PMID- 18517045 OWN - NLM STAT- MEDLINE DCOM- 20080717 LR - 20211020 IS - 0161-8105 (Print) IS - 1550-9109 (Electronic) IS - 0161-8105 (Linking) VI - 31 IP - 5 DP - 2008 May TI - MX2 gene expression tends to be downregulated in subjects with HLA-DQB1*0602. PG - 749-51 AB - OBJECTIVE: There is a close association between narcolepsy and the human leukocyte antigen (HLA)-DQB1*0602. The detailed influence and function of this specific HLA allele with regard to narcolepsy have not yet been elucidated. Our previous report identified the myxovirus resistance 2 (MX2) gene as a narcolepsy-specific dysregulated gene; however, the report had a limitation-the control groups were not HLA matched. In this study, we examined the possibility of an association between MX2 expression and HLA haplotypes. DESIGNS: The expression levels of the MX2 gene in 3 groups (24 narcolepsy with cataplexy patients; 24 age-, sex-, and HLA-DQB1 genotype-matched controls; and 24 age- and sex-matched controls without the HLA-DQB1*0602 allele) were measured by quantitative real-time RT-PCR. RESULTS: The expression level of the MX2 gene tended to be downregulated in subjects carrying HLA-DQB1*0602, compared with that of the control subjects without this allele. There was no difference in the MX2 expression level between the narcolepsy subjects and the HLA-DQB1 genotype-matched control subjects. CONCLUSION: Our previous finding-the narcolepsy-specific reduction of MX2 gene expression-was not replicated in this follow-up study. The expression level of the MX2 gene in white blood cells was found to be lower in subjects with the HLA-DQB1*0602 than in subjects without this allele, suggesting that there exists a relationship between the HLA-DQB1*0602 allele and MX2 gene expression. This might be a possible explanation for the strong HLA association observed in narcolepsy. FAU - Tanaka, Susumu AU - Tanaka S AD - Sleep Disorders Project, Department of Sleep Disorders Research, Tokyo Institute of Psychiatry, Setagaya-ku, Tokyo, Japan. FAU - Honda, Yutaka AU - Honda Y FAU - Honda, Makoto AU - Honda M LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Sleep JT - Sleep JID - 7809084 RN - 0 (HLA-DQ Antigens) RN - 0 (HLA-DQ beta-Chains) RN - 0 (HLA-DQB1 antigen) RN - 0 (Membrane Glycoproteins) RN - 0 (Myxovirus Resistance Proteins) RN - EC 3.6.1.- (GTP-Binding Proteins) SB - IM MH - Adult MH - Alleles MH - Cataplexy/*genetics MH - Down-Regulation/*genetics MH - Female MH - GTP-Binding Proteins/*genetics MH - Genetic Carrier Screening MH - *Genotype MH - HLA-DQ Antigens/*genetics MH - HLA-DQ beta-Chains MH - Haplotypes MH - Humans MH - Male MH - Membrane Glycoproteins/*genetics MH - Myxovirus Resistance Proteins MH - Narcolepsy/*genetics MH - Reproducibility of Results MH - Reverse Transcriptase Polymerase Chain Reaction PMC - PMC2398745 EDAT- 2008/06/04 09:00 MHDA- 2008/07/18 09:00 PMCR- 2008/11/01 CRDT- 2008/06/04 09:00 PHST- 2008/06/04 09:00 [pubmed] PHST- 2008/07/18 09:00 [medline] PHST- 2008/06/04 09:00 [entrez] PHST- 2008/11/01 00:00 [pmc-release] AID - 10.1093/sleep/31.5.749 [doi] PST - ppublish SO - Sleep. 2008 May;31(5):749-51. doi: 10.1093/sleep/31.5.749.