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Journal of Human Genetics
Article . 2003 . Peer-reviewed
License: Springer TDM
Data sources: Crossref
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Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population

Authors: Jong-Keuk, Lee; Hung-Tae, Kim; Sung-Mi, Cho; Kyung-Hee, Kim; Hee-Jeong, Jin; Gil-Mi, Ryu; Bermseok, Oh; +8 Authors

Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population

Abstract

Single nucleotide polymorphisms (SNPs) are considered as very promising genetic markers for complex disease gene hunting. However, it has been demonstrated that there are significant ethnic differences in genetic variations. In order to investigate the genetic variations in the Korean population and their ethnic differences, a large number of SNPs of 161 disease candidate genes were collected from a publicly available SNP database and then tested for the distribution of allele frequency in the Korean population. Of all 458 SNPs tested, approximately 43.9% were polymorphic in the Korean population, whereas 44.5% were monomorphic. The remaining 11.6% were failed in the test. Significant differences have been observed when SNP allele frequency pattern of Koreans was compared with those of Caucasians and Africans, whereas this pattern was highly similar between Korean and Japanese populations. Our data indicate that although many of the SNPs available in publicly available database, especially coding-region SNPs (cSNPs), can be used as informative genetic markers for disease association studies, an extensive verification of public SNPs in a particular population studied should be undertaken prior to their association studies.

Related Organizations
Keywords

Adult, Genetic Markers, Korea, Genotype, Genetic Diseases, Inborn, Black People, Middle Aged, Polymorphism, Single Nucleotide, White People, Asian People, Gene Frequency, Databases, Genetic, Humans, Female, Genetic Predisposition to Disease

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
24
Average
Top 10%
Top 10%
bronze