Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences

Eom, Sang‐Yong; Lim, Ji-Ae; Kim, Yong‐Dae; Choi, Byung-Sun; Hwang, Myung-Sil; Park, Jung-Duck; Kim, Heon; Kwon, Ho-Jang

doi:10.5487/tr.2016.32.3.195

Cited by 11 publications

(5 citation statements)

References 29 publications

(34 reference statements)

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“…The increased use of heavy metals since the industrial revolution has resulted in a predictable increase in the number of patients who are poisoned by them ( 17 , 18 ). Chelation therapy is one way to eliminate these metal ions from biological systems.…”

Section: Discussionmentioning

confidence: 99%

Chelation of Thallium (III) in Rats Using Combined Deferasirox and Deferiprone Therapy

et al. 2017

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Thallium and its compounds are a class of highly toxic chemicals that cause wide-ranging symptoms such as gastrointestinal disturbances; polyneuritis; encephalopathy; tachycardia; skin eruptions; hepatic, renal, cardiac, and neurological toxicities; and have mutagenic and genotoxic effects. The present research aimed to evaluate the efficacy of the chelating agents deferasirox (DFX) and deferiprone (L1) in reducing serum and tissue thallium levels after the administration of thallium (III), according to two different dosing regimens, to several groups of Wistar rats for 60 days. It was hypothesized that the two chelators might be more efficient as a combined therapy than as monotherapies in removing thallium (III) from the rats’ organs. The chelators were administered orally as either single or combined therapies for a period of 14 days. Serum and tissue thallium (III) and iron concentrations were determined by flame atomic absorption spectroscopy. Serum and tissue thallium (III) levels were significantly reduced by combined therapy with DFX and L1. Additionally, iron concentrations returned to normal levels and symptoms of toxicity decreased.

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Section: Discussionmentioning

confidence: 99%

Chelation of Thallium (III) in Rats Using Combined Deferasirox and Deferiprone Therapy

et al. 2017

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“…In the present exome-wide screening analysis, we tested two SNPs (rs1805313 and rs1800435) of ALAD and 5 SNPs (rs2642926, rs3755652, rs4973768, rs75615379, and rs9854207) of SLC4A7 ; however, these SNPs did not achieve the suggestive level of association applied in this study ( P < 1 × 10 −4 ). This discrepancy may be attributed to the ethnic differences in terms of heavy metal levels [ 28 ] and genetic polymorphisms of heavy-metal-related genes [ 29 ]. A meta-analysis suggested that a significant association between ALAD genetic polymorphisms and blood Pb level is limited only to the high-Pb exposure group [ 27 ].…”

Section: Discussionmentioning

confidence: 99%

Exome-wide association study identifies genetic polymorphisms of C12orf51, MYL2, and ALDH2 associated with blood lead levels in the general Korean population

et al. 2017

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BackgroundLead (Pb) is a ubiquitous toxic metal present in the environment that poses adverse health effects to humans. Inter-individual variation in blood Pb levels is affected by various factors, including genetic makeup. However, limited data are available on the association between genetic variation and blood Pb levels. The purpose of this study was to identify the genetic markers associated with blood Pb levels in the Korean population.MethodsThe study subjects consisted of 1,483 healthy adults with no history of occupational exposure to Pb. We measured blood Pb levels and calculated probable daily intake of Pb according to dietary data collected using 24-hour recall. We conducted exome-wide association screening using Illumina Human Exome-12v1.2 platform (n = 500) and a replication analysis using VeraCode Goldengate assay (n = 1,483).ResultsAmong the 244,770 single nucleotide polymorphisms (SNPs) tested, 12 SNPs associated with blood Pb level were identified, with suggestive significance level (P < 1 × 10−4). In the Goldengate assay for replication, three SNPs (C12orf51 rs11066280, MYL2 rs12229654, and ALDH2 rs671) were associated with statistically suggestively significant differences in blood Pb levels. When stratified by drinking status, a potential association of C12orf51 rs11066280, MYL2 rs12229654, and ALDH2 rs671 with blood Pb level was observed only in drinkers. A marginally significant gene-environment interaction between ALDH2 rs671 and alcohol consumption was observed in relation to blood Pb levels. The effects of the three suggestively significant SNPs on blood Pb levels was dependent on daily calcium intake amounts.ConclusionsThis exome-wide association study indicated that C12orf51 rs11066280, MYL2 rs12229654, and ALDH2 rs671 polymorphisms are linked to blood Pb levels in the Korean population. Our results suggest that these three SNPs are involved in the determination of Pb levels in Koreans via the regulation of alcohol drinking behavior, and that their negative effects may be compensated by appropriate calcium intake.Electronic supplementary materialThe online version of this article (doi:10.1186/s12940-017-0220-x) contains supplementary material, which is available to authorized users.

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“…Ethnic differences have been reported in the allele frequencies of SNPs [23][24][25], linkage disequilibrium and polygenic risk scores [26], genetic susceptibilities for neuropsychiatric disorders [27], and neuroimaging phenotypes [28][29][30]. In addition to environmental factors, genetic factors are the main causes for ethnic differences in Table 2 Sex-specific demographic, behavioral and environmental data (n = 5745).…”

Section: Cross-ethnic Differences In Genetic-neuroimaging Associationsmentioning

confidence: 99%

CHIMGEN: a Chinese imaging genetics cohort to enhance cross-ethnic and cross-geographic brain research

Guo

Cheng

et al. 2019

Mol Psychiatry

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The Chinese Imaging Genetics (CHIMGEN) study establishes the largest Chinese neuroimaging genetics cohort and aims to identify genetic and environmental factors and their interactions that are associated with neuroimaging and behavioral phenotypes. This study prospectively collected genomic, neuroimaging, environmental, and behavioral data from more than 7000 healthy Chinese Han participants aged 18-30 years. As a pioneer of large-sample neuroimaging genetics cohorts of non-Caucasian populations, this cohort can provide new insights into ethnic differences in genetic-neuroimaging associations by being compared with Caucasian cohorts. In addition to micro-environmental measurements, this study also collects hundreds of quantitative macro-environmental measurements from remote sensing and national survey databases based on the locations of each participant from birth to present, which will facilitate discoveries of new environmental factors associated with neuroimaging phenotypes. With lifespan environmental measurements, this study can also provide insights on the macro-environmental exposures that affect the human brain as well as their timing and mechanisms of action.

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Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences

Cited by 11 publications

References 29 publications

Chelation of Thallium (III) in Rats Using Combined Deferasirox and Deferiprone Therapy

Chelation of Thallium (III) in Rats Using Combined Deferasirox and Deferiprone Therapy

Exome-wide association study identifies genetic polymorphisms of C12orf51, MYL2, and ALDH2 associated with blood lead levels in the general Korean population

CHIMGEN: a Chinese imaging genetics cohort to enhance cross-ethnic and cross-geographic brain research

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