title: [Implication of platelet-activating factor receptor A224D mutation in susceptibility to relapsing-remitting multiple sclerosis: A Tunisian population study].
abstract: OBJECTIVE
  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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Laboratoire de biologie moléculaire, service d'hématologie, hôpital militaire de Tunis, Tunis, Tunisie. amiramessadi@gmail.com
authors.forename: A
authors.initials: A
authors.lastname: Messadi
authors.forename: N
authors.initials: N
authors.lastname: Fekih-Mrissa
authors.forename: J
authors.initials: J
authors.lastname: Zaouali
authors.forename: S
authors.initials: S
authors.lastname: Layouni
authors.forename: B
authors.initials: B
authors.lastname: Nsiri
authors.forename: M
authors.initials: M
authors.lastname: Yedeas
authors.forename: A
authors.initials: A
authors.lastname: Raies
authors.forename: R
authors.initials: R
authors.lastname: Mrissa
authors.forename: N
authors.initials: N
authors.lastname: Gritli
mesh_terms: D000328:Adult; D000409:Alanine / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics; D001224:Aspartic Acid / Q000235:genetics; D018450:Disease Progression; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population; D006801:Humans; D008297:Male; D020529:Multiple Sclerosis, Relapsing-Remitting / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D020125:Mutation, Missense / Q000502:physiology; D010980:Platelet Membrane Glycoproteins / Q000235:genetics*; D043562:Receptors, G-Protein-Coupled / Q000235:genetics*; D012720:Severity of Illness Index; D014416:Tunisia / Q000453:epidemiology; D055815:Young Adult
chemical_list: D010980:Platelet Membrane Glycoproteins; D043562:Receptors, G-Protein-Coupled; C039351:platelet activating factor receptor; D001224:Aspartic Acid; D000409:Alanine