Publicly Available Single Nucleotide Polymorphisms in Genes Possibly
Susceptible to Antiepileptic Drug Resistance in Healthy Koreans

J Korean Neurol Assoc > Volume 28(2); 2010 > Article

Journal of the Korean Neurological Association 2010;28(2): 85-90.

정상 한국인의 항간질약 내성기전에 관여할 것으로 추정되는 유전자변이 정보

김명규, 최강호 a 남태승 c 김준태 a 최성민 c 박만석 c 김병채 a 조기현 a

전남대학교 의과대학 신경과학교실 a , 전남대학교 의생명인력사업단 b , 화순전남대학교병원 c

Publicly Available Single Nucleotide Polymorphisms in Genes Possibly Susceptible to Antiepileptic Drug Resistance in Healthy Koreans

M yeong-Kyu Kim

Department of Neurology a , Chonnam National University Medical School, The Brain Korea 21 Project, Center for Biomedical Human Resources at Chonnam National University b , Chonnam National University Hwasun Hospital c , Gwangju, Korea

Abstract

Background: The completion of the human genome project means that a high-quality reference sequence of the gene-rich portion of the human genome is now available. However, the strong influence of ethnic, geographical, and other characteristics of study populations on the frequencies of different single-nucleotide polymorphisms (SNPs) makes it questionable whether foreign SNP data should be used in domestic studies.
Methods: Twenty-seven possible candidate genes of antiepileptic drug (AED) resistance were resequenced in a DNA pool from 200 healthy Koreans to identify SNPs and calculate their minor allele frequencies (MAFs).
Results: A total of 98 SNPs were present in 22 of the 27 genes: 28 were in the coding regions, 34 were in introns, 23 were in 5’ near genes, 10 were in 5’ untranslated regions, and 3 were in 3’ near genes.
Conclusions: The comparative analysis using the pooled DNA adopted in the present study was highly reliable in estimating MAFs and was compatible with the common disease/common variant hypothesis. The reported data on 98 publicly available SNPs of genes possibly associated with AED resistance that be useful to researchers with limited availability of domestic SNP data. Key Words: Single-nucleotide polymorphism, Antiepileptic drug