6533b826fe1ef96bd1284846
RESEARCH PRODUCT
CD45 and multiple sclerosis: the exon 4 C77G polymorphism (additional studies and meta-analysis) and new markers
Deborah BonaminiPaola ValentinoVirginia AndreoliPatricia Momigliano-richiardiMaurizio LeoneAlessandro SalviatiMara GiordanoMaria LiguoriCorrado MagnaniPier Franco PignattiMacarena Gomez-liraGiovanni SavettieriAldo QuattroneMaria Trojanosubject
Genetic MarkersMaleGuanineMultiple SclerosisGenotypeImmunologyBiologyCytosineExonGene FrequencymedicineHumansImmunology and AllergyGeneAllelesGeneticsPolymorphism GeneticMultiple sclerosisGenetic VariationExonsOdds ratiomedicine.diseaseMolecular biologyAlternative SplicingNeurologyMeta-analysisRNA splicingLeukocyte Common AntigensFemaleNeurology (clinical)description
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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2003-07-01 | Journal of Neuroimmunology |