Affiliations: Consultorio de Neurogenética, Hospital Ramos
Mejía, Buenos Aires, Argentina | Centro de Epilepsia, División Neurología,
Hospital Ramos Mejia, CEFYBO, CONICET, Buenos Aires, Argentina | Residencia de Neurología, División
Neurología, Hospital Ramos Mejia, Buenos Aires, Argentina
Note: [] Corresponding author: Marcelo A. Kauffman, MD, MSc., Consultorio
de Neurogenética, División Neurología, Hospital JM Ramos
Mejía, Urquiza 609, 1221 Buenos Aires, Argentina. Tel./Fax: +54 11 4127
0280; E-mail: marcelokauffman@gmail.com
Abstract: We performed an association study in a population of patients with
Mesial Temporal Lobe Epilepsy (TLE) with Hippocampal Sclerosis (MTEHS) together
with a systematic revision of the literature to investigate the role of
transcriptionally less active polymorphic alleles of Prodynorphin (PDYN) gene
in this pathology. We included 102 patients with a diagnosis of MTEHS and 86
healthy controls. The positive antecedent of family history for epileptic
events defined a TLE subgroup with familial predisposition for epileptic
disorders. The PDYN promoter polymorphism was genotyped by means of a PCR
assay. For meta-analysis, we identified case-control association studies
between TLE and PDYN by searching PUBMED. The pooled OR was estimated using a
fixed effects model under dominant and co-dominant heredity models. No
differences in genotypic and allelic frequencies were found between cases and
controls (p=0.61) in our population, neither in the whole
cohort nor in the analysis limited to TLE with familial
predisposition (p=0.71). The Meta-Analysis included 591 TLE
patients and 1117 healthy controls. We found an association between L allele
(p=0.003; OR=1.40; IC 95=1.12–1.74) and a modestly higher risk to develop TLE in
the group of patients with familial predisposition. Therefore, functional
allelic variants in the PDYN promoter might modify the risk to develop TLE in
subjects with familial predisposition.
