• 作者：A. Messadi^a ; ^{amiramessadi@gmail.com} ; N. Fekih-Mrissa^a ; J. Zaouali^b ; S. Layouni^a ; B. Nsiri^a ; M. Yedeas^c ; A. Raies^d ; R. Mrissa^b ; N. Gritli^a
• 关键词：Scl&eacute ; rose en plaques ; Forme r&eacute ; mittente ; PAFR A224D ; Polymorphisme de longueur des fragments de restriction ; &Eacute ; tude cas&ndash ; t&eacute ; moins
• 刊名：Pathologie Biologie
• 出版年：2012
• 期刊代码：216_03698114
• 类别：med
• 出版时间：June, 2012
• 卷：60
• 期：3
• 页码：185-189
• 文件大小：265 K

Aim of the study

Platelet-activating factor interacts with its specific receptor and mediates leucocytes transmigration into central nervous system and expression of HLA molecules on antigens-presenting cells. These features are the major characteristics of multiple sclerosis pathology. In the present study, we investigated the role of platelet-activating factor receptor A224 mutation in the susceptibility to relapsing-remitting form of MS in a Tunisian population.

Patients and methods

Forty-seven multiple sclerosis patients and 72 healthy controls were genotyped for platelet-activating factor receptor A224D mutation using polymerase chain reaction-restriction fragment length polymorphism technique.

Results

We used three models of inheritance: the codominant, dominant and recessive models. Our results showed a predisposing effect of platelet-activating factor receptor 224D variant on susceptibility to relapsing-remitting multiple sclerosis (30%vs 48.1%, OR [IC 95%] = 2.04 [1.04-3.99], P = 0.023). Our results were also consistent with a dominant model of inheritance when comparing mild genotype (AA) with carriers of one or two copies of mutant allele (AD + DD) (55.7%vs 31.9%, OR [IC 95%]= 2.92 [1.34-6.81], P = 0.006). No effect of this mutation was shown when considering the age at disease onset, disease severity or gender.

Conclusion

This first study reports an implication of platelet-activating factor receptor A224D mutation in the susceptibility to relapsing-remitting multiple sclerosis in Tunisian population. Further studies will be necessary to confirm the dominant role of PAFR A224D mutation and to elucidate the effect of this mutation on platelet-activating factor/platelet-activating factor receptor pathways.