title: Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences.
abstract: This study was performed to select single nucleotide polymorphisms (SNPs) related to the body burden of heavy metals in Koreans, to provide Korean allele frequencies of selected SNPs, and to assess the difference in allele frequencies with other ethnicities. The candidate-gene approach method and genome-wide association screening were used to select SNPs related to the body burden of heavy metals. Genotyping analysis of the final 192 SNPs selected was performed on 1,483 subjects using the VeraCode Goldengate assay. Allele frequencies differences and genetic differentiations between the Korean population and Chinese (CHB), Japanese (JPT), Caucasian (CEU), and African (YIR) populations were tested by Fisher's exact test and fixation index (F ST), respectively. The Korean population was genetically similar to the CHB and JPT populations (F ST < 0.05, for all SNPs in both populations). However, a significant difference in the allele frequencies between the Korean and CEU and YIR populations were observed in 99 SNPs (60.7%) and 120 SNPs (73.6%), respectively. Ten (6.1%) and 26 (16.0%) SNPs had genetic differentiation (F ST > 0.05) among the Korean-CEU and Korean-YIR comparisons, respectively. The SNP with the largest F ST value between the Korean and African populations was cystathionine-β-synthase rs234709 (F ST: KOR-YIR, 0.309; KOR-CEU, 0.064). Our study suggests that interethnic differences exist in SNPs associated with heavy metals of Koreans, and it should be considered in future studies that address ethnic differences in heavy-metal concentrations in the body and genetic susceptibility to the body burden of heavy metals.
authors.affiliation: Department of Preventive Medicine, College of Medicine, Chungbuk National University, Cheongju, Korea.
authors.forename: Sang-Yong
authors.initials: SY
authors.lastname: Eom
authors.affiliation: Department of Preventive Medicine, Dankook University College of Medicine, Cheonan, Korea.
authors.forename: Ji-Ae
authors.initials: JA
authors.lastname: Lim
authors.affiliation: Department of Preventive Medicine, College of Medicine, Chungbuk National University, Cheongju, Korea.
authors.forename: Yong-Dae
authors.initials: YD
authors.lastname: Kim
authors.affiliation: Department of Preventive Medicine, Chung-Ang University College of Medicine, Seoul, Korea.
authors.forename: Byung-Sun
authors.initials: BS
authors.lastname: Choi
authors.affiliation: Food Risk Analysis Division, National Institute of Food and Drug Safety Evaluation, Cheongju, Korea.
authors.forename: Myung Sil
authors.initials: MS
authors.lastname: Hwang
authors.affiliation: Department of Preventive Medicine, Chung-Ang University College of Medicine, Seoul, Korea.
authors.forename: Jung-Duck
authors.initials: JD
authors.lastname: Park
authors.affiliation: Department of Preventive Medicine, College of Medicine, Chungbuk National University, Cheongju, Korea.
authors.forename: Heon
authors.initials: H
authors.lastname: Kim
authors.affiliation: Department of Preventive Medicine, Dankook University College of Medicine, Cheonan, Korea.
authors.forename: Ho-Jang
authors.initials: HJ
authors.lastname: Kwon
keywords: Gene frequency; Genetic diversity; Metals; Single nucleotide polymorphism