Cargando…

Allelic Frequencies of 20 Visible Phenotype Variants in the Korean Population

The prediction of externally visible characteristics from DNA has been studied for forensic genetics over the last few years. Externally visible characteristics include hair, skin, and eye color, height, and facial morphology, which have high heritability. Recent studies using genome-wide associatio...

Descripción completa

Detalles Bibliográficos
Autores principales: Lim, Ji Eun, Oh, Bermseok
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korea Genome Organization 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3704932/
https://www.ncbi.nlm.nih.gov/pubmed/23843775
http://dx.doi.org/10.5808/GI.2013.11.2.93
_version_ 1782476369823793152
author Lim, Ji Eun
Oh, Bermseok
author_facet Lim, Ji Eun
Oh, Bermseok
author_sort Lim, Ji Eun
collection PubMed
description The prediction of externally visible characteristics from DNA has been studied for forensic genetics over the last few years. Externally visible characteristics include hair, skin, and eye color, height, and facial morphology, which have high heritability. Recent studies using genome-wide association analysis have identified genes and variations that correlate with human visible phenotypes and developed phenotype prediction programs. However, most prediction models were constructed and validated based on genotype and phenotype information on Europeans. Therefore, we need to validate prediction models in diverse ethnic populations. In this study, we selected potentially useful variations for forensic science that are associated with hair and eye color, iris pattern, and facial morphology, based on previous studies, and analyzed their frequencies in 1,920 Koreans. Among 20 single nucleotide polymorphisms (SNPs), 10 SNPs were polymorphic, 6 SNPs were very rare (minor allele frequency < 0.005), and 4 SNPs were monomorphic in the Korean population. Even though the usability of these SNPs should be verified by an association study in Koreans, this study provides 10 potential SNP markers for forensic science for externally visible characteristics in the Korean population.
format Online
Article
Text
id pubmed-3704932
institution National Center for Biotechnology Information
language English
publishDate 2013
publisher Korea Genome Organization
record_format MEDLINE/PubMed
spelling pubmed-37049322013-07-10 Allelic Frequencies of 20 Visible Phenotype Variants in the Korean Population Lim, Ji Eun Oh, Bermseok Genomics Inform Original Article The prediction of externally visible characteristics from DNA has been studied for forensic genetics over the last few years. Externally visible characteristics include hair, skin, and eye color, height, and facial morphology, which have high heritability. Recent studies using genome-wide association analysis have identified genes and variations that correlate with human visible phenotypes and developed phenotype prediction programs. However, most prediction models were constructed and validated based on genotype and phenotype information on Europeans. Therefore, we need to validate prediction models in diverse ethnic populations. In this study, we selected potentially useful variations for forensic science that are associated with hair and eye color, iris pattern, and facial morphology, based on previous studies, and analyzed their frequencies in 1,920 Koreans. Among 20 single nucleotide polymorphisms (SNPs), 10 SNPs were polymorphic, 6 SNPs were very rare (minor allele frequency < 0.005), and 4 SNPs were monomorphic in the Korean population. Even though the usability of these SNPs should be verified by an association study in Koreans, this study provides 10 potential SNP markers for forensic science for externally visible characteristics in the Korean population. Korea Genome Organization 2013-06 2013-06-30 /pmc/articles/PMC3704932/ /pubmed/23843775 http://dx.doi.org/10.5808/GI.2013.11.2.93 Text en Copyright © 2013 by the Korea Genome Organization http://creativecommons.org/licenses/by-nc/3.0/ It is identical to the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/).
spellingShingle Original Article
Lim, Ji Eun
Oh, Bermseok
Allelic Frequencies of 20 Visible Phenotype Variants in the Korean Population
title Allelic Frequencies of 20 Visible Phenotype Variants in the Korean Population
title_full Allelic Frequencies of 20 Visible Phenotype Variants in the Korean Population
title_fullStr Allelic Frequencies of 20 Visible Phenotype Variants in the Korean Population
title_full_unstemmed Allelic Frequencies of 20 Visible Phenotype Variants in the Korean Population
title_short Allelic Frequencies of 20 Visible Phenotype Variants in the Korean Population
title_sort allelic frequencies of 20 visible phenotype variants in the korean population
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3704932/
https://www.ncbi.nlm.nih.gov/pubmed/23843775
http://dx.doi.org/10.5808/GI.2013.11.2.93
work_keys_str_mv AT limjieun allelicfrequenciesof20visiblephenotypevariantsinthekoreanpopulation
AT ohbermseok allelicfrequenciesof20visiblephenotypevariantsinthekoreanpopulation