Küçükşahin Orhan, Şeker Zeynep, Şahin Ali, Kinikli Gülay, Tuncali Timur, Turgay Murat, Okoh Alexis K, Külahçioğlu Emre, Erten Şükran, Ateş Aşkın
Department of Internal Medicine, Division of Rheumatology, Medical Faculty of Ankara University, Ankara, Turkey.
Department of Internal Medicine, Medical Faculty of Ankara University, Ankara, Turkey.
Arch Rheumatol. 2016 Apr 13;31(2):107-111. doi: 10.5606/ArchRheumatol.2016.5788. eCollection 2016 Jun.
This study aims to investigate whether the protein tyrosine phosphatase non-receptor type 22 (PTPN22) C1858T gene polymorphism plays a role in the pathogenesis of familial Mediterranean fever (FMF) through T-lymphocyte activation.
We conducted a case-control study with 180 FMF patients (68 males, 112 females; mean age 38.2±1.6 years; range 16 to 81 years) and 184 healthy controls (86 males, 98 females; mean age 32.9±9.2 years; range 18 to 58 years). The PTPN22 C1858T polymorphism (rs2476601) was genotyped by polymerase chain reaction restriction fragment length polymorphism. In patients with FMF, clinical features, disease severity score, the frequencies of amyloidosis, positive family history, and Mediterranean fever gene mutations were determined.
The frequencies of heterozygous genotype (CT) were 4.5% in FMF patients and 2.8% in healthy controls, respectively. The frequencies of polymorphic homozygous genotypes (TT) were 0.5% in both FMF patients and healthy controls. There were no statistically significant differences in the frequencies of CT and TT genotypes between FMF patients and healthy controls (odds ratio: 1.65, 95% confidence interval: 0.53-5.14, p>0.05 for CT genotype). The frequencies of clinical features, sex, amyloidosis, positive family history, Mediterranean fever gene mutations, and disease severity score were not significantly different between the patients.
The distribution of PTPN22 C1858T polymorphism did not reveal any association with FMF in a Turkish population.
本研究旨在探讨蛋白酪氨酸磷酸酶非受体22型（PTPN22）C1858T基因多态性是否通过T淋巴细胞激活在家族性地中海热（FMF）的发病机制中发挥作用。
我们进行了一项病例对照研究，纳入180例FMF患者（男性68例，女性112例；平均年龄38.2±1.6岁；范围16至81岁）和184例健康对照者（男性86例，女性98例；平均年龄32.9±9.2岁；范围18至58岁）。采用聚合酶链反应-限制性片段长度多态性方法对PTPN22 C1858T多态性（rs2476601）进行基因分型。在FMF患者中，确定临床特征、疾病严重程度评分、淀粉样变性频率、阳性家族史和地中海热基因突变情况。
杂合基因型（CT）在FMF患者中的频率分别为4.5%，在健康对照者中为2.8%。多态性纯合基因型（TT）在FMF患者和健康对照者中的频率均为0.5%。FMF患者和健康对照者之间CT和TT基因型频率无统计学显著差异（优势比：1.65，95%置信区间：0.53 - 5.14，CT基因型p>0.05）。患者之间的临床特征、性别、淀粉样变性、阳性家族史、地中海热基因突变和疾病严重程度评分频率无显著差异。
在土耳其人群中，PTPN22 C1858T多态性的分布与FMF未显示出任何关联。
