Major Affective Disorder 7

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Retrieved

2019-09-22

Source

OMIM

Trials

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Genes

XBP1, COMT, SLC25A4, CDH23, RPS6KA3, FLI1, GP1BB, USP8, SEC24C, POLG2, DNMT3A, RREB1, RRM2B, TWNK, HIRA, UFD1, CLCN4, CHRNA7, FA2H, ATP2A2, POLG, TBX1, ARVCF, SMPD1, JMJD1C, MECP2, TH, DRD3, MAOA, BDNF, HTR2A, DRD4, SLC6A4, DRD2, ERDA1, PLA2G1B, BRD1, PFKL, SLC6A3, S100B, YWHAZ, MAFD1, DTNBP1, PLB1, DGKH, MAFD4, MAFD6, MAFD2, TSNAX-DISC1, HTR1F, DRD1, GRM3, DDC, HTR2C, DAO, GABRA5, DISC2, PBRM1, BFAR, ACE, GPR78, DISC1, KCNQ2, PRPF6, SYNE1, CUX2, UTS2, TOM1, HMGXB4, NR1H4, PACC1, CACNA1C, CRH, ABCG1, ADRB2, GRK3, DAOA-AS1, DAOA, AGT, ANK3, ATP1A3, PWAR1, TPH2, CHRFAM7A, SHANK3, MCHR2, ATP1B3, NPL, SLC52A2, DRD5, VAMP3, CLOCK, KCNN3, MCHR1, VAMP7, VAMP2, GRIA3, ADORA1, GSK3B, NRG1, HTR3A, PIP4K2A, HTR6, P2RX7, NCAM1, HTR7, IGF1, IMPA2, TCF4, UTS2R, TNF, NR1I2, GPR50, MAGI1, DCLK1, ERBB4, F2R, HIP1R, SLC14A2, TPH1, NR4A3, GABRB3, WFS1, GAD1, GNAZ, TRPM2, ADARB1

Drugs

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A number sign (#) is used with this entry because of evidence that susceptibility to bipolar disorder mapping to chromosome 22q12 is caused by polymorphism in the XBP1 gene (194355).

Mapping

Kelsoe et al. (2001) conducted a genome survey of bipolar disorder using 443 microsatellite markers in a set of 20 families from the general North American population to identify possible susceptibility loci. A maximum lod score of 3.8 was obtained at D22S278 on 22q. Positive scores were found spanning a region of nearly 32 cM on 22q, with a possible secondary peak at D22S419. D22S278 is located on 22q12; D22S419, which showed a lod score of 2.19, lies 15 cM proximal to D22S278.

Molecular Genetics

Kakiuchi et al. (2003) found an association between a -116G polymorphism in the promoter region of the XBP1 gene (194355.0001) and susceptibility to bipolar disorder (odds ratio = 4.6) in Japanese patients. The polymorphism occurs at the putative binding site of XBP1 and presumably interferes with the feedback loop. The concordance rate in monozygotic twins (more than 65%) is much higher than in dizygotic twins (more than 14%). Possible mechanisms of discordance between monozygotic twins include point mutations, extension of triplet repeats, chromosomal aberrations, altered X chromosome inactivation, and aberrant DNA methylation.