Narcolepsy 4, Susceptibility To

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

HLA-DQB1, HCRT, HLA-DRB1, MOG, HCRTR2, P2RY11, CTSH, ZNF365, CPT1B, CHKB, TRA, EIF3G, TNFSF4, TAC1, TRH, PENK, SOCS2, HLA-DQA1, DNMT1, PPAN, PPAN-P2RY11, CHKB-CPT1B, MAP3K7, NOTCH4, HLA-DQA2, NRXN1, ANO3, TMEM108, TBL1XR1, COLGALT1, ZYG11B, GALNT14, MMP26, MRPL24, JPH1, NUP37, FSTL5, SLC28A3, CA10, LYRM4, ADAMTSL3, TENM2, LRRC7, WDR48, DPP10, LRRN1, VAT1L, LRRC4C, ASIC2, RBFOX1, BTNL2, OXR1, AGTR1, CACNG2, TSBP1, NPFFR2, TCERG1, POLI, KLF12, MRAS, DENND3, ATF6, PALLD, SWAP70, TMEM131L, MTUS2, SRGAP2, DDAH1, KCNE4, TANC2, AK5, PDE7B, BBS9, RBMS3, REM1, NXPH1, NOX4, PHF20, DYNC2LI1, FHOD3, CDKAL1, ZNF385D, SERAC1, CCDC68, LINC00687, ZEB1-AS1, FAM171A1, NT5DC1, SDK1, LINC01619, HS6ST3, SUMF1, IQCM, HLA-F-AS1, NKAIN3, FREM2, RPS10P7, CATSPER4, SHC4, DCDC2C, GLIS3, MAPT-AS1, C9orf92, LINC00861, ATP5MC1P6, HOXD-AS2, SPRY4-AS1, LINC01847, LINC01687, LINC01182, TSBP1-AS1, LINC01500, LINC02336, LINC01839, LINC02511, CEP112, TOGARAM2, CYB5B, ANTXR2, ITCH, ACSS1, PYROXD2, ELMO1, ERI1, ALKBH8, SNX29, SHKBP1, FOXP2, PIK3IP1, TRIM9, CSMD3, TMEM132B, C8orf34, PIK3AP1, MDGA2, AGBL1, HSD3BP4, RBM45, EGFLAM, HINT3, UBXN2B, UNC5D, FAUP1, SUN5, FRMPD2, PLB1, LINC00691, NKAIN2, LINC00964, RAD50, FRY, LINC02248, SFRP1, PSMA5, PSMB9, EPHB1, EDNRA, RIT2, RYR2, DPYD, DPP6, PRCP, DNAH8, SLC18A2, STIM1, TAP1, TAP2, TF, TIAM1, FGF10, PPARA, MCC, GRM5, HLA-F, HLA-DRB9, NFRKB, HLA-DRA, HLA-DQB2, HLA-DOB, GRM8, GRID1, GPC5, GNAO1, GABRG3, FXN, FOLR1, PDE4B, FHIT, SERPINB5, TJP1, ITGA3, DHODH, CTNND2, RNGTT, KALRN, BLMH, BCR, MAGI1, DLGAP2, DLGAP1, NDST3, AKAP6, ATG5, ATP2B2, ASTN1, MICAL2, HDAC9, JAKMIP2, NOL4, DCHS1, BARX2, CTNNA2, SERPING1, H2AC6, SLC14A2, EPM2A, CDK8, CENPC, DAP3, VDR, CILP, VAV2, COL14A1, VAV1, TNF, COMT, HLA-DRB5, HRH3, CCR3, P2RX5-TAX1BP3, ATXN3, P2RY2, P2RY1, P2RX5, P2RX4, TNFRSF1B, P2RX3, P2RX1, TRIB2, P2RX7, P2RX2, P2RX6, LEP, HCRTR1, PSG5, HLA-A, PICSAR, HLA-DPB1, MX2, NFATC2, TAAR1, TNFRSF1A, MIR30C2, SLC6A2, LINC00163, SLC6A3, MIR320A, SKOR1, ZGLP1, MIR130A, MIR30C1, TRAC, CSF3, CRP, TRAJ60, TRAV29DV5, MIR4455, GDNF-AS1, CCR1, SLC17A5, FGF21, CD40LG, SMUG1, CLOCK, ABCG1, SALL4, CIITA, RANGAP1, NAA50, ABCC9, CXCL8, IFNG, IFNA17, IFNA13, IFNA2, IFNA1, IFN1@, HTR2A, MS, FAM3D, CD200R1, HLA-DRB4, HDC, PTPRD, EHMT1, GLP1R, FBXO15, GHRH, GH1, GDNF, GCG, GAD2, MAOA, PRKN, PDYN, POLE, QRFP, CCS

Drugs

Mazindol, Modafinil ( MODAFINIL AZWELL INC, MODIODAL, PROVIGIL ), Pitolisant ( WAKIX )

Mazindol, Modafinil ( MODAFINIL AZWELL INC, MODIODAL, PROVIGIL ), Pitolisant ( WAKIX ), Sodium oxybate ( XYREM ), Solriamfetol ( SUNOSI )

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For a phenotypic description and a discussion of genetic heterogeneity of narcolepsy, see 161400.

Mapping

Miyagawa et al. (2008) conducted a genomewide association study in 222 Japanese individuals with narcolepsy and 389 Japanese controls, with replication of top hits in 159 Japanese individuals with narcolepsy and 190 Japanese controls, followed by the testing of 424 Koreans, 785 individuals of European descent, and 184 African Americans. A T-to-C SNP (rs5770917) located between the CPT1B (601987) and CHKB (612395) genes on chromosome 22q13 was significantly associated with narcolepsy in Japanese (odds ratio (OR) = 1.79, p = 4.4 x 10(-7)). A metaanalysis in the 4 populations yielded an OR of 1.63 (p = 5.9 x 10(-8)). Real-time quantitative PCR assays in white blood cells indicated decreased CPT1B and CHKB expression in individuals with the C allele, suggesting that a genetic variant regulating CPT1B or CHKB expression may be associated with narcolepsy.