CD45 and multiple sclerosis: the exon 4 C77G polymorphism (additional studies and meta-analysis) and new markers.
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.
Gomez-Lira
Macarena
M
Dipartimento Materno Infantile e di Biologia-Genetica, Sezione di Biologia e Genetica, Università di Verona, Verona, Italy.
Liguori
Maria
M
Magnani
Corrado
C
Bonamini
Deborah
D
Salviati
Alessandro
A
Leone
Maurizio
M
Andreoli
Virginia
V
Trojano
Maria
M
Valentino
Paola
P
Savettieri
Giovanni
G
Quattrone
Aldo
A
Pignatti
Pier Franco
PF
Momigliano-Richiardi
Patricia
P
Giordano
Mara
M
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*
D005819:Genetic Markers; D006147:Guanine; D003596:Cytosine; D017493:Leukocyte Common Antigens