J Korean Neurol Assoc.  2010 May;28(2):85-90.

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

• Kim MK
• Choi KH
• Nam TS
• Kim JT
• Choi SM
• Park MS
• Kim BC
• Cho KH

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.

Keyword

Single-nucleotide polymorphism; Antiepileptic drug

MeSH Terms

5' Untranslated Regions
Clinical Coding
DNA
Drug Resistance
Gene Frequency
Genome, Human
Human Genome Project
Humans
Introns
Polymorphism, Single Nucleotide
5' Untranslated Regions
DNA