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Contribution of TIMP4 rs3755724 polymorphism to susceptibility to focal epilepsy in Malaysian Chinese.
Haerian, Batoul Sadat; Sha'ari, Hidayati Mohd; Fong, Choong Yi; Tan, Hui Jan; Wong, Sau Wei; Ong, Lai Choo; Raymond, Azman Ali; Tan, Chong Tin; Mohamed, Zahurin.
Afiliación
  • Haerian BS; Pharmacogenomics Laboratory, Department of Pharmacology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia. Electronic address: batoolsadat@yahoo.com.
  • Sha'ari HM; Pharmacogenomics Laboratory, Department of Pharmacology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
  • Fong CY; Division of Paediatrics Neurology, Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
  • Tan HJ; Division of Neurology, Department of Medicine, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia.
  • Wong SW; Division of Paediatrics Neurology, Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia.
  • Ong LC; Division of Paediatrics Neurology, Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
  • Raymond AA; Division of Neurology, Department of Medicine, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia.
  • Tan CT; Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
  • Mohamed Z; Pharmacogenomics Laboratory, Department of Pharmacology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
J Neuroimmunol ; 278: 137-43, 2015 Jan 15.
Article en En | MEDLINE | ID: mdl-25595263
Neuroinflammation can damage the brain and plays a critical role in the pathophysiology of epilepsy. Tissue inhibitor of metalloproteinase 4 (TIMP4) is an inflammation-induced apoptosis and matrix turnover factor involved in several neuronal disorders and inflammatory diseases. Evidence has shown linkage disequilibrium between rs3755724 (-55C/T) of this gene with synapsin 2 (SYN2) rs3773364 and peroxisome proliferator-activated G receptor (PPARG) rs2920502 loci, which contribute to epilepsy in Caucasians. The aim of this study was to examine the association of these loci alone or their haplotypes with the risk of epilepsy in the Malaysian population. Genomic DNA of 1241 Malaysian Chinese, Indian, and Malay subjects (670 patients with epilepsy and 571 healthy individuals) was genotyped for the candidate loci by using the Sequenom MassArray method. Allele and genotype association of rs3755724 with susceptibility to epilepsy was significant in the Malaysian Chinese with focal epilepsy under codominant and dominant models (C vs. T: 1.5 (1.1-2.0), p=0.02; CT vs. TT: 1.8 (1.2-2.8), p=0.007 and 1.8 (1.2-2.7), p=0.006, respectively). The T allele and the TT genotype were more common in patients than in controls. No significant association was found between rs2920502 and rs3773364-rs3755724-rs2920502 haplotypes for susceptibility to epilepsy in each ethnicity. This study provides evidence that the promoter TIMP4 rs3755724 is a new focal epilepsy susceptibility variant that is plausibly involved in inflammation-induced seizures in Malaysian Chinese.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epilepsias Parciales / Inhibidores Tisulares de Metaloproteinasas / Predisposición Genética a la Enfermedad / Polimorfismo de Nucleótido Simple Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: J Neuroimmunol Año: 2015 Tipo del documento: Article Pais de publicación: Países Bajos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Epilepsias Parciales / Inhibidores Tisulares de Metaloproteinasas / Predisposición Genética a la Enfermedad / Polimorfismo de Nucleótido Simple Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: J Neuroimmunol Año: 2015 Tipo del documento: Article Pais de publicación: Países Bajos