干扰素-γ +874A/T多态性与免疫性血小板减少症发病机制及治疗反应的相关性
Involvement of Interferon-γ + 874A/T Polymorphism in the Pathogenesis of and Therapeutic Response to Immune Thrombocytopenia.
作者信息
Rezaeeyan Hadi, Jaseb Kaveh, Kaydani Gholam Abas, Asnafi Ali Amin, Masbi Mohammad Hosein, Saki Najmaldin
机构信息
Research Center of Thalassemia and Hemoglobinopathy, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
出版信息
Lab Med. 2019 Jul 16;50(3):e42-e49. doi: 10.1093/labmed/lmz010.
BACKGROUND
Immune thrombocytopenia (ITP) is an autoimmune disease characterized by symptoms of thrombocytopenia and bleeding due to production of autoantibodies against platelets. Recently, the occurrence of polymorphisms has been identified as one of the main causes of disease onset.
METHODS
To conduct this study, we recruited 140 patients and control individuals with no history of platelet loss. After collection of specimens, the prevalence of interferon-γ polymorphism was evaluated using the allele-specific oligonucleotide-polymerase chain reaction (ASO-PCR) technique and confirmed by sequencing techniques.
RESULTS
The results showed that the frequency of the AA genotype was higher in the control group, compared with patients with ITP; however, in the acute and chronic groups, the frequency of the AT genotype was higher than that of the AA genotype. We also discovered that there was no significant correlation between platelet counts before and after treatment, nor in its related parameters with interferon (IFN)-γ polymorphism.
CONCLUSION
rs2430561 does not seem to have any role in ITP pathogenesis and treatment response.
背景
免疫性血小板减少症（ITP）是一种自身免疫性疾病，其特征为血小板减少和因产生抗血小板自身抗体而导致出血的症状。最近，多态性的出现已被确定为疾病发病的主要原因之一。
方法
为开展本研究，我们招募了140名患者和无血小板丢失病史的对照个体。采集标本后，使用等位基因特异性寡核苷酸聚合酶链反应（ASO-PCR）技术评估干扰素-γ多态性的患病率，并通过测序技术进行确认。
结果
结果显示，与ITP患者相比，对照组中AA基因型的频率更高；然而，在急性和慢性组中，AT基因型的频率高于AA基因型。我们还发现，治疗前后的血小板计数之间及其与干扰素（IFN）-γ多态性的相关参数之间均无显著相关性。
结论
rs2430561似乎在ITP发病机制和治疗反应中不起任何作用。
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