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Major affective disorder 1; MAFD1

Disease ID:147
Name:Major affective disorder 1; MAFD1
Associated with:5 targets
Bipolar affective disorder | Manic depressive-psychosis
Database Links
OMIM: 125480


D3 receptor
Role:  The Ba1I polymorphism has been associated with bipolar disorder
References:  3
Comments:  A significant association between the 5'untranslated region (UTR)variant c.-42 C>T (=C178T) in patients with bipolar disorder compared to healthy controls has been demonstated. Luciferase reporter assays revealed a significant up-regulation of gene expression on protein level. This variant in HTR3A may represent a functional variant and affect the susceptibility to bipolar disorder.
References:  2
Mutations:  5-HT3A is associated with 1 mutation. Click here for details
Comments:  This deletion in the promotor region of the HTR3B gene is underrepresented in a sample of patients suffering from bipolar depression.
References:  1
Mutations:  5-HT3B is associated with 1 mutation. Click here for details
Role:  Downregulation or mutation of TRPM2 may be associated with bipolar disorder.
References:  5-6
Role:  Unknown; R394H mutation shifts voltage dependence of activation to more positive potentials and slows activation kinetics
References:  4
Mutations:  Kv11.3 is associated with 1 mutation. Click here for details


No ligand related data available for Major affective disorder 1; MAFD1


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1. Frank B, Niesler B, Nöthen MM, Neidt H, Propping P, Bondy B, Rietschel M, Maier W, Albus M, Rappold G. (2004) Investigation of the human serotonin receptor gene HTR3B in bipolar affective and schizophrenic patients. Am J Med Genet B Neuropsychiatr Genet, 131B (1): 1-5. [PMID:15389765]

2. Niesler B, Flohr T, Nöthen MM, Fischer C, Rietschel M, Franzek E, Albus M, Propping P, Rappold GA. (2001) Association between the 5' UTR variant C178T of the serotonin receptor gene HTR3A and bipolar affective disorder. Pharmacogenetics, 11 (6): 471-5. [PMID:11505217]

3. Parsian A, Chakraverty S, Todd RD. (1995) Possible association between the dopamine D3 receptor gene and bipolar affective disorder. Am J Med Genet, 60 (3): 234-7. [PMID:7573178]

4. Strauss KA, Markx S, Georgi B, Paul SM, Jinks RN, Hoshi T, McDonald A, First MB, Liu W, Benkert AR et al.. (2014) A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder. Hum Mol Genet, 23 (23): 6395-406. [PMID:24986916]

5. Xu C, Macciardi F, Li PP, Yoon IS, Cooke RG, Hughes B, Parikh SV, McIntyre RS, Kennedy JL, Warsh JJ. (2006) Association of the putative susceptibility gene, transient receptor potential protein melastatin type 2, with bipolar disorder. Am J Med Genet B Neuropsychiatr Genet, 141B (1): 36-43. [PMID:16252251]

6. Yoon IS, Li PP, Siu KP, Kennedy JL, Macciardi F, Cooke RG, Parikh SV, Warsh JJ. (2001) Altered TRPC7 gene expression in bipolar-I disorder. Biol Psychiatry, 50 (8): 620-6. [PMID:11690598]