Small de novo CNVs as biomarkers of parental exposure to low doses of ionizing radiation of caesium-137

Costa, Emília Oliveira Alves; Pinto, Irene Plaza; Gonçalves, Macks Wendhell; Silva, Juliana Ferreira da; Oliveira, Lorraynne Guimarães; Cruz, Alex Silva da; Silva, Daniela de Melo e; Silva, Cláudio Carlos da; Pereira, Rinaldo Wellerson; Cruz, Aparecido Divino da

doi:10.1038/s41598-018-23813-5

Cited by 21 publications

(24 citation statements)

References 54 publications

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“…The current study establishes a pioneering application of SNP data analysis to identify MD and estimate germline mutations in the offspring of humans accidentally exposed to low absorbed doses of IR. Current findings corroborate our first study reporting the usefulness of small CNVs to estimate de novo human germline mutation rates in the same subjects [13]. Mean TM DM (± SD) 6.3 x 10 -4 (± 2.0 x 10 -4 ) 4.3 x 10 -4 (± 9.2 x 10 -5 ) Data from the study on the induction of Mendelian errors in offspring autosomes of people accidentally exposed to low doses of Cs-137 ionizing radiation.…”

Section: Resultssupporting

confidence: 90%

“…MD estimates were used to estimate the germline mutation rate (TM DM ) in the offspring, using equation 1: [13,33] = ∑ N !x ℎ…”

Section: Analysis Of Genotyping Data To Identify Mendelian Deviationsmentioning

confidence: 99%

“…Moreover, in order to understand the effect of IR on the induction of germ line mutation rates on STR markers [12] have also been determined. More recently, CNVs have been used as biomarkers for parental exposure to demonstrate the effect of low absorbed doses of IR on germline mutations in the cohort's offspring conceived after the accident [13].…”

Section: Introductionmentioning

confidence: 99%

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Deviation from mendelian transmission of autosomal SNPs can be used to estimate germline mutations in humans exposed to ionizing radiation

Filho

Pinto

Oliveira

et al. 2020

Preprint

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We aimed to estimate the rate of germline mutations in the offspring of individuals accidentally exposed to Cesium-137 ionizing radiation. Performed analysis considered two distinct groups: a group males and females accidentally exposed to low doses of ionizing radiation from Cs 137 , the case group, and a control group of non-exposed participants. The case group included 37 participants (11 couples and 15 children born after the accident). The dose absorbed by exposed participants ranged from 0.2 to 0.5 Gray. The control group included 15 families from the state of Goiás, with no history of radiation exposure. DNA samples from peripheral blood were analyzed with the Affymetrix GeneChip ® CytoScanHD ™ to assess de novo SNP-type mutations. A set of scripts previously developed was used to detect de novo mutations by comparing parent and offspring genotypes in each SNP marker. Overall numbers of observed Mendelian 2 deviations were statistically significant between the exposed and control groups.Offspring from the population accidentally exposed to low IR doses showed ~ 46.5% more de novo Mendelian deviations than the control group. Parent-of-origin and type of nucleotide substitution were also inferred. Estimates of age-adjusted de novo germline mutation rates were obtained and correlated to Cs-137 radiation dose exposure to evaluate the usefulness of the rate of Mendelian deviations observed in polymorphic SNPs as a biomarker for exposure. This proved useful in a retrospective estimation of the rate of de novo germline mutations in a human population accidentally exposed to low doses of radiation from Cs-137. Obtained results suggest that observed burden of germline mutations identified in offspring could potentially be a useful biomarker to estimate levels of parental exposure to ionizing radiation.

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Section: Resultssupporting

confidence: 90%

“…MD estimates were used to estimate the germline mutation rate (TM DM ) in the offspring, using equation 1: [13,33] = ∑ N !x ℎ…”

Section: Analysis Of Genotyping Data To Identify Mendelian Deviationsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Deviation from mendelian transmission of autosomal SNPs can be used to estimate germline mutations in humans exposed to ionizing radiation

Filho

Pinto

Oliveira

et al. 2020

Preprint

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“…Also, these children could have the germ line mutation, which remains for several generations. Copy number variation (CNV), and especially genomic losses, confirm that the biomarker of parent exposure can be inherited by children even when exposure rates are low 40 .…”

Section: Discussionmentioning

confidence: 99%

Cancer incidence in the cohort exposed to Cesium-137 accident in Goiânia (Brazil) in 1987

et al. 2019

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Objetivo: descrever a incidência de casos de câncer nas vítimas diretas do acidente Grupo I e II e comparar com as taxas de incidência de câncer na população de Goiânia. Método: Estudo descritivo da coorte de pacientes diretamente expostos e contaminados (Grupos I e II), no acidente com Césio 137, ocorrido em Goiânia (Brasil), em 1987. Descrevemos os casos incidentes de neoplasia maligna diagnosticados no período entre 1988 e 2017. Foram calculados a razão das taxas de incidência e os intervalos de confiança de 95% (IC95%), segundo o sexo na população de estudo. Resultados: No período de 30 anos (1987-2017), ocorreram sete casos de câncer, em seis vítimas diretas do acidente pelo césio-137. Desses, cinco ocorreram em homens (esôfago [1], próstata [3] e bexiga [1]) e dois, em mulheres (mama [1] e melanoma da pele [1]). As taxas de incidência acumulada nas vítimas diretas do Césio-137 foram de 327,9/100,000 entre homens e de 148,6/100,000 entre as mulheres. Na população de Goiânia, as taxas foram de 221,4/100,000 e 231,2/100,000 em homens e mulheres, respectivamente. As razões das taxas de incidência bruta (vítimas diretas do Césio-137/população de Goiânia) foram 1,5 (IC95%:0,4;5,9) em homens e 0,6 (IC95%:0,1;3,8) em mulheres, não houve diferenças estatisticamente significativas. Conclusão: A incidência de câncer nas vítimas diretas do acidente pelo Césio 137 (Grupos I e II), segundo o sexo, não foi diferente da população não exposta ao Césio-137 do município de Goiânia; portanto, o risco de câncer foi semelhante ao da população geral do Município de Goiânia.

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“…However, SNP-based arrays can also be applied to monitor individuals exposed to ionizing radiation, and it has been proven to be a useful strategy to evaluate potential health risks related to environmental mutagens. Costa et al [85] presented results of the analysis of the effect of accidental exposure to low doses of ionizing radiation on the formation of de novo, nonrecurrent CNVs in the progeny of a human population accidentally exposed to cesium-137 during the radiological accident in Goiânia, Brazil. The high-density SNP array used in that study allowed the observation of de novo mutations induced in the germ line of parents exposed to very low doses of ionizing radiation.…”

Section: Application In Research: From Mutagenesis To Pharmacogenomicsmentioning

confidence: 99%

Cytogenomic Microarray Testing

Pinto¹,

Cruz²,

Costa³

et al. 2019

Cytogenetics - Past, Present and Further Perspectives

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Cytogenomic microarray testing allows the detection of submicroscopic genomic rearrangements, commonly denominated copy number variations (CNVs) that are implicated with many neurodevelopmental disorders, dysmorphic features, multiple congenital anomalies, hematological and solid tumors, and complex disorders and traits in both humans and animals. On the other hand, this approach is also widely used for the identification of structural variations that are applied as a biomarker in pharmacogenomics, agriculture, and animal selection and breeding. The chromosomal microarray analysis (CMA) has been applied for over a decade to screen for submicroscopic genomic gains and losses in DNA sample in both diagnostic and functional scenarios. Herein, we present an overview of the fundamental concepts of cytogenomics and its potential application in human genetic diagnosis, agrigenomics, mutagenesis, and pharmacogenomics.

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Small de novo CNVs as biomarkers of parental exposure to low doses of ionizing radiation of caesium-137

Cited by 21 publications

References 54 publications

Deviation from mendelian transmission of autosomal SNPs can be used to estimate germline mutations in humans exposed to ionizing radiation

Deviation from mendelian transmission of autosomal SNPs can be used to estimate germline mutations in humans exposed to ionizing radiation

Cancer incidence in the cohort exposed to Cesium-137 accident in Goiânia (Brazil) in 1987

Cytogenomic Microarray Testing

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