Narcolepsy 6, 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

Kornum et al. (2011) reported genomewide association analyses for narcolepsy with replication and fine mapping across 3 ethnic groups (3,406 individuals of European ancestry, 2,414 Asians, and 302 African Americans) and identified a single-nucleotide polymorphism (SNP) in a 3-prime untranslated region of the purinergic receptor subtype P2Y11 gene (P2RY11) on chromosome 19p13.2 associated with narcolepsy (rs2305795, combined p = 6.1 x 10(-10), OR = 1.28, 95% CI 1.19-1.39, n = 5689). The disease-associated allele was correlated with reduced expression of P2RY11 in CD8+ T lymphocytes (339% reduced, p = 0.003) and natural killer cells (P = 0.031), but not in other peripheral blood mononuclear cell types. The low-expression variant was also associated with reduced P2RY11-mediated resistance to ATP-induced cell death in T lymphocytes (p = 0.0007) and natural killer cells (P = 0.001). Kornum et al. (2011) concluded that their results identified P2RY11 as an important regulator of immune cell survival, with possible implications in narcolepsy and other autoimmune diseases.