Abstract Details

Title Adenosine Deaminase (ADA1) Gene Variants are Associated with Mood Disorders in Patients with Temporal Lobe Epilepsy

Topic Epilepsy/Clinical Neurophysiology (EEG)

Presentation(s) P2 - Poster Session 2 (5:30 PM-6:30 PM)

Poster/Presentation
Number 6-016

Objective

To tested if ADA1 allele variants rs73598374, rs452159, and rs6031682 are risk factors for epilepsy or neuropsychiatric comorbidities associated with temporal lobe epilepsy (TLE).

Background

The control of adenosine levels is fundamental for brain development and neural plasticity. Adenosine act as a natural mediator of seizure arrest and postictal refractoriness. Adenosine is also linked to neuropsychiatric disorders. Despite of the importance of adenosine for pathophysiology of epilepsy, the impact of ADA1 allele variants in its development and clinical variability has been poorly investigated.

Design/Methods A genetic association study with a 160 TLE patients and 100 healthy controls. We tested ADA1 allele variants rs73598374, rs452159, and rs6031682. All TLE patients had detailed medical variables analyzed and were submitted to Structured Clinical Interview for DSM-IV (SCID) for evaluating neuropsychiatric comorbidities. All subjects were genotyped by TaqMan® SNP genotyping assays in a Real-Time PCR System.

Results The mean age of TLE patients was 44.5 (SD=12.4) years; 107 patients (66.9%) were females. The duration of epilepsy was 25.45 (SD=4.1) years. Mood, anxiety or psychotic disorders were observed in 73 (45.6%), 52 (32.5%) and 15 (9.4%) of TLE patients, respectively. ADA1 allele variability was similar between the 160 TLE patients and 100 controls, a result suggesting that the ADA1 allele variants studied are not risk factors for development of epilepsy. Univariate analysis showed that female sex and anxiety were risk factors for mood disorders in TLE patients. The frequency of the T allele in the ADA1 rs452159 was higher in patients with TLE with mood disorders (p=0.027). After logistic regression, independent risk for mood disorders in TLE were female sex (O.R.=2.1; 95%CI=1.2-4.1; p=0.04), presence of associated anxiety disorder (O.R.=2.6; 95%CI= 1.3-5.3; p=0.008), and TT genotype in rs452159 ADA1 gene (O.R.=12.4; 95%CI=1.5-105.0; p=0.021).

Conclusions ADA1 rs452159 TT genotype may be an independent risk factor for mood disorder in TLE.

Authors/Disclosures
PRESENTER	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
Marino Bianchini	No disclosure on file
	No disclosure on file
	No disclosure on file

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