Plasminogen activator inhibitor-1 genotype 4G/5G associates with skin involvement in Armenian familial Mediterranean fever patients.

IF 3.2 3区医学 Q2 RHEUMATOLOGY

Rheumatology International Pub Date : 2024-11-01 Epub Date: 2024-07-08 DOI:10.1007/s00296-024-05653-x

Gernot Kriegshäuser, Hasmik Hayrapetyan, Christian Oberkanins, Tamara Sarkisian

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引用次数: 0

Abstract

There is little and conflicting data on the role of the plasminogen activator inhibitor-1 (PAI-1, SERPINE1) 4G/5G polymorphism in familial Mediterranean fever (FMF). Therefore this study aimed at evaluating the impact of this polymorphism on the disease course in a cohort of 303 Armenian FMF patients. Genotyping for 12 Mediterranean fever (MEFV) gene mutations and the PAI-1 4G/5G (rs1799762) polymorphism were performed by PCR/reverse-hybridization (StripAssay) and real-time PCR, respectively. PAI-1 genotypes 4G/4G, 4G/5G, and 5G/5G could be identified in 4 (5.88%), 30 (18.63%) and 9 (12.16%) patients with erysipelas-like erythema (ELE), while this was the case for 64 (94.12%), 131 (81.37%), and 65 (87.84%) patients without ELE, respectively (P < 0.033). We have identified a significant relationship between the PAI-1 4G/5G genotype and the occurence of ELE in a relatively large cohort of Armenian FMF patients. Because of conflicting results concerning the impact of this polymorphism on the clinical course of FMF in different populations, further studies are desirable to substantiate the findings reported here.

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血浆蛋白酶原激活剂抑制剂-1 基因型 4G/5G 与亚美尼亚家族性地中海热患者皮肤受累有关。

关于纤溶酶原激活物抑制剂-1（PAI-1，SERPINE1）4G/5G 多态性在家族性地中海热（FMF）中的作用的数据很少，而且相互矛盾。因此，本研究旨在评估该多态性对 303 名亚美尼亚 FMF 患者病程的影响。通过 PCR/反向杂交（StripAssay）和实时 PCR，分别对 12 个地中海热（MEFV）基因突变和 PAI-1 4G/5G (rs1799762) 多态性进行了基因分型。4（5.88%）、30（18.63%）和 9（12.16%）名红斑狼疮样红斑（ELE）患者的 PAI-1 基因型分别为 4G/4G、4G/5G 和 5G/5G，而 64（94.12%）、131（81.37%）和 65（87.84%）名无红斑狼疮样红斑（ELE）患者的 PAI-1 基因型分别为 4G/4G、4G/5G 和 5G/5G（P＜0.05）。

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来源期刊

Rheumatology International 医学-风湿病学

CiteScore

7.30

自引率

5.00%

发文量

191

审稿时长

16. months

期刊介绍： RHEUMATOLOGY INTERNATIONAL is an independent journal reflecting world-wide progress in the research, diagnosis and treatment of the various rheumatic diseases. It is designed to serve researchers and clinicians in the field of rheumatology. RHEUMATOLOGY INTERNATIONAL will cover all modern trends in clinical research as well as in the management of rheumatic diseases. Special emphasis will be given to public health issues related to rheumatic diseases, applying rheumatology research to clinical practice, epidemiology of rheumatic diseases, diagnostic tests for rheumatic diseases, patient reported outcomes (PROs) in rheumatology and evidence on education of rheumatology. Contributions to these topics will appear in the form of original publications, short communications, editorials, and reviews. "Letters to the editor" will be welcome as an enhancement to discussion. Basic science research, including in vitro or animal studies, is discouraged to submit, as we will only review studies on humans with an epidemological or clinical perspective. Case reports without a proper review of the literatura (Case-based Reviews) will not be published. Every effort will be made to ensure speed of publication while maintaining a high standard of contents and production. Manuscripts submitted for publication must contain a statement to the effect that all human studies have been reviewed by the appropriate ethics committee and have therefore been performed in accordance with the ethical standards laid down in an appropriate version of the 1964 Declaration of Helsinki. It should also be stated clearly in the text that all persons gave their informed consent prior to their inclusion in the study. Details that might disclose the identity of the subjects under study should be omitted.