title: Potential role of GABAA receptor subunit; GABRA6, GABRB2 and GABRR2 gene polymorphisms in epilepsy susceptibility and pharmacotherapy in North Indian population.
abstract: BACKGROUND
  GABA(A) receptors influence the susceptibility to seizures, and variations in the receptor genes can contribute to antiepileptic drug resistance also.
  
  
  METHODS
  We investigated the possible associations of single nucleotide polymorphisms (SNPs) present in GABRA6 c. 1512 T>C, GABRB2 c. 1412 C>T, and GABRR2 c. IVS2C>G genes of GABA(A) receptors in epilepsy susceptibility and drug resistance in northern Indian patients with epilepsy. After screening a total of 202 healthy controls and 401 epilepsy patients were enrolled in study. The genotyping was done by PCR-RFLP methods.
  
  
  RESULTS
  The GABRA6 c. 1512 T>C, polymorphism was conferring risk for epilepsy susceptibility for TC (P=0.018), CC (P=0.0001) genotype and for C allele (P=0.0002). Another polymorphism GABRB2 c. 1412 C>T was also conferring high risk for epilepsy susceptibility CT (P=0.012), TT (P=0.778) genotype and for variant T allele (P=0.034) but was not associated with drug resistance. No association was found with epilepsy susceptibility or with drug resistance in case of GABRR2 c. IVS2C>G gene polymorphism.
  
  
  CONCLUSIONS
  Overall, our findings suggest significant involvement of alpha (GABRA6) and beta (GABRB2) subunits of GABA(A) receptor in epilepsy susceptibility in north Indian population.
authors.affiliation: Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow-226014, India.
authors.forename: Ritu
authors.initials: R
authors.lastname: Kumari
authors.forename: Ram
authors.initials: R
authors.lastname: Lakhan
authors.forename: J
authors.initials: J
authors.lastname: Kalita
authors.forename: R K
authors.initials: RK
authors.lastname: Garg
authors.forename: U K
authors.initials: UK
authors.lastname: Misra
authors.forename: Balraj
authors.initials: B
authors.lastname: Mittal
mesh_terms: D000293:Adolescent; D000328:Adult; D004351:Drug Resistance / Q000235:genetics; D004827:Epilepsy / Q000188:drug therapy* / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007194:India; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics*; D011963:Receptors, GABA-A / Q000235:genetics*; D055815:Young Adult
chemical_list: C546171:GABRA6 protein, human; C495710:GABRB2 protein, human; C106350:GABRR2 protein, human; D011963:Receptors, GABA-A