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

被引：0
作者：
Kriegshauser, Gernot [1 ]
Hayrapetyan, Hasmik [1 ,2 ]
Oberkanins, Christian [3 ]
Sarkisian, Tamara [1 ,2 ]
机构：
[1] Yerevan State Med Univ, Dept Med Genet, Koryun 2, Yerevan 0025, Armenia
[2] Ctr Med Genet & Primary Hlth Care, Yerevan, Armenia
[3] ViennaLab Diagnost, Vienna, Austria
来源：
RHEUMATOLOGY INTERNATIONAL | 2024年 / 44卷 / 11期
关键词：
Familial Mediterranean fever; Armenia; Plasminogen activator inhibitor 1; Genetic; Polymorphism; PLASMINOGEN-ACTIVATOR INHIBITOR-1; PAI-1; GENE; MYOCARDIAL-INFARCTION; POLYMORPHISM; RISK; ALLELES; STROKE;
D O I：
10.1007/s00296-024-05653-x
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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.
引用
收藏
页码：2555 / 2559
页数：5
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