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蛋白酪氨酸磷酸酶非受体型 2(PTPN2)基因多态性(rs2542151,rs7234029)在埃及白塞病患者中的初步研究。

Protein tyrosine phosphatase non-receptor type 2 (PTPN2) gene polymorphisms (rs2542151, rs7234029) in Egyptian Behçet's disease patients: a preliminary report.

机构信息

Rheumatology and Rehabilitation Department, Faculty of Medicine, Cairo University Hospitals, Saray El Manial Street, El Manial, Cairo, 11956, Egypt.

Medical Biochemistry and Molecular Biology Department, Faculty of Medicine, Cairo University, Saray El Manial Street, El Manial, Cairo, 11956, Egypt.

出版信息

Clin Rheumatol. 2024 Nov;43(11):3439-3448. doi: 10.1007/s10067-024-07128-7. Epub 2024 Sep 25.

Abstract

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.

摘要

蛋白质酪氨酸磷酸酶非受体型 2(PTPN2)基因的单核苷酸多态性(SNPs)已被证明与多种自身免疫性疾病有关,包括贝赫切特病(BD)。使用实时 PCR 检测了 96 例 BD 患者和 50 名年龄和性别匹配的对照者中 PTPN2 SNPs rs2542151 和 rs7234029 的情况。根据疾病表型和严重程度将患者分为不同的组。94.8%的患者为男性。患者发病的平均年龄为 26.1±8 岁。疾病的中位数(IQR)持续时间为 8.5(4-13)年。在两种 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差异。此外,两种 SNP 均与疾病表型或严重程度无关。PTPN2 rs2542151 和 rs7234029 SNPs 似乎与埃及患者的 BD 发生、表型或严重程度无关。关键点:• PTPN2 rs2542151 和 rs7234029 SNPs 似乎与埃及患者的 BD 发生、表型或严重程度无关。• 建议开展涉及更大样本量和不同临床多样性的进一步研究以验证结果。

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