HLA-DQB1*0602 homozygosity increases relative risk for narcolepsy but not disease severity in two ethnic groups

Pelin Z., Guilleminault C., Risch N., Grumet F., Mignot E.

TISSUE ANTIGENS, vol.51, no.1, pp.96-100, 1998 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 51 Issue: 1
  • Publication Date: 1998
  • Doi Number: 10.1111/j.1399-0039.1998.tb02952.x
  • Journal Name: TISSUE ANTIGENS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.96-100
  • Istanbul University Affiliated: No

Abstract

Narcolepsy is a neurological disorder known to be tightly associated with HLA-DQA1*0102 and DQB1*0602. In this study, we have examined if homozygosity for DQB1*0602 increases disease susceptibility and/or severity. Patients diagnosed at Stanford University (n = 160) or enrolled in a multicenter clinical trial (n = 509) were included in this analysis. In both African-Americans and Caucasian-Americans with or without cataplexy, a significantly higher than expected number of subjects were DQB1*0602 homozygotes. Relative risks were 2-4 times higher in DQB1*0602 homozygotes vs heterozygotes across all patient groups. In contrast, symptom severity did not differ between DQB1*0602 homozygous and heterozygous subjects. These results indicate that HLA-DQB1*0602 homozygosity increases susceptibility to narcolepsy but does not appear to influence disease severity.