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Is neuromyelitis optica associated with human leukocyte antigen?

Pôle Neurologique, Hôpital Roger Salengro, CHRU de Lille, 59037 Lille, France

I Fajardy

Centre de Biologie Pathologique, Biochimie, Biologie Moléculaire, 59045 Lille, France

O Outteryck

Pôle Neurologique, Hôpital Roger Salengro, CHRU de Lille, 59037 Lille, France

F Blanc

Clinique Neurologique, Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg, France

N Roger

Centre de Biologie Pathologique, Biochimie, Biologie Moléculaire, 59045 Lille, France

M Fleury

Clinique Neurologique, Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg, France

G Rudolf

Clinique Neurologique, Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg, France

R Marignier

Hôpital Neurologique Pierre Weirtheimer, Lyon, France; U842 INSERM Faculté Laënnec 69372 Lyon Cedex

S Vukusic

Hôpital Neurologique Pierre Weirtheimer, Lyon, France

C Confavreux

Hôpital Neurologique Pierre Weirtheimer, Lyon, France

P Vermersch

Pôle Neurologique, Hôpital Roger Salengro, CHRU de Lille, 59037 Lille, France

J de Seze

Clinique Neurologique, Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg, France

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).

Conclusion

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.

Key Words: alleles • genetics • HLA • multiple sclerosis • neuromyelitis optica

This version was published on May 1, 2009

Multiple Sclerosis, Vol. 15, No. 5, 571-579 (2009)
DOI: 10.1177/1352458508102085


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