Citations 2
Association of IL2RA p olymorphisms with susceptibility to multiple sclerosis is not explained by missense mutations in IL2RA
Matiello, Marcelo , Weinshenker, Brian G. , Atkinson, Elizabeth J. , Schaefer-Klein, Janet, Kantarci, Orhun H. , Weinshenker, Brian G
Multiple Sclerosis Journal | January 14, 2011 | Volume: 17 | Issue: 5 | Pages: 634-636
Genome-wide association studies have identified an association between two intronic single nucleotide polymorphisms (SNPs), rs12722489 and rs2104286, in the interleukin-2 receptor alpha-chain gene ( IL2RA) and susceptibility to multiple sclerosis (MS). We studied these SNPs in association with susceptibility to and severity of MS in a population-based cohort of 220 patients from Olmsted County, Minnesota, compared with 442 matched controls. We sequenced the exons, splice sites and 5’ and 3’ untranslated regions in 27 randomly selected MS patients (powered for allele frequency ≥0.04) to search for mutations. No novel missense mutation was identified. Two patients (7.5%) had an exon 2 SNP ( rs4308625) and two patients had an exon 4 SNP ( rs2228149), both synonymous.
HLA-DRB association in neuromyelitis optica is different from that observed in multiple sclerosis
Brum, Doralina Guimarães , Barreira, Amilton Antunes , Kaimen-Maciel, Damacio Ramón , Matiello, Marcelo , Deghaide, Neifi Hassan Saloun, Costa, Laudo Silva, Louzada‐Júnior, Paulo , Diniz, Paula Rejane Beserra , Mendes‐Junior, Celso Teixeira , Donadi, Eduardo Antônio , Santos, Antônio Carlos dos , Costa, Roberta Martins da Silva , Comini-Frota, Elizabeth Regina
Multiple Sclerosis Journal | December 7, 2009 | Volume: 16 | Issue: 1 | Pages: 21-29
Until recently, neuromyelitis optica (NMO) was considered to be a sub-type of multiple sclerosis (MS), which has a strong predilection for Caucasian populations, whereas NMO is more frequent in non-Caucasian individuals. The objective of this study was to compare the HLA-DRB profile in Brazilian Mulatto patients with NMO spectrum disorders (NMOSDs) with that observed for Mulatto MS patients and healthy Mulatto controls. Twenty seven NMOSD patients (20 women), all seropositive for NMO-IgG, 29 MS patients and 28 Mulatto healthy blood donors were evaluated for HLA-DRB allele groups. HLA-DRB1*03 allele group was overrepresented in NMO patients compared with healthy controls (p = 0.0401; OR = 3.23, 95%CI: 1.07—9.82). In contrast, the HLA-DRB1*15 allele group was overrepresented in Brazilian MS patients (OR = 15.89, 95%CI: 3.51—71.85; p < 0.0001). DRB3 was overrepresented in NMO (p = 0.0064), and DRB5 overrepresented in MS patients (p = 0.0001). The low frequency of HLA-DRB1*15 alleles was associated with the presence of long and central cord lesions at magnetic resonance. In addition, DRB1*15 alleles were associated with the fulfillment of the Barkhof criteria. In conclusion, these results indicate that the DRB profile of NMO patients is different from that observed for MS patients, further corroborating the distinction between NMO and MS.