title: CD45 and multiple sclerosis: the exon 4 C77G polymorphism (additional studies and meta-analysis) and new markers.
abstract: We re-evaluated the association with multiple sclerosis (MS) of the C77G splicing regulatory variation in the CD45 gene and screened for new mutations the three alternatively spliced exons (#4, 5 and 6). No association with C77G was detected in two groups of patients (total=448) and controls (total=559) from Northern and Southern Italy. When excluding the first published study indicating a positive association, a meta-analysis of the five further studies conducted to date (including the present one) led to a non-significant combined odds ratio (OR) of 1.11. None of the four newly identified nucleotide substitutions, namely C77T (Pro59Pro) in exon 4, G69C (Asp121His) in exon 5, T127A (Ile187Asn) and A138G (Thr191Ala) in exon 6, was significantly associated to MS.
authors.affiliation: Dipartimento Materno Infantile e di Biologia-Genetica, Sezione di Biologia e Genetica, Università di Verona, Verona, Italy.
authors.forename: Macarena
authors.initials: M
authors.lastname: Gomez-Lira
authors.forename: Maria
authors.initials: M
authors.lastname: Liguori
authors.forename: Corrado
authors.initials: C
authors.lastname: Magnani
authors.forename: Deborah
authors.initials: D
authors.lastname: Bonamini
authors.forename: Alessandro
authors.initials: A
authors.lastname: Salviati
authors.forename: Maurizio
authors.initials: M
authors.lastname: Leone
authors.forename: Virginia
authors.initials: V
authors.lastname: Andreoli
authors.forename: Maria
authors.initials: M
authors.lastname: Trojano
authors.forename: Paola
authors.initials: P
authors.lastname: Valentino
authors.forename: Giovanni
authors.initials: G
authors.lastname: Savettieri
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
authors.forename: Pier Franco
authors.initials: PF
authors.lastname: Pignatti
authors.forename: Patricia
authors.initials: P
authors.lastname: Momigliano-Richiardi
authors.forename: Mara
authors.initials: M
authors.lastname: Giordano
mesh_terms: D000483:Alleles; D017398:Alternative Splicing / Q000276:immunology; D003596:Cytosine; D005091:Exons; D005260:Female; D005787:Gene Frequency / Q000276:immunology; D005819:Genetic Markers / Q000276:immunology*; D014644:Genetic Variation / Q000276:immunology; D005838:Genotype; D006147:Guanine; D006801:Humans; D017493:Leukocyte Common Antigens / Q000235:genetics*; D008297:Male; D009103:Multiple Sclerosis / Q000235:genetics* / Q000276:immunology*; D011110:Polymorphism, Genetic / Q000276:immunology*
chemical_list: D005819:Genetic Markers; D006147:Guanine; D003596:Cytosine; D017493:Leukocyte Common Antigens