurrence, phenotypes, or severity in the Egyptian patients. Key Points • PTPN2 rs2542151 and rs7234029 SNPs do not seem to have associations with BD occurrence, phenotypes, or severity in the Egyptian patients. • Further studies involving a larger sample size with variable clinical diversity are recommended to verify the results.

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来源期刊
Clinical Rheumatology
Clinical Rheumatology 医学-风湿病学
CiteScore
6.90
自引率
2.90%
发文量
441
审稿时长
3 months
期刊介绍: Clinical Rheumatology is an international English-language journal devoted to publishing original clinical investigation and research in the general field of rheumatology with accent on clinical aspects at postgraduate level. The journal succeeds Acta Rheumatologica Belgica, originally founded in 1945 as the official journal of the Belgian Rheumatology Society. Clinical Rheumatology aims to cover all modern trends in clinical and experimental research as well as the management and evaluation of diagnostic and treatment procedures connected with the inflammatory, immunologic, metabolic, genetic and degenerative soft and hard connective tissue diseases.
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