title: RORA gene rs12912233 and rs880626 polymorphisms and their interaction with SCN1A rs3812718 in the risk of epilepsy: a case-control study in Malaysia.
abstract: RAR-related orphan receptors A (RORA) and B (RORB) and voltage-gated sodium channel type 1 (SCN1A) genes play critical roles in the regulation of the circadian clock. Evidence has shown an association of RORA and RORB polymorphisms with susceptibility to autism and depression. Hence, we tested the association of RORA rs12912233, rs16943429, rs880626, rs2290430, and rs12900948; RORB rs1157358, rs7022435, rs3750420, and rs3903529; and SCN1A rs3812718 with epilepsy risk in the Malaysians. DNA was genotyped in 1789 subjects (39% epilepsy patients) by using MassARRAY (Sequenom). Significant association was obtained for rs12912233 in Malaysian Chinese (p=0.003). Interaction between rs12912233-rs880626 and rs3812718 was associated with the epilepsy risk in the subjects overall (p=0.001). Results show that RORA rs12912233 alone might be a possible risk variant for epilepsy in Malaysian Chinese, but that, together with RORA rs880626 and SCN1A rs3812718, this polymorphism may have a synergistic effect in the epilepsy risk in Malaysians.
authors: Pharmacogenomics Laboratory, Department of Pharmacology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia. Electronic address: batoolsadat@yahoo.com.
authors: Batoul Sadat
authors: BS
authors: Haerian
authors: Pharmacogenomics Laboratory, Department of Pharmacology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
authors: Hidayati Mohd
authors: HM
authors: Sha'ari
authors: Division of Neurology, Department of Medicine, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia.
authors: Hui Jan
authors: HJ
authors: Tan
authors: Division of Paediatric Neurology, Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
authors: Choong Yi
authors: CY
authors: Fong
authors: Division of Paediatric Neurology, Department of Paediatrics, Faculty of Medicine, University Kebangsaan Malaysia, Kuala Lumpur, Malaysia.
authors: Sau Wei
authors: SW
authors: Wong
authors: Division of Paediatric Neurology, Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
authors: Lai Choo
authors: LC
authors: Ong
authors: Division of Neurology, Department of Medicine, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia.
authors: Azman Ali
authors: AA
authors: Raymond
authors: Division of Neurology, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
authors: Chong Tin
authors: CT
authors: Tan
authors: Pharmacogenomics Laboratory, Department of Pharmacology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
authors: Zahurin
authors: Z
authors: Mohamed
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D004827:Epilepsy / Q000453:epidemiology / Q000235:genetics*; D004843:Epistasis, Genetic; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008296:Malaysia; D008297:Male; D008875:Middle Aged; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics*; D057094:Nuclear Receptor Subfamily 1, Group F, Member 1 / Q000235:genetics*; D057095:Nuclear Receptor Subfamily 1, Group F, Member 2 / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D055815:Young Adult
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; D057094:Nuclear Receptor Subfamily 1, Group F, Member 1; D057095:Nuclear Receptor Subfamily 1, Group F, Member 2; C539738:RORA protein, human; C539740:RORB protein, human; C568242:SCN1A protein, human
keywords: Epilepsy; Polymorphism; RORA; RORB; SCN1A; Susceptibility