Support for the MnlI polymorphism of SNAP25; a Korean ADHD case–control study

Choi, Tai Kiu; Lee, H S; Kim, J W; Park, T W; Song, Dong Ho; Yook, Ki-Hwan; Lee, S H; Kim, J I; Suh, Shin Young

doi:10.1038/sj.mp.4001922

Cited by 38 publications

(24 citation statements)

References 11 publications

(1 reference statement)

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“…16,[44][45][46] A high comorbidity has been reported between ADHD and BD, more specifically with early-onset BD. 47 Therefore, our results suggest that SNAP25 might be a common susceptibility factors for these psychiatric disorders.…”

Section: Discussionmentioning

confidence: 99%

A SNAP25 promoter variant is associated with early-onset bipolar disorder and a high expression level in brain

et al. 2009

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Bipolar disorder (BD) is one of the most common and persistent psychiatric disorders. Earlyonset BD has been shown to be the most severe and familial form. We recently carried out a whole-genome linkage analysis on sibpairs affected by early-onset BD and showed that the 20p12 region was more frequently shared in our families than expected by chance. The synaptosomal-associated protein SNAP25 is a presynaptic plasma membrane protein essential for the triggering of vesicular fusion and neurotransmitter release, and for which abnormal protein levels have been reported in postmortem studies of bipolar patients. We hypothesised that variations in the gene encoding SNAP25, located on chromosome 20p12, might influence the susceptibility to early-onset BD. We screened SNAP25 for mutations and performed a case-control association study in 197 patients with early-onset BD, 202 patients with late-onset BD and 136 unaffected subjects. In addition, we analysed the expression level of the two SNAP25 isoforms in 60 brains. We showed that one variant, located in the promoter region, was associated with early-onset BD but not with the late-onset subgroup. In addition, individuals homozygous for this variant showed a significant higher SNAP25b expression level in prefrontal cortex. These results show that variations in SNAP25, associated with an increased gene expression level in prefrontal cortex, might predispose to early-onset BD. Further analyses of this gene, as well as analysis of genes encoding for the SNAP25 protein partners, are required to understand the impact of such molecular mechanisms in BD.

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Section: Discussionmentioning

confidence: 99%

A SNAP25 promoter variant is associated with early-onset bipolar disorder and a high expression level in brain

et al. 2009

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“…Four TDT studies (Feng et al 2005a;Kustanovich et al 2003) and three Case-Control/ HHRR studies (Brophy et al 2002;Choi et al 2007;Mill et al 2004b) were identiWed for this meta-analysis. Given that previous studies had not reported a signiWcant association between this polymorphism and ADHD, a 'risk' allele was not designated.…”

Section: Synaptosomal-associated Protein 25 Gene (Snap-25)mentioning

confidence: 99%

Candidate gene studies of ADHD: a meta-analytic review

2009

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Quantitative genetic studies (i.e., twin and adoption studies) suggest that genetic influences contribute substantially to the development of attention deficit hyperactivity disorder (ADHD). Over the past 15 years, considerable efforts have been made to identify genes involved in the etiology of this disorder resulting in a large and often conflicting literature of candidate gene associations for ADHD. The first aim of the present study was to conduct a comprehensive meta-analytic review of this literature to determine which candidate genes show consistent evidence of association with childhood ADHD across studies. The second aim was to test for heterogeneity across studies in the effect sizes for each candidate gene as its presence might suggest moderating variables that could explain inconsistent results. Significant associations were identified for several candidate genes including DAT1, DRD4, DRD5, 5HTT, HTR1B, and SNAP25. Further, significant heterogeneity was observed for the associations between ADHD and DAT1, DRD4, DRD5, DBH, ADRA2A, 5HTT, TPH2, MAOA, and SNAP25, suggesting that future studies should explore potential moderators of these associations (e.g., ADHD subtype diagnoses, gender, exposure to environmental risk factors). We conclude with a discussion of these findings in relation to emerging themes relevant to future studies of the genetics of ADHD.

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“…Interestingly, several reports find associations between the DdeI and MnlI polymorphism of the SNAP-25 gene with ADHD in different populations (Choi et al 2007;Kustanovich et al 2003;Mill et al 2004). Moreover, imaging studies support growing evidence that the hippocampus and other limbic regions are involved in the patho-physiology of ADHD (Plessen et al 2006;Volkow et al 2007).…”

Section: Discussionmentioning

confidence: 78%

SNAP-25 genotype influences NAA/Cho in left hippocampus

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Zill³

et al. 2008

J Neural Transm

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The SNAP-25 gene is an integral part of the vesicle docking and fusion machinery that controls neurotransmitter release. Several post mortem studies revealed a reduction of SNAP-25 protein in the hippocampus of patients with schizophrenia and bipolar disorder (BD). Thirty-eight patients with schizophrenia, BD or obsessivecompulsive disorder and 17 healthy controls participated in the study. Proton magnetic resonance spectroscopy in left hippocampus was performed in each individual. Three single nucleotide polymorphisms (SNP) of the SNAP-25 gene were genotyped. Individuals with the homozygous CC genotype of the DdeI SNP presented a significantly higher ratio of N-acetyl-aspartate (NAA)/choline-containing compounds (Cho) in the left hippocampus compared to the group of individuals with the homozygous TT genotype. The SNAP-25 genotype may modulate synaptic plasticity and neurogenesis in the left hippocampus, and altered NAA/Cho ratio may be an indicator for this genetic modulation of neuronal function in the hippocampus.

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Support for the MnlI polymorphism of SNAP25; a Korean ADHD case–control study

Cited by 38 publications

References 11 publications

A SNAP25 promoter variant is associated with early-onset bipolar disorder and a high expression level in brain

A SNAP25 promoter variant is associated with early-onset bipolar disorder and a high expression level in brain

Candidate gene studies of ADHD: a meta-analytic review

SNAP-25 genotype influences NAA/Cho in left hippocampus

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