Is HLA‐DRW 13 (W6) Associated with Juvenile Myoclonic Epilepsy in Arab Patients?

Abstract

In a study of 32 unrelated Arab patients with juvenile myoclonic epilepsy (JME), we compared the frequencies of human leukocyte antigen (HLA) class I and II alleles with those of unrelated healthy controls. A significant difference between the phenotypic frequencies in JME patients and controls was observed for DRW13, the split of DRW6 (37.5 vs 11% of controls). The strength of association as measured by the relative risk was 4.85 for this antigen (p = 0.002). The possible association of JME with HLA-DRW6 recently reported in Caucasians was confirmed in this study. This finding speaks for the homogeneity of the disease among Arabic and Caucasian JME patients. The existence of this association is evidence of a locus in the HLA region that influences expression of JME.

Family Studies and Human Leukocyte Antigen Class II Typing in Indian Probands with Seizures in Association with Single Small Enhancing Computed Tomography Lesions

“…Juvenile myoclonic epilepsy (JME) was shown to be linked to the BF and HLA loci on human chromosome 6 in two population groups from the United States and Germany (45,46) and with HLA-DRW13 (W6) in Arab patients (47). A study from Norway concluded that there was no clue as to a primary HLA-DQ association with JME (48).…”

Lack of Association Between Juvenile Myoclonic Epilepsy and HLA‐DR13

“…Our study is the fifth to address the question of an HLA association with JME. The first two studies (7,8), by using the microlymphocytotoxicity test that defines HLA superspecificities, reported an association with HLA-DR6. DR6 superspecificity includes >42 alleles (21 DR13 and 21 DR14) and thus gives only an idea of a potential association at the gene level.…”

“…HLA-DR6 superspecificity and JME in a German population, and Obeid et al (8) for some stronger association of HLA-DR13 (DR6 subspecificity) and JME in an Arab population. More recently, Greenberg et al (9) replicated this finding by using the standard DNA-based HLA typing and extended it to a DRB1-DQBI haplotype (DRB1*1301 or "1302 and DQBI"0603 or "0604).…”

Recent Developments in the Quest for Myoclonic Epilepsy Genes

“…The New York group studied HLA-DR and DQ frequencies in 24 JME patients and in 24 non-JME forms of adolescent-onset IGEs and found the frequency of DR13 and DQB1 alleles to be significantly higher in JME patients. In 1994, Obeid et al (68) also noted that DR13 was associated with JME in families from Saudi Arabia, with an odds ratio of 4.5. The HLA association studies by Greenberg et al (52,53) and Obeid et al (68) suggest that a second epilepsy gene may be present in chromosome 6p, lying within the HLA complex, specifically within the DQB1 and BRD2 loci.…”

“…In 1994, Obeid et al (68) also noted that DR13 was associated with JME in families from Saudi Arabia, with an odds ratio of 4.5. The HLA association studies by Greenberg et al (52,53) and Obeid et al (68) suggest that a second epilepsy gene may be present in chromosome 6p, lying within the HLA complex, specifically within the DQB1 and BRD2 loci. In contrast to families from New York City and Saudi Arabia, JME families from Los Angeles, Belize, Mexico, and Germany do not have significant association with HLA alleles.…”