INVESTIGADORES
KOCHEN Sara Silvia
congresos y reuniones científicas
Título:
Transcriptionally deficient alleles of prodynorphin gene and the risk to develop temporal lobe epilepsy
Autor/es:
KAUFFMAN M, CONSALVO D, GONZALEZ MORON D, KOCHEN S
Lugar:
Boston
Reunión:
Congreso; American Academy of Neurology; 2007
Resumen:
OBJECTIVE: To investigate the role of transcriptionally defficient polymorphic alleles of Prodynorphin (PDYN) gene in the
development of Temporal Lobe Epilepsy (TLE). BACKGROUND: Genetic factors could be important for the development
of TLE. PDYN might be involved in regulatory mechanism of neuronal synchrony in the hippocampus. The PDYN gene
promoter exhibits a functional repetitive motive polymorphism. High repetition alleles (H) are transcriptionally more efficient than
low repetition alleles (L). DESIGN/METHODS: We performed an association study in a population of patients with
Mesial TLE with Hippocampal Sclerosis (MTEHS) and a systematic revision of the literature. 102 MTEHS patients and 86
healthy controls were included. We investigated the antecedent of family history for epileptic events. The PDYN promoter
polymorphism was genotypified by means of a PCR assay. We compared allelic and genotypic frequencies using X2 test. We
estimated Odds Ratio (OR) by logistic regression. For meta-analysis, we identified case-control association studies between
TLE and PDYN searching in PUBMED. We extracted allelic and genotypic frequencies. We estimated pooled OR using a fixed
effects model under dominant and co-dominant heredity. RESULTS: In our population, neither the genotypic and allelic
frequencies were different between cases and controls (p=0.61) of 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) with a modestly higher risk to develop TLE in the group of
patients with familial predisposition. CONCLUSIONS/RELEVANCE: Functional allelic variants in the PDYN promoter
could modify the risk to develop TLE in subjects familiarly predisposed. Supported by: Dr. Kauffman has a PhD. Scholarship
from CONICET, Ministry of Health, Argentina.
Category - Epilepsy
SubCategory - Genetics
Thursday, MayTo investigate the role of transcriptionally defficient polymorphic alleles of Prodynorphin (PDYN) gene in the
development of Temporal Lobe Epilepsy (TLE). BACKGROUND: Genetic factors could be important for the development
of TLE. PDYN might be involved in regulatory mechanism of neuronal synchrony in the hippocampus. The PDYN gene
promoter exhibits a functional repetitive motive polymorphism. High repetition alleles (H) are transcriptionally more efficient than
low repetition alleles (L). DESIGN/METHODS: We performed an association study in a population of patients with
Mesial TLE with Hippocampal Sclerosis (MTEHS) and a systematic revision of the literature. 102 MTEHS patients and 86
healthy controls were included. We investigated the antecedent of family history for epileptic events. The PDYN promoter
polymorphism was genotypified by means of a PCR assay. We compared allelic and genotypic frequencies using X2 test. We
estimated Odds Ratio (OR) by logistic regression. For meta-analysis, we identified case-control association studies between
TLE and PDYN searching in PUBMED. We extracted allelic and genotypic frequencies. We estimated pooled OR using a fixed
effects model under dominant and co-dominant heredity. RESULTS: In our population, neither the genotypic and allelic
frequencies were different between cases and controls (p=0.61) of 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) with a modestly higher risk to develop TLE in the group of
patients with familial predisposition. CONCLUSIONS/RELEVANCE: Functional allelic variants in the PDYN promoter
could modify the risk to develop TLE in subjects familiarly predisposed. Supported by: Dr. Kauffman has a PhD. Scholarship
from CONICET, Ministry of Health, Argentina.
Category - Epilepsy
SubCategory - Genetics
Thursday, MayBACKGROUND: Genetic factors could be important for the development
of TLE. PDYN might be involved in regulatory mechanism of neuronal synchrony in the hippocampus. The PDYN gene
promoter exhibits a functional repetitive motive polymorphism. High repetition alleles (H) are transcriptionally more efficient than
low repetition alleles (L). DESIGN/METHODS: We performed an association study in a population of patients with
Mesial TLE with Hippocampal Sclerosis (MTEHS) and a systematic revision of the literature. 102 MTEHS patients and 86
healthy controls were included. We investigated the antecedent of family history for epileptic events. The PDYN promoter
polymorphism was genotypified by means of a PCR assay. We compared allelic and genotypic frequencies using X2 test. We
estimated Odds Ratio (OR) by logistic regression. For meta-analysis, we identified case-control association studies between
TLE and PDYN searching in PUBMED. We extracted allelic and genotypic frequencies. We estimated pooled OR using a fixed
effects model under dominant and co-dominant heredity. RESULTS: In our population, neither the genotypic and allelic
frequencies were different between cases and controls (p=0.61) of 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) with a modestly higher risk to develop TLE in the group of
patients with familial predisposition. CONCLUSIONS/RELEVANCE: Functional allelic variants in the PDYN promoter
could modify the risk to develop TLE in subjects familiarly predisposed. Supported by: Dr. Kauffman has a PhD. Scholarship
from CONICET, Ministry of Health, Argentina.
Category - Epilepsy
SubCategory - Genetics
Thursday, MayDESIGN/METHODS: We performed an association study in a population of patients with
Mesial TLE with Hippocampal Sclerosis (MTEHS) and a systematic revision of the literature. 102 MTEHS patients and 86
healthy controls were included. We investigated the antecedent of family history for epileptic events. The PDYN promoter
polymorphism was genotypified by means of a PCR assay. We compared allelic and genotypic frequencies using X2 test. We
estimated Odds Ratio (OR) by logistic regression. For meta-analysis, we identified case-control association studies between
TLE and PDYN searching in PUBMED. We extracted allelic and genotypic frequencies. We estimated pooled OR using a fixed
effects model under dominant and co-dominant heredity. RESULTS: In our population, neither the genotypic and allelic
frequencies were different between cases and controls (p=0.61) of 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) with a modestly higher risk to develop TLE in the group of
patients with familial predisposition. CONCLUSIONS/RELEVANCE: Functional allelic variants in the PDYN promoter
could modify the risk to develop TLE in subjects familiarly predisposed. Supported by: Dr. Kauffman has a PhD. Scholarship
from CONICET, Ministry of Health, Argentina.
Category - Epilepsy
SubCategory - Genetics
Thursday, May2 test. We
estimated Odds Ratio (OR) by logistic regression. For meta-analysis, we identified case-control association studies between
TLE and PDYN searching in PUBMED. We extracted allelic and genotypic frequencies. We estimated pooled OR using a fixed
effects model under dominant and co-dominant heredity. RESULTS: In our population, neither the genotypic and allelic
frequencies were different between cases and controls (p=0.61) of 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) with a modestly higher risk to develop TLE in the group of
patients with familial predisposition. CONCLUSIONS/RELEVANCE: Functional allelic variants in the PDYN promoter
could modify the risk to develop TLE in subjects familiarly predisposed. Supported by: Dr. Kauffman has a PhD. Scholarship
from CONICET, Ministry of Health, Argentina.
Category - Epilepsy
SubCategory - Genetics
Thursday, MayRESULTS: In our population, neither the genotypic and allelic
frequencies were different between cases and controls (p=0.61) of 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) with a modestly higher risk to develop TLE in the group of
patients with familial predisposition. CONCLUSIONS/RELEVANCE: Functional allelic variants in the PDYN promoter
could modify the risk to develop TLE in subjects familiarly predisposed. Supported by: Dr. Kauffman has a PhD. Scholarship
from CONICET, Ministry of Health, Argentina.
Category - Epilepsy
SubCategory - Genetics
Thursday, MayCONCLUSIONS/RELEVANCE: Functional allelic variants in the PDYN promoter
could modify the risk to develop TLE in subjects familiarly predisposed. Supported by: Dr. Kauffman has a PhD. Scholarship
from CONICET, Ministry of Health, Argentina.
Category - Epilepsy
SubCategory - Genetics
Thursday, May