Analysis of genotype and haplotype effects of ABCB1 (MDR1) polymorphisms in the risk of medically refractory epilepsy in an indian population

Saadi Abdul Vahab, Supratim Sen, Nivedita Ravindran, Sridevi Mony, Anila Mathew, Neetha Vuayan, Geetha Nayak, Nalini Bhaskaranand, Moinak Banerjee, Kapaettu Satyamoorthy

Research output: Contribution to journalArticle

49 Citations (Scopus)

Abstract

The transmembrane P-glycoprotein that functions as a drug-efflux transporter coded by ATP-binding cassette, subfamily B, member 1/ Multidrug Resistance 1 (ABCB1/MDR1) gene is considered relevant to drug absorption and elimination, with access to the central nervous system. Effects of three ABCB1 single nucleotide polymorphisms (SNPs) in genotypic and haplotypic combination have been evaluated in a south Indian population for risk of pediatric medically refractory epilepsy. The study included age and sex matched medically refractory (N=113) cases and drug responsive epilepsy patients (N=129) as controls, belonging to the same ethnic population recruited from a tertiary referral centre, of Karnataka, Southern India. The genotype frequencies of SNPs c.1236C>T, c.2677G>T/A, and c.3435C>T were determined from genomic DNA of the cases and controls by PCR- RFLP and confirmatory DNA sequencing. 256 normal population samples of the same ethnicity were genotyped for the three loci to check for population stratification. Results indicate that there was no statistically significant difference between allele and genotype frequencies of refractory and drug responsive epilepsy patients. The predicted haplotype frequencies of the three polymorphisms did not show significant difference between cases and controls. The results confirm earlier observations on absence of association of ABCB1 polymorphisms with medically refractory epilepsy.

Original languageEnglish
Pages (from-to)255-260
Number of pages6
JournalDrug Metabolism and Pharmacokinetics
Volume24
Issue number3
DOIs
Publication statusPublished - 2009

Fingerprint

Haplotypes
Epilepsy
Genotype
Population
Single Nucleotide Polymorphism
Pharmaceutical Preparations
MDR Genes
ATP-Binding Cassette Transporters
P-Glycoprotein
DNA Sequence Analysis
Tertiary Care Centers
Gene Frequency
Restriction Fragment Length Polymorphisms
India
Central Nervous System
Pediatrics
Polymerase Chain Reaction
DNA

All Science Journal Classification (ASJC) codes

  • Pharmacology
  • Pharmaceutical Science
  • Pharmacology (medical)

Cite this

Vahab, Saadi Abdul ; Sen, Supratim ; Ravindran, Nivedita ; Mony, Sridevi ; Mathew, Anila ; Vuayan, Neetha ; Nayak, Geetha ; Bhaskaranand, Nalini ; Banerjee, Moinak ; Satyamoorthy, Kapaettu. / Analysis of genotype and haplotype effects of ABCB1 (MDR1) polymorphisms in the risk of medically refractory epilepsy in an indian population. In: Drug Metabolism and Pharmacokinetics. 2009 ; Vol. 24, No. 3. pp. 255-260.
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Analysis of genotype and haplotype effects of ABCB1 (MDR1) polymorphisms in the risk of medically refractory epilepsy in an indian population. / Vahab, Saadi Abdul; Sen, Supratim; Ravindran, Nivedita; Mony, Sridevi; Mathew, Anila; Vuayan, Neetha; Nayak, Geetha; Bhaskaranand, Nalini; Banerjee, Moinak; Satyamoorthy, Kapaettu.

In: Drug Metabolism and Pharmacokinetics, Vol. 24, No. 3, 2009, p. 255-260.

Research output: Contribution to journalArticle

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AU - Vahab, Saadi Abdul

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AU - Ravindran, Nivedita

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AU - Mathew, Anila

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AU - Nayak, Geetha

AU - Bhaskaranand, Nalini

AU - Banerjee, Moinak

AU - Satyamoorthy, Kapaettu

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