Association of insulin receptor H1085H C>T, insulin receptor substrate 1 G972R and insulin receptor substrate 2 1057G/A polymorphisms with refractory temporal lobe epilepsy in Han Chinese.

Che, F ; Fu, Q ; et al.

In: Seizure, Jg. 25 (2015-02-01), S. 178-80

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Purpose: Insulin/insulin receptor (INSR) signaling plays diverse roles in the central nervous system, including regulation of blood glucose, synaptic plasticity, dendritic growth, modulation of electrophysiological activity, proliferation of astrocytes and neuronal apoptosis. Interestingly, many of these and/or related processes represent biological mechanisms associated with temporal lobe epilepsy (TLE). Thus, insulin signaling may play a role in the development of TLE and its therapeutic responses. We hypothesized that functional polymorphisms in the insulin pathway genes INSR, insulin receptor substrate 1 (IRS1), and IRS2 may be associated with the therapeutic responses of TLE. Therefore, in this study we analyzed the association of three single nucleotide polymorphisms (SNPs) showing a risk for TLE drug resistance using a hospital-based case-control design.

Method: Two hundred and one patients with refractory TLE and one hundred and seventy-five drug-responsive TLE patients were recruited for the study. Polymerase chain reaction-restriction fragment length polymorphism was used to detect the genotypes of INSR His1085His, IRS1 G972R and IRS2 1057G/A.

Results: No significant differences between refractory and drug-responsive TLE patients were observed for the IRS1 G972R and IRS2 1057G/A polymorphisms (P>0.05), but a significant association was found for the INSR His1085His polymorphism for both genotypes (P=0.035) and alleles (P=0.011). IRS2 1057G/A combined with the INSR His 1085 His polymorphism increased the odds ratio of drug resistance in TLE (P=0.011, OR=2.263, 95% CI: 1.208-4.239).

Conclusion: These results suggest that a genetic variation in the insulin signaling pathway genes may affect the therapeutic response of TLE.

Titel:	Association of insulin receptor H1085H C>T, insulin receptor substrate 1 G972R and insulin receptor substrate 2 1057G/A polymorphisms with refractory temporal lobe epilepsy in Han Chinese.
Autor/in / Beteiligte Person:	Che, F ; Fu, Q ; Li, X ; Gao, N ; Qi, F ; Sun, Z ; Du, Y ; Li, M
Link:	Full Text Finder (Volltext)
Zeitschrift:	Seizure, Jg. 25 (2015-02-01), S. 178-80
Veröffentlichung:	London : Elsevier ; <i>Original Publication</i>: London : Baillière Tindall, c1992-, 2015
Medientyp:	academicJournal
ISSN:	1532-2688 (electronic)
DOI:	10.1016/j.seizure.2014.09.014
Schlagwort:	Adult Alleles Anticonvulsants therapeutic use Asian People genetics Case-Control Studies China Epilepsy, Temporal Lobe drug therapy Female Gene Frequency Genetic Predisposition to Disease Genotype Humans Male Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Polymorphism, Single Nucleotide Antigens, CD genetics Drug Resistance genetics Epilepsy, Temporal Lobe genetics Insulin Receptor Substrate Proteins genetics Receptor, Insulin genetics
Sonstiges:	Nachgewiesen in: MEDLINE Sprachen: English Publication Type: Journal Article; Research Support, Non-U.S. Gov't Language: English [Seizure] 2015 Feb; Vol. 25, pp. 178-80. <i>Date of Electronic Publication: </i>2014 Oct 05. MeSH Terms: Antigens, CD / genetics ; Drug Resistance / genetics ; Epilepsy, Temporal Lobe / genetics ; Insulin Receptor Substrate Proteins / genetics ; Receptor, Insulin / *genetics ; Adult ; Alleles ; Anticonvulsants / therapeutic use ; Asian People / genetics ; Case-Control Studies ; China ; Epilepsy, Temporal Lobe / drug therapy ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; Male ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Polymorphism, Single Nucleotide Contributed Indexing: Keywords: Drug resistance; Epilepsy, temporal lobe; Insulin receptor substrate proteins; Polymorphism, single nucleotide Substance Nomenclature: 0 (Anticonvulsants) ; 0 (Antigens, CD) ; 0 (IRS1 protein, human) ; 0 (IRS2 protein, human) ; 0 (Insulin Receptor Substrate Proteins) ; EC 2.7.10.1 (INSR protein, human) ; EC 2.7.10.1 (Receptor, Insulin) Entry Date(s): Date Created: 20141203 Date Completed: 20150923 Latest Revision: 20221207 Update Code: 20240513

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