G2Cdb::Human Disease report

Disease id
D00000171
Name
Major depressive disorder
Nervous system disease
yes

Genes (2)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001821 SHANK2
SH3 and multiple ankyrin repeat domains 2
N (15118355) Repeat polymorphism (RP) ?
G00000030 NOS1
nitric oxide synthase 1 (neuronal)
Y (12759556) Single nucleotide polymorphism (SNP) N

References

  • BanI polymorphism of the cytosolic phospholipase A2 gene and mood disorders in the Korean population.

    Pae CU, Yu HS, Kim JJ, Lee CU, Lee SJ, Lee KU, Jun TY, Paik IH, Serretti A and Lee C

    Department of Psychiatry, Kangnam St. Mary's Hospital, The Catholic University of Korea, College of Medicine, Seoul, Korea.

    Membrane phospholipid abnormalities have been proposed to be involved in the pathogenesis of mood disorders, and in signal transduction and neurotransmitter uptake. Cytosolic phospholipase A2 (cPLA2) is not only an essential enzyme in the metabolism of fatty acids but also in signaling process. Therefore, we examined the association between the BanI polymorphism of the cPLA2 gene and mood disorders. Sixty-two patients with major depressive disorder (MDD), 50 patients with bipolar I disorder (BID) and 117 healthy controls participated in this study. Genotyping was performed by using PCR-based methods. Genotype and allele distributions in MDD patients were significantly different from those of the controls. In particular, the A2 allele was associated with increased risk of MDD development (p = 0.007, odds ratio = 1.827; confidence interval = 1.141-2.927). However, the polymorphism was not different between BID patients and controls in genotype and allele distribution. This preliminary study indicates the need for further studies on the potential role of the cPLA2 gene polymorphism in the susceptibility to mood disorders.

    Neuropsychobiology 2004;49;4;185-8

  • Association analysis for neuronal nitric oxide synthase gene polymorphism with major depression and fluoxetine response.

    Yu YW, Chen TJ, Wang YC, Liou YJ, Hong CJ and Tsai SJ

    Yu's Psychiatric Clinic, Kaohsiung, Taipei, Taiwan, ROC.

    Nitric oxide (NO) is produced from its precursor L-arginine by the enzyme NO synthase (NOS), which includes at least three distinct isoforms - neuronal (nNOS), endothelial, and inducible NOS. Recent studies have implicated NOS in the mechanism that underlies the therapeutic efficacy of antidepressant medication. In addition, major depressive disorder (MDD) patients were found to have significantly higher plasma nitrate concentrations than normal subjects, an index of NO production, in comparison to normal subjects. In a population-based association study, we tested the hypothesis that the nNOS C276T polymorphism confers susceptibility to MDD. We also examined the association between this polymorphism and therapeutic fluoxetine response in 114 MDD patients who underwent a 4-week fluoxetine treatment. The results demonstrate that the nNOS variants are found at similar frequencies in MDD patients and healthy control subjects. Further, we did not discover any genetic variants that influenced the fluoxetine response in MDD patients treated with fluoxetine. Our findings suggest that this nNOS C276T polymorphism does not play a major role in the susceptibility to, or fluoxetine response in, MDD. However, the association between other NOS variants and MDD or antidepressant response, including sexual dysfunction, may warrant further investigation.

    Neuropsychobiology 2003;47;3;137-40

Literature (2)

Pubmed - human_disease

  • BanI polymorphism of the cytosolic phospholipase A2 gene and mood disorders in the Korean population.

    Pae CU, Yu HS, Kim JJ, Lee CU, Lee SJ, Lee KU, Jun TY, Paik IH, Serretti A and Lee C

    Department of Psychiatry, Kangnam St. Mary's Hospital, The Catholic University of Korea, College of Medicine, Seoul, Korea.

    Membrane phospholipid abnormalities have been proposed to be involved in the pathogenesis of mood disorders, and in signal transduction and neurotransmitter uptake. Cytosolic phospholipase A2 (cPLA2) is not only an essential enzyme in the metabolism of fatty acids but also in signaling process. Therefore, we examined the association between the BanI polymorphism of the cPLA2 gene and mood disorders. Sixty-two patients with major depressive disorder (MDD), 50 patients with bipolar I disorder (BID) and 117 healthy controls participated in this study. Genotyping was performed by using PCR-based methods. Genotype and allele distributions in MDD patients were significantly different from those of the controls. In particular, the A2 allele was associated with increased risk of MDD development (p = 0.007, odds ratio = 1.827; confidence interval = 1.141-2.927). However, the polymorphism was not different between BID patients and controls in genotype and allele distribution. This preliminary study indicates the need for further studies on the potential role of the cPLA2 gene polymorphism in the susceptibility to mood disorders.

    Neuropsychobiology 2004;49;4;185-8

  • Association analysis for neuronal nitric oxide synthase gene polymorphism with major depression and fluoxetine response.

    Yu YW, Chen TJ, Wang YC, Liou YJ, Hong CJ and Tsai SJ

    Yu's Psychiatric Clinic, Kaohsiung, Taipei, Taiwan, ROC.

    Nitric oxide (NO) is produced from its precursor L-arginine by the enzyme NO synthase (NOS), which includes at least three distinct isoforms - neuronal (nNOS), endothelial, and inducible NOS. Recent studies have implicated NOS in the mechanism that underlies the therapeutic efficacy of antidepressant medication. In addition, major depressive disorder (MDD) patients were found to have significantly higher plasma nitrate concentrations than normal subjects, an index of NO production, in comparison to normal subjects. In a population-based association study, we tested the hypothesis that the nNOS C276T polymorphism confers susceptibility to MDD. We also examined the association between this polymorphism and therapeutic fluoxetine response in 114 MDD patients who underwent a 4-week fluoxetine treatment. The results demonstrate that the nNOS variants are found at similar frequencies in MDD patients and healthy control subjects. Further, we did not discover any genetic variants that influenced the fluoxetine response in MDD patients treated with fluoxetine. Our findings suggest that this nNOS C276T polymorphism does not play a major role in the susceptibility to, or fluoxetine response in, MDD. However, the association between other NOS variants and MDD or antidepressant response, including sexual dysfunction, may warrant further investigation.

    Neuropsychobiology 2003;47;3;137-40

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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