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Published in: International Journal of Legal Medicine 1/2020

01-01-2020 | Review

Characterization of DNA methylation-based markers for human body fluid identification in forensics: a critical review

Authors: Farzeen Kader, Meenu Ghai, Ademola O. Olaniran

Published in: International Journal of Legal Medicine | Issue 1/2020

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Abstract

Body fluid identification in crime scene investigations aids in reconstruction of crime scenes. Several studies have identified and reported differentially methylated sites (DMSs) and regions (DMRs) which differ between forensically relevant tissues (tDMRs) and body fluids. Diverse factors affect methylation patterns such as the environment, diets, lifestyle, disease, ethnicity, genetic variation, amongst others. Thus, it is important to analyse the stability of markers employed for forensic identification. Furthermore, even though epigenetic modifications are described as stable and heritable, epigenetic inheritance of potential markers for body fluid identification needs to be assessed in the long term. Here, we discuss the current status of reported DNA methylation-based markers and their verification studies. Such thorough investigation is crucial to develop a stable panel of DNA methylation-based markers for accurate body fluid identification.
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Literature
2.
go back to reference Lalruatfela B (2013) On DNA methylation: An introductory review. Science Vision 13:1-7. ISSN (online):2229-6026. Lalruatfela B (2013) On DNA methylation: An introductory review. Science Vision 13:1-7. ISSN (online):2229-6026.
13.
go back to reference Chambers JC, Loh M, Lehne B, Drong A, Kriebel J, Motta V, Wahl S, Elliott HR, Rota F, Scott WR, Zhang W, Tan ST, Campanella G, Chadeau-Hyam M, Yengo L, Richmond RC, Adamowicz-Brice M, Afzal U, Bozaoglu K, Mok ZY, Ng HK, Pattou F, Prokisch H, Rozario MA, Tarantini L, Abbott J, Ala-Korpela M, Albetti B, Ammerpohl O, Bertazzi PA, Blancher C, Caiazzo R, Danesh J, Gaunt TR, de Lusignan S, Gieger C, Illig T, Jha S, Jones S, Jowett J, Kangas AJ, Kasturiratne A, Kato N, Kotea N, Kowlessur S, Pitkäniemi J, Punjabi P, Saleheen D, Schafmayer C, Soininen P, Tai ES, Thorand B, Tuomilehto J, Wickremasinghe AR, Kyrtopoulos SA, Aitman TJ, Herder C, Hampe J, Cauchi S, Relton CL, Froguel P, Soong R, Vineis P, Jarvelin MR, Scott J, Grallert H, Bollati V, Elliott P, McCarthy M, Kooner JS (2015) Epigenome-wide association of DNA methylation markers in peripheral blood from Indian Asians and Europeans with incident type 2 diabetes: a nested case-control study. Lancet Diabetes Endocrinol 3(7):526–534. https://doi.org/10.1016/S2213-8587(15)00127-8 CrossRefPubMedPubMedCentral Chambers JC, Loh M, Lehne B, Drong A, Kriebel J, Motta V, Wahl S, Elliott HR, Rota F, Scott WR, Zhang W, Tan ST, Campanella G, Chadeau-Hyam M, Yengo L, Richmond RC, Adamowicz-Brice M, Afzal U, Bozaoglu K, Mok ZY, Ng HK, Pattou F, Prokisch H, Rozario MA, Tarantini L, Abbott J, Ala-Korpela M, Albetti B, Ammerpohl O, Bertazzi PA, Blancher C, Caiazzo R, Danesh J, Gaunt TR, de Lusignan S, Gieger C, Illig T, Jha S, Jones S, Jowett J, Kangas AJ, Kasturiratne A, Kato N, Kotea N, Kowlessur S, Pitkäniemi J, Punjabi P, Saleheen D, Schafmayer C, Soininen P, Tai ES, Thorand B, Tuomilehto J, Wickremasinghe AR, Kyrtopoulos SA, Aitman TJ, Herder C, Hampe J, Cauchi S, Relton CL, Froguel P, Soong R, Vineis P, Jarvelin MR, Scott J, Grallert H, Bollati V, Elliott P, McCarthy M, Kooner JS (2015) Epigenome-wide association of DNA methylation markers in peripheral blood from Indian Asians and Europeans with incident type 2 diabetes: a nested case-control study. Lancet Diabetes Endocrinol 3(7):526–534. https://​doi.​org/​10.​1016/​S2213-8587(15)00127-8 CrossRefPubMedPubMedCentral
21.
go back to reference van Dongen J, Nivard MG, Willemsen G, Hottenga JJ, Helmer Q, Dolan CV, Ehli EA, Davies GE, van Iterson M, Breeze CE, Beck S, BIOS Consortium, Suchiman HE, Jansen R, van Meurs J, Heijmans BT, Slagboom PE, Boomsma DI (2016) Genetic and environmental influences interact with age and sex in shaping the human methylome. Nat Commun 7:11115. https://doi.org/10.1038/ncomms11115 CrossRefPubMedPubMedCentral van Dongen J, Nivard MG, Willemsen G, Hottenga JJ, Helmer Q, Dolan CV, Ehli EA, Davies GE, van Iterson M, Breeze CE, Beck S, BIOS Consortium, Suchiman HE, Jansen R, van Meurs J, Heijmans BT, Slagboom PE, Boomsma DI (2016) Genetic and environmental influences interact with age and sex in shaping the human methylome. Nat Commun 7:11115. https://​doi.​org/​10.​1038/​ncomms11115 CrossRefPubMedPubMedCentral
23.
go back to reference Perrier F, Viallon V, Ambatipudi S, Ghantous A, Cuenin C, Hernandez-Vargas H, Chajès V, Baglietto L, Matejcic M, Moreno-Macias H, Kühn T, Boeing H, Karakatsani A, Kotanidou A, Trichopoulou A, Sieri S, Panico S, Fasanelli F, Dolle M, Onland-Moret C, Sluijs I, Weiderpass E, Quirós JR, Agudo A, Huerta JM, Ardanaz E, Dorronsoro M, Tong TYN, Tsilidis K, Riboli E, Gunter MJ, Herceg Z, Ferrari P, Romieu I (2019) Association of leukocyte DNA methylation changes with dietary folate and alcohol intake in the EPIC study. Clin Epigenetics 11(1):57. https://doi.org/10.1186/s13148-019-0637-x CrossRefPubMedPubMedCentral Perrier F, Viallon V, Ambatipudi S, Ghantous A, Cuenin C, Hernandez-Vargas H, Chajès V, Baglietto L, Matejcic M, Moreno-Macias H, Kühn T, Boeing H, Karakatsani A, Kotanidou A, Trichopoulou A, Sieri S, Panico S, Fasanelli F, Dolle M, Onland-Moret C, Sluijs I, Weiderpass E, Quirós JR, Agudo A, Huerta JM, Ardanaz E, Dorronsoro M, Tong TYN, Tsilidis K, Riboli E, Gunter MJ, Herceg Z, Ferrari P, Romieu I (2019) Association of leukocyte DNA methylation changes with dietary folate and alcohol intake in the EPIC study. Clin Epigenetics 11(1):57. https://​doi.​org/​10.​1186/​s13148-019-0637-x CrossRefPubMedPubMedCentral
26.
go back to reference Tsaprouni LG, Yang TP, Bell J, Dick KJ, Kanoni S, Nisbet J, Viñuela A, Grundberg E, Nelson CP, Meduri E, Buil A, Cambien F, Hengstenberg C, Erdmann J, Schunkert H, Goodall AH, Ouwehand WH, Dermitzakis E, Spector TD, Samani NJ, Deloukas P (2014) Cigarette smoking reduces DNA methylation levels at multiple genomic loci but the effect is partially reversible upon cessation. Epigenetics. 9(10):1382–1396. https://doi.org/10.4161/15592294.2014.969637 CrossRefPubMedPubMedCentral Tsaprouni LG, Yang TP, Bell J, Dick KJ, Kanoni S, Nisbet J, Viñuela A, Grundberg E, Nelson CP, Meduri E, Buil A, Cambien F, Hengstenberg C, Erdmann J, Schunkert H, Goodall AH, Ouwehand WH, Dermitzakis E, Spector TD, Samani NJ, Deloukas P (2014) Cigarette smoking reduces DNA methylation levels at multiple genomic loci but the effect is partially reversible upon cessation. Epigenetics. 9(10):1382–1396. https://​doi.​org/​10.​4161/​15592294.​2014.​969637 CrossRefPubMedPubMedCentral
44.
go back to reference Eckhardt F, Lewin J, Cortese R, Rakyan VK, Attwood J, Burger M, Burton J, Cox TV, Davies R, Down TA, Haefliger C, Horton R, Howe K, Jackson DK, Kunde J, Koenig C, Liddle J, Niblett D, Otto T, Pettett R, Seemann S, Thompson C, West T, Rogers J, Olek A, Berlin K, Beck S (2006) DNA methylation profiling of human chromosomes 6, 20 and 22. Nature Genet 38:1378–1385. https://doi.org/10.1038/ng1909 CrossRefPubMed Eckhardt F, Lewin J, Cortese R, Rakyan VK, Attwood J, Burger M, Burton J, Cox TV, Davies R, Down TA, Haefliger C, Horton R, Howe K, Jackson DK, Kunde J, Koenig C, Liddle J, Niblett D, Otto T, Pettett R, Seemann S, Thompson C, West T, Rogers J, Olek A, Berlin K, Beck S (2006) DNA methylation profiling of human chromosomes 6, 20 and 22. Nature Genet 38:1378–1385. https://​doi.​org/​10.​1038/​ng1909 CrossRefPubMed
89.
go back to reference Rogozin IB, Pavlov YI (2003) Theoretical analysis of mutation hotspots and their DNA sequence context specificity. Mutat Res 544(1):65–85CrossRef Rogozin IB, Pavlov YI (2003) Theoretical analysis of mutation hotspots and their DNA sequence context specificity. Mutat Res 544(1):65–85CrossRef
97.
go back to reference Duret L, Semon M, Piganeau G, Mouchiroud D, Galtier N (2002) Vanishing GC-rich isochores in mammalian genomes. Genetics 162:1837–1847 PMC1462357PubMedPubMedCentral Duret L, Semon M, Piganeau G, Mouchiroud D, Galtier N (2002) Vanishing GC-rich isochores in mammalian genomes. Genetics 162:1837–1847 PMC1462357PubMedPubMedCentral
100.
go back to reference Nachman MW, Crowell SL (2000) Estimate of the mutation rate per nucleotide in humans. Genetics 156:297–304 PMC1461236PubMedPubMedCentral Nachman MW, Crowell SL (2000) Estimate of the mutation rate per nucleotide in humans. Genetics 156:297–304 PMC1461236PubMedPubMedCentral
105.
go back to reference Ng PC, Levy S, Huang J, Stockwell TB, Walenz BP, Li K, Axelrod N, Busam DA, Strausberg RL, Venter JC (2008) Genetic Variation in an Individual Human Exome. PLoS Genetics 4(8):e1000160CrossRef Ng PC, Levy S, Huang J, Stockwell TB, Walenz BP, Li K, Axelrod N, Busam DA, Strausberg RL, Venter JC (2008) Genetic Variation in an Individual Human Exome. PLoS Genetics 4(8):e1000160CrossRef
119.
go back to reference Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy M, Ramos EM, Cardon LR, Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D, Whittemore AS, Boehnke M, Clark AG, Eichler EE, Gibson G, Haines JL, Mackay TF, McCarroll S, Visscher PM (2009) Finding the missing heritability of complex diseases. Nature 461:747–753. https://doi.org/10.1038/nature08494 CrossRefPubMedPubMedCentral Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy M, Ramos EM, Cardon LR, Chakravarti A, Cho JH, Guttmacher AE, Kong A, Kruglyak L, Mardis E, Rotimi CN, Slatkin M, Valle D, Whittemore AS, Boehnke M, Clark AG, Eichler EE, Gibson G, Haines JL, Mackay TF, McCarroll S, Visscher PM (2009) Finding the missing heritability of complex diseases. Nature 461:747–753. https://​doi.​org/​10.​1038/​nature08494 CrossRefPubMedPubMedCentral
121.
go back to reference Bell JT, Tsai PC, Yang TP, Pidsley R, Nisbet J, Glass D, Mangino M, Zhai G, Zhang F, Valdes A, Shin SY, Dempster EL, Murray RM, Grundberg E, Hedman AK, Nica A, Small KS, MuTHER Consortium, Dermitzakis ET, McCarthy M, Mill J, Spector TD, Deloukas P (2012) Epigenome-wide scans identify differentially methylated regions for age and age-related phenotypes in a healthy ageing population. PLoS Genetics 8(4):e1002629. https://doi.org/10.1371/journal.pgen.1002629 CrossRefPubMedPubMedCentral Bell JT, Tsai PC, Yang TP, Pidsley R, Nisbet J, Glass D, Mangino M, Zhai G, Zhang F, Valdes A, Shin SY, Dempster EL, Murray RM, Grundberg E, Hedman AK, Nica A, Small KS, MuTHER Consortium, Dermitzakis ET, McCarthy M, Mill J, Spector TD, Deloukas P (2012) Epigenome-wide scans identify differentially methylated regions for age and age-related phenotypes in a healthy ageing population. PLoS Genetics 8(4):e1002629. https://​doi.​org/​10.​1371/​journal.​pgen.​1002629 CrossRefPubMedPubMedCentral
Metadata
Title
Characterization of DNA methylation-based markers for human body fluid identification in forensics: a critical review
Authors
Farzeen Kader
Meenu Ghai
Ademola O. Olaniran
Publication date
01-01-2020
Publisher
Springer Berlin Heidelberg
Published in
International Journal of Legal Medicine / Issue 1/2020
Print ISSN: 0937-9827
Electronic ISSN: 1437-1596
DOI
https://doi.org/10.1007/s00414-019-02181-3

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