0000000000147542

AUTHOR

Patricia Momigliano-richiardi

showing 3 related works from this author

Corrigendum to “Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in Europeans” [J. Neuroim…

2007

GeneticsLinkage disequilibriumJAG1Multiple sclerosisImmunologySusceptibility geneBiologymedicine.disease03 medical and health sciences0302 clinical medicineNeurologymedicineImmunology and AllergyNeurology (clinical)030215 immunologyJournal of Neuroimmunology
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A whole genome screen for linkage disequilibrium in multiple sclerosis performed in a continental Italian population

2003

We have systematically screened the genome for evidence of linkage disequilibrium (LD) with multiple sclerosis (MS) by typing 6000 microsatellite markers in case-control and family based (AFBAC) cohorts from the Italian population. DNA pooling was used to reduce the genotyping effort involved. Four DNA pools were considered: cases (224 Italian MS patients), controls (231 healthy Italians), index (185 index cases from trio families) and parents (the 370 parents of the patient included in the Index pool), respectively. After refining analysis of the most promising 14 markers to emerge from this screening process, only marker D2S367 retained evidence for association. © 2003 Elsevier B.V. All r…

MaleLinkage disequilibriumMultiple SclerosisGenotypeInternational CooperationImmunologyBiologyGenomeLinkage DisequilibriumWhole genome linkage disequilibriumGene FrequencyGenotypemedicineHumansImmunology and AllergyGenetic Predisposition to DiseaseMultiple sclerosiGenetic TestingGenotypingAllele frequencyAllelesGenetic testingGeneticsmedicine.diagnostic_testGenome HumanRacial GroupsDNA poolMicrosatelliteSettore BIO/18 - GeneticaItalyNeurologyCase-Control StudiesMicrosatelliteHuman genomeFemaleSettore MED/26 - NeurologiaNeurology (clinical)Microsatellite Repeats
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CD45 and multiple sclerosis: the exon 4 C77G polymorphism (additional studies and meta-analysis) and new markers

2003

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 (Ile187…

Genetic MarkersMaleGuanineMultiple SclerosisGenotypeImmunologyBiologyCytosineExonGene FrequencymedicineHumansImmunology and AllergyGeneAllelesGeneticsPolymorphism GeneticMultiple sclerosisGenetic VariationExonsOdds ratiomedicine.diseaseMolecular biologyAlternative SplicingNeurologyMeta-analysisRNA splicingLeukocyte Common AntigensFemaleNeurology (clinical)Journal of Neuroimmunology
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