Publicly Available Single Nucleotide Polymorphisms in Genes Possibly Susceptible to Antiepileptic Drug Resistance in Healthy Koreans.
- Author:
Myeong Kyu KIM
1
;
Kang Ho CHOI
;
Tai Seung NAM
;
Joon Tae KIM
;
Seong Min CHOI
;
Man Seok PARK
;
Byeong Chae KIM
;
Ki Hyun CHO
Author Information
1. Department of Neurology, Chonnam National University Medical School, The Brain Korea 21 Project, Gwangju, Korea. mkkim@jnu.ac.kr
- Publication Type:Original Article
- Keywords:
Single-nucleotide polymorphism;
Antiepileptic drug
- MeSH:
5' Untranslated Regions;
Clinical Coding;
DNA;
Drug Resistance;
Gene Frequency;
Genome, Human;
Human Genome Project;
Humans;
Introns;
Polymorphism, Single Nucleotide
- From:Journal of the Korean Neurological Association
2010;28(2):85-90
- CountryRepublic of Korea
- Language:Korean
-
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.
