title: Is neuromyelitis optica associated with human leukocyte antigen?
abstract: BACKGROUND
  To establish whether or not multiple sclerosis (MS) and neuromyelitis optica (NMO) are different pathological entities, we wondered whether MS patients and NMO patients share the same pattern of human leukocyte antigen (HLA) predisposition.
  
  
  OBJECTIVE
  To study a putative association between susceptibility to NMO and HLA class I or class II loci in Caucasians.
  
  
  METHODS
  A total of 39 unrelated Caucasian patients with NMO and six patients at a high risk of converting to NMO were studied. DNA genotyping of HLA class I and class II loci was assessed and allelic frequencies were reported at a high-resolution level. A case-control study by comparing the allelic distribution in the NMO patients with that of a French Caucasian MS group and a French Caucasian healthy group was carried out.
  
  
  RESULTS
  The frequencies of HLA-DQA1, DQB1, and HLA-DRB1 DR2 alleles in the NMO group were intermediate between the healthy control group and the MS group. The DPB1*0501 allele was not increased in the NMO group compared with the healthy control group. The distribution of HLA-DRB1 allele enabled to distinguish between NMO-IgG-positive patients and healthy controls (P = 0.01). NMO-IgG-negative patients presented an HLA II pattern closer to that of the MS group (P = 0.01).
  
  
  CONCLUSIONS
  In contrast to the reported results in Asian opticospinal MS, we found no association between the DPB1*0501 allele and NMO in our Caucasian patients. Moreover, we suggest that NMO-IgG-positive patients could represent a distinct NMO group in terms of their genetic susceptibility.
authors.affiliation: Pôle Neurologique, Hôpital Roger Salengro, CHRU de Lille, 59037 Lille, France. h-zephir@chru-lille.fr
authors.forename: H
authors.initials: H
authors.lastname: Zéphir
authors.forename: I
authors.initials: I
authors.lastname: Fajardy
authors.forename: O
authors.initials: O
authors.lastname: Outteryck
authors.forename: F
authors.initials: F
authors.lastname: Blanc
authors.forename: N
authors.initials: N
authors.lastname: Roger
authors.forename: M
authors.initials: M
authors.lastname: Fleury
authors.forename: G
authors.initials: G
authors.lastname: Rudolf
authors.forename: R
authors.initials: R
authors.lastname: Marignier
authors.forename: S
authors.initials: S
authors.lastname: Vukusic
authors.forename: C
authors.initials: C
authors.lastname: Confavreux
authors.forename: P
authors.initials: P
authors.lastname: Vermersch
authors.forename: J
authors.initials: J
authors.lastname: de Seze
mesh_terms: D016022:Case-Control Studies; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006682:HLA-DP Antigens / Q000235:genetics*; D059868:HLA-DP beta-Chains; D006683:HLA-DQ Antigens / Q000235:genetics*; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; D006684:HLA-DR Antigens / Q000235:genetics*; D059811:HLA-DRB1 Chains; D006650:Histocompatibility Testing; D006801:Humans; D009103:Multiple Sclerosis / Q000208:ethnology / Q000235:genetics* / Q000276:immunology; D009471:Neuromyelitis Optica / Q000208:ethnology / Q000235:genetics* / Q000276:immunology; D044465:White People / Q000235:genetics
chemical_list: D006682:HLA-DP Antigens; D059868:HLA-DP beta-Chains; C538744:HLA-DPB1*05:01 antigen; D006683:HLA-DQ Antigens; D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; C069050:HLA-DQA1 antigen; C069051:HLA-DQB1 antigen; D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains