Crime investigation through DNA methylation analysis: methods and applications in forensics

Rana, Ajay Kumar

doi:10.1186/s41935-018-0042-1

Cited by 18 publications

(14 citation statements)

References 180 publications

(175 reference statements)

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“…Dysregulation of DNAm has been observed in numerous diseases and consequently testing methylation patterns may have clinical value [1][2][3]. Moreover, the usefulness of DNAm analysis has also been recognized in forensic (epi)genetics, and practical forensic applications include identification of body fluids [4,5], authentication of DNA samples [6,7], differentiation of monozygotic twins [8,9], prediction of lifestyle habits such as smoking and other forensically relevant extrinsic factors [10,11], and in particular, the use of DNAm patterns to predict a person's age [12][13][14].…”

Section: Introductionmentioning

confidence: 99%

Epigenetic age prediction in semen – marker selection and model development

Pisarek

Pośpiech

Heidegger

et al. 2021

Aging

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DNA methylation analysis is becoming increasingly useful in biomedical research and forensic practice. The discovery of differentially methylated sites (DMSs) that continuously change over an individual's lifetime has led to breakthroughs in molecular age estimation. Although semen samples are often used in forensic DNA analysis, previous epigenetic age prediction studies mainly focused on somatic cell types. Here, Infinium MethylationEPIC BeadChip arrays were applied to semen-derived DNA samples, which identified numerous novel DMSs moderately correlated with age. Validation of the ten most age-correlated novel DMSs and three previously known sites in an independent set of semen-derived DNA samples using targeted bisulfite massively parallel sequencing, confirmed age-correlation for nine new and three previously known markers. Prediction modelling revealed the best model for semen, based on 6 CpGs from newly identified genes SH2B2, EXOC3, IFITM2, and GALR2 as well as the previously known FOLH1B gene, which predict age with a mean absolute error of 5.1 years in an independent test set. Further increases in the accuracy of age prediction from semen DNA will require technological progress to allow sensitive, simultaneous analysis of a much larger number of age correlated DMSs from the compromised DNA typical of forensic semen stains.

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Section: Introductionmentioning

confidence: 99%

Epigenetic age prediction in semen – marker selection and model development

Pisarek

Pośpiech

Heidegger

et al. 2021

Aging

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“…In line with the increasing age, DNA hypomethylation increases in the distribution of the genome (affecting intronic, exonic, promoters, and intergenic regions) or, in other words, the global level of methylated genomic DNA decreases as a person is aging (Wilson et al 1987). However, DNA methylation is also susceptible to reproducibility variation in the assays according to the type of tissue used in the analysis, because some of the 5mC methylation marks in DNA are specific (Rana 2018). To scrutinize further on DNA methylation in different types of tissue, Horvath (2013) developed a multi-tissue age predictor, which allowed estimating the DNA methylation age in most tissues.…”

Section: Discussionmentioning

confidence: 99%

Age estimation using DNA methylation technique in forensics: a systematic review

Maulani

Auerkari

2020

Egypt J Forensic Sci

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Background In addition to the DNA sequence, epigenetic markers have become substantial forensic tools during the last decade. Estimating the age of an individual from human biological remains may provide information for a forensic investigation. Age estimation in molecular strategies can be obtained by telomere length, mRNa mutation, or by sjTRECs but the accuracy is not sufficient in forensic practice because of high margin error. Main body One solution to this problem is to use DNA methylation methods. DNA methylation markers for tissue identification at age-associated CpG sites have been suggested as the most informative biomarkers for estimating the age of an unknown donor. This review aims to give an overview of DNA methylation profiling for estimating the age in cases of forensic relevance and the important aspects in determining the mean absolute deviation (MAD) or mean absolute error (MAE) of the estimated age. Online database searching was performed through PubMed, Scopus, and Google Scholar with keywords selected for forensic age estimation. Thirty-two studies were included in the review, with variable DNA samples but blood commonly as a source. Pyrosequencing and EpiTYPER were methods mostly used in DNA analysis. The MAD in the estimates from DNA methylation was about 3 to 5 years, which was better than other methods such as those based on telomere length or signal-joint T-cell receptor excision circles. The ELOVL2 gene was a commonly used DNA methylation marker in age estimation. Conclusion DNA methylation is a favorable candidate for estimating the age at the time of death in forensic profiling, with an uncertainty mean absolute deviation of about 3 to 5 years in the predicted age. The sample type, platform techniques used, and methods to construct age predictive models were important in determining the accuracy in mean absolute deviation or mean absolute error. The DNA methylation outcome suggests good potential to support conventional STR profiling in forensic cases.

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“…This is due to the hyper or hypofunctional expression of genes during the intensive growth of the body in the pre-pubertal and early pubertal periods, the presence of chronic diseases (bronchial asthma, multiple sclerosis, epilepsy, diabetes mellitus, cancer, etc. ), normal gerontological processes, or the presence of alcoholic nicotine dependence and others [Horvath 2013;Rana 2018;Freire-Aradas 2018]. Deviations in the change in the methylation pro le from the linear trend for biological age associated with the growth and aging of the organism are most pronounced before 25 and after 60 years.…”

Section: Introductionmentioning

confidence: 99%

Specifics of Determination of Human Biological Age by Blood Samples Using Epigenetic Markers

Kipen

Bahdanava

Буракова

et al. 2021

Preprint

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Our research focused on the selection of already known markers, as well as the search for other infonormative markers based on data made publicly available on the GEO NCBI platform (genome-wide DNA methylation projects using the Infinium Human Methylation 450K BeadChip (Illumina ©)). The main objective of the study was to demonstrate that the accuracy of determining the biological age of a person in the presence of chronic diseases using linear-dependent methylation markers is comparable to the accuracy of determining the biological age of a healthy person. Criminologists, as a rule, do not have information about the chronic diseases of a person who has left a biological trace at the scene (blood, for example). However, the lack of this information, as we have shown for a some of diseases, does not play a critical role in the precise determination of biological age. Additionally, an obstacle was removed when transferring the information content of markers from Infinium Human Methylation 450K BeadChip chips to SNaPshot technology. The analysis was carried out on a sample of 236 Belarusians, for whom the methylation profile for 7 Cpg markers is presented. It is shown that the information content of markers is preserved Our analysis shows the possibility of creating the universal test system for predicting biological age according to marker methylation. The system can be used in the work of the most criminalist in the world with the same task.

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Crime investigation through DNA methylation analysis: methods and applications in forensics

Cited by 18 publications

References 180 publications

Epigenetic age prediction in semen – marker selection and model development

Epigenetic age prediction in semen – marker selection and model development

Age estimation using DNA methylation technique in forensics: a systematic review

Specifics of Determination of Human Biological Age by Blood Samples Using Epigenetic Markers

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