CD45 and multiple sclerosis: The exon 4 C77G polymorphism (additional studies and meta-analysis) and new markers

Macarena Gomez-Lira, Maria Liguori, Corrado Magnani, Deborah Bonamini, Alessandro Salviati, Maurizio Leone, Virginia Andreoli, Maria Trojano, Paola Valentino, Giovanni Savettieri, Aldo Quattrone, Pier Franco Pignatti, Patricia Momigliano-Richiardi, Mara Giordano

Risultato della ricerca: Contributo su rivistaArticolo in rivistapeer review

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.

Lingua originaleInglese
pagine (da-a)216-221
Numero di pagine6
RivistaJournal of Neuroimmunology
Volume140
Numero di pubblicazione1-2
DOI
Stato di pubblicazionePubblicato - lug 2003

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