Exploring the potential of genetic analysis in historical blood spots for patients with iodine-deficient goiter and thyroid carcinomas in Switzerland and Germany (1929-1989).
DNA quantity and quality
Feasibility study
Genetic analysis
Goiter imprints
Historical dried blood spots
Journal
BMC medical genomics
ISSN: 1755-8794
Titre abrégé: BMC Med Genomics
Pays: England
ID NLM: 101319628
Informations de publication
Date de publication:
28 Jun 2024
28 Jun 2024
Historique:
received:
14
09
2023
accepted:
21
06
2024
medline:
29
6
2024
pubmed:
29
6
2024
entrez:
29
6
2024
Statut:
epublish
Résumé
Iodine deficiency-induced goiter continues to be a global public health concern, with varying manifestations based on geography, patient's age, and sex. To gain insights into clinical occurrences, a retrospective study analyzed medical records from patients with iodine deficiency-induced goiter or thyroid cancer who underwent surgery at the Community Hospital in Riehen, Switzerland, between 1929 and 1989. Despite today's adequate iodine supplementation, a significant risk for iodine-independent goiter remains in Switzerland, suggesting that genetic factors, among others, might be involved. Thus, a pilot study exploring the feasibility of genetic analysis of blood spots from these medical records was conducted to investigate and enhance the understanding of goiter development, potentially identify genetic variations, and explore the influence of dietary habits and other environmental stimuli on the disease.Blood prints from goiter patients' enlarged organs were collected per decade from medical records. These prints had been made by pressing, drawing, or tracing (i.e., pressed and drawn) the removed organs onto paper sheets. DNA analysis revealed that its yields varied more between the prints than between years. A considerable proportion of the samples exhibited substantial DNA degradation unrelated to sample collection time and DNA mixtures of different contributors. Thus, each goiter imprint must be individually evaluated and cannot be used to predict the success rate of genetic analysis in general. Collecting a large sample or the entire blood ablation for genetic analysis is recommended to mitigate potential insufficient DNA quantities. Researchers should also consider degradation and external biological compounds' impact on the genetic analysis of interest, with the dominant contributor anticipated to originate from the patient's blood.
Identifiants
pubmed: 38943113
doi: 10.1186/s12920-024-01947-y
pii: 10.1186/s12920-024-01947-y
doi:
Substances chimiques
Iodine
9679TC07X4
Types de publication
Journal Article
Historical Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
171Informations de copyright
© 2024. The Author(s).
Références
Delange F. The disorders induced by iodine deficiency. Thyroid. 1994;4:107–28. https://doi.org/10.1089/thy.1994.4.107
doi: 10.1089/thy.1994.4.107
pubmed: 8054857
Andersson M, Herter-Aeberli I. Jodstatus in Der Schweizer Bevölkerung. Schweizer Ernährungsbulletin. 2019;1:22. https://doi.org/10.24444/blv-2018-0111
doi: 10.24444/blv-2018-0111
Szinnai G, Jodmangels F. Jod – Das Spurenelement als Schlüssel für normale Entwicklung Und Wachstum. Paediatrica. 2018;29:18–20.
Zimmermann MB, Jooste PL, Pandav CS. Iodine-deficiency disorders. Lancet. 2008;372:1251–62. https://doi.org/10.1016/S0140-6736(08)61005-3
doi: 10.1016/S0140-6736(08)61005-3
pubmed: 18676011
Delange F, Burgi H. Iodine deficiency disorders in Europe. Bull World Health Organ. 1989;67:317–25.
pubmed: 2670299
pmcid: 2491245
Zimmermann MB. Iodine deficiency. Endocr Rev. 2009;30:376–408. https://doi.org/10.1210/er.2009-0011
doi: 10.1210/er.2009-0011
pubmed: 19460960
Zimmermann MB. Iodine and Iodine Deficiency Disorders. Present Knowledge in Nutrition: Tenth Edition. 2012. pp. 554–67. https://doi.org/10.1002/9781119946045.ch36
Basil S. Hetzel. The story of iodine deficiency: an international challenge in nutrition. New York: Oxford University Press; 1989.
Andersson M, de Benoist B, Darnton-Hill I, Delange F, editors. Iodine deficiency in Europe. A continuing public health problem. World Health Organization (WHO Library Cataloguing-in-Publication Data). Published jointly with Unicef.2007;1–86.
Zimmermann MB. Research on iodine deficiency and goiter in the 19th and early 20th centuries. J Nutr. 2008;138:2060–3. https://doi.org/10.1093/jn/138.11.2060
doi: 10.1093/jn/138.11.2060
pubmed: 18936198
Kapil U. Health consequences of iodine deficiency. Sultan Qaboos Univ Med J. 2007;7:267–72.
pubmed: 21748117
pmcid: 3074887
Zimmermann MB, Boelaert K. Iodine deficiency and thyroid disorders. Lancet Diabetes Endocrinol. 2015;3:286–95. https://doi.org/10.1016/S2213-8587(14)70225-6
doi: 10.1016/S2213-8587(14)70225-6
pubmed: 25591468
Brix TH, Kyvik KO, Hegedüs L. Major role of genes in the etiology of simple goiter in females: a population-based twin study. J Clin Endocrinol Metab. 1999;84:3071–5. https://doi.org/10.1210/jcem.84.9.5958
doi: 10.1210/jcem.84.9.5958
pubmed: 10487667
Brix TH, Hegedus L. Genetic and environmental factors in the aetiology of simple goitre. Ann Med. 2000;32:153–6. https://doi.org/10.3109/07853890008998821
doi: 10.3109/07853890008998821
pubmed: 10821321
Knudsen N, Brix TH. Genetic and non-iodine-related factors in the aetiology of nodular goitre. Best Pract Res Clin Endocrinol Metab. 2014;28:495–506. https://doi.org/10.1016/j.beem.2014.02.005
doi: 10.1016/j.beem.2014.02.005
pubmed: 25047201
Agarwal S, Bychkov A, Jung CK. Emerging biomarkers in thyroid practice and research. Cancers. 2022;14:5–25. https://doi.org/10.3390/cancers14010204
doi: 10.3390/cancers14010204
Sniezek JC, Francis TB. Inflammatory thyroid disorders. Otolaryngol Clin North Am. 2003;36:55–71. https://doi.org/10.1016/s0030-6665(02)00133-0
doi: 10.1016/s0030-6665(02)00133-0
pubmed: 12803009
Yildirim Simsir I, Cetinkalp S, Kabalak T. Review of factors contributing to nodular goiter and thyroid carcinoma. Med Principles Pract. 2020;29(1):1–5. https://doi.org/10.1159/000503575
doi: 10.1159/000503575
Ann Liebert M, Lind P, Langsteger W, Molnar M, Gallowitsch H, Mikosch P, et al. Epidemiology of thyroid diseases in Iodine Sufficiency. Official J Am Thyroid Association 01 Dec. 1998;8(12):1179–83. https://doi.org/10.1089/thy.1998.8.1179
doi: 10.1089/thy.1998.8.1179
Antonelli A, Ferrari SM, Corrado A, Di Domenicantonio A, Fallahi P. Autoimmune thyroid disorders. Autoimmun Rev. 2015;14(2):174–80. https://doi.org/10.1016/j.autrev.2014.10.016
doi: 10.1016/j.autrev.2014.10.016
pubmed: 25461470
Braham E, Rejeb H, Ben, Marghli A, Kilani T, Mezni F, El. A rare and particular form of goiter to recognize. Ann Transl Med. 2013;1. https://doi.org/10.3978/j.issn.2305-5839.2013.01.10
Knudsen N, Laurberg P, Perrild H, Bülow I, Ovesen L, Jørgensen T. Risk factors for goiter and thyroid nodules. Thyroid. 2002;12(10):879–88. https://doi.org/10.1089/10507250276101650
doi: 10.1089/10507250276101650
pubmed: 12487770
Gaitan E, Nelson NC, Poole GV. Endemic goiter and endemic thyroid disorders. World J Surg. 1991 Mar-Apr;15(2):205–15. https://doi.org/10.1007/BF01659054
Lamberg B-A. Endemic Goitre-Iodine Deficiency disorders. Ann Med. 1991;23(4):367–72. https://doi.org/10.3109/07853899109148075
doi: 10.3109/07853899109148075
pubmed: 1718324
Böttcher Y, Eszlinger M, Tönjes A, Paschke R. The genetics of euthyroid familial goiter. Trends Endocrinol Metabolism. 2005;16(7):314–9. https://doi.org/10.1016/j.tem.2005.07.003
doi: 10.1016/j.tem.2005.07.003
Bignell GR, Canzian F, Shayeghi M, Stark M, Shugart YY, Biggs P, et al. Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid Cancer. Am J Hum Genet. 1997;61(5):1123–30. https://doi.org/10.1086/301610
doi: 10.1086/301610
pubmed: 9345104
pmcid: 1716029
Corral J, Martin C, Pe´rez R, et al. 1993 Thyroglobulin gene point mutation associated with non-endemic simple goitre. Lancet. 1993;341(8843):462–4. https://doi.org/10.1016/0140-6736(93)90209-y
doi: 10.1016/0140-6736(93)90209-y
pubmed: 8094490
Syrenicz A, Koziołek M, Ciechanowicz A, Sieradzka A, Bińczak-Kuleta A, Parczewski M. New insights into the diagnosis of nodular goiter. Thyroid Res 2014 Jun 17:7:6. https://doi.org/10.1186/1756-6614-7-6
Ahmed AA, Essa MEA. Potential of epigenetic events in human thyroid cancer. Cancer Genet. 2019;239:13–21. https://doi.org/10.1016/j.cancergen.2019.08.006
Verma M, Manne U. Genetic and epigenetic biomarkers in cancer diagnosis and identifying high risk populations. Crit Rev Oncol Hematol. 2006;60(1):9–18. https://doi.org/10.1016/j.critrevonc.2006.04.002
doi: 10.1016/j.critrevonc.2006.04.002
pubmed: 16829121
Meier M, Christ E, Szinnai G. Longitudinale, retrospektive Analyse von Patienten mit Jodmangel-Struma und Schilddrüsenkarzinomen, welche zwischen 1929–1989 im Gemeindespital Riehen operiert wurden. Master Thesis, University Basel, unpublished. 2021.
Bundesministerium für Ernährung und Landwirtschaft. Gesunde Ernährung, Jodversorgung in Deutschland:Ergebnisse des Jodmonitorings. https://www.bmel.de/DE/themen/ernaehrung/gesunde-ernaehrung/degs-jod-studie.html . Accessed 19 July 2023.
Esche J, Thamm M, Remer T. Contribution of iodized salt to total iodine and total salt intake in Germany. Eur J Nutr. 2020;59:3163–9. https://doi.org/10.1007/s00394-019-02154-7
doi: 10.1007/s00394-019-02154-7
pubmed: 31784815
Aoki S, Shteyn K, Marien R. BioRender.com. Accessed 19 July 2023.
QIAamp DNA, Investigator Kit. Handbook. 2020;1–55. Venlo, The Netherlands. Qiagen N.V.;2022.
Applied Biosystems 7500 Fast. 7500 and 7300 real-time PCR system product brochure. 117BR05-09. 12/2010. Waltham, MA, USA: Thermo Fisher Scientific Inc; 2022.
PowerQuant
Ewing MM, Thompson JM, McLaren RS, Purpero VM, Thomas KJ, Dobrowski PA, et al. Human DNA quantification and sample quality assessment: Developmental validation of the PowerQuant
doi: 10.1016/j.fsigen.2016.04.007
pubmed: 27206225
Poetsch M, Konrad H, Helmus J, Bajanowski T, von Wurmb-Schwark N. Does zero really mean nothing?—first experiences with the new PowerQuantTM system in comparison to established real-time quantification kits. Int J Legal Med. 2016;130:935–40. https://doi.org/10.1007/s00414-016-1352-1
doi: 10.1007/s00414-016-1352-1
pubmed: 26972802
Team R. R: a language and environment for statistical computing. Vienna, Austria: R Foundation for Statistical Computing; 2021.
Anslinger K, Bayer B. Whose blood is it? Application of DEPArrayTM technology for the identification of individual/s who contributed blood to a mixed stain. Int J Legal Med. 2019;133:419–26. https://doi.org/10.1007/s00414-018-1912-7
doi: 10.1007/s00414-018-1912-7
pubmed: 30121738
Anslinger K, Graw M, Bayer B. Deconvolution of blood-blood mixtures using DEPArray TM separated single cell STR profiling. Rechtsmedizin. 2019;29:30–40. https://doi.org/10.1007/s00194-018-0291-1
doi: 10.1007/s00194-018-0291-1
Schulze Johann K, Bauer H, Wiegand P, Pfeiffer H, Vennemann M. Detecting DNA damage in stored blood samples. Forensic Sci Med Pathol. 2022;50–9. https://doi.org/10.1007/s12024-022-00549-3
Badu-Boateng A, Twumasi P, Salifu SP, Afrifah KA. A comparative study of different laboratory storage conditions for enhanced DNA analysis of crime scene soil-blood mixed sample. Forensic Sci Int. 2018;292:97–109. https://doi.org/10.1016/j.forsciint.2018.09.007
doi: 10.1016/j.forsciint.2018.09.007
pubmed: 30292937
Frippiat C, Zorbo S, Leonard D, Marcotte A, Chaput M, Aelbrecht C, et al. Evaluation of novel forensic DNA storage methodologies. Forensic Sci Int Genet. 2011;5:386–92. https://doi.org/10.1016/j.fsigen.2010.08.007
doi: 10.1016/j.fsigen.2010.08.007
pubmed: 20837408
Rahikainen AL, Palo JU, de Leeuw W, Budowle B, Sajantila A. DNA quality and quantity from up to 16 years old post-mortem blood stored on FTA cards. Forensic Sci Int. 2016;261:148–53. https://doi.org/10.1016/j.forsciint.2016.02.014
doi: 10.1016/j.forsciint.2016.02.014
pubmed: 26937857
Hara M, Nakanishi H, Yoneyama K, Saito K, Takada A. Effects of storage conditions on forensic examinations of blood samples and bloodstains stored for 20 years. Leg Med. 2016;18:81–4. https://doi.org/10.1016/j.legalmed.2016.01.003
doi: 10.1016/j.legalmed.2016.01.003
Ünsal Sapan T, Erdoğan IT, Atasoy S. Human identification from washed blood stains. Bull Natl Res Cent. 2021;45. https://doi.org/10.1186/s42269-021-00600-3
Dissing J, Søndervang A, Lund S. Exploring the limits for the survival of DNA in blood stains. J Forensic Leg Med. 2010;17:392–6. https://doi.org/10.1016/j.jflm.2010.08.001
doi: 10.1016/j.jflm.2010.08.001
pubmed: 20851360
Schulte J, Rittiner N, Seiberle I, Kron S, Schulz I. Collecting touch DNA from glass surfaces using different sampling solutions and volumes: Immediate and storage effects on genetic STR analysis. J Forensic Sci. 2023;68:1133–47. https://doi.org/10.1111/1556-4029.15305
doi: 10.1111/1556-4029.15305
pubmed: 37282776
Malboosbaf R, Hosseinpanah F, Mojarrad M, Jambarsang S, Azizi F. Relationship between goiter and gender: a systematic review and meta-analysis. Endocrine. 2013;43:539–47. https://doi.org/10.1007/s12020-012-9831-8
doi: 10.1007/s12020-012-9831-8
pubmed: 23238875
Lind P, Langsteger W, Molnar M, Gallowitsch HJ, Mikosch P, Gomez I. Epidemiology of thyroid diseases in iodine sufficiency. Thyroid. 1998;8(12):1179–83. https://doi.org/10.1089/thy.1998.8.1179
doi: 10.1089/thy.1998.8.1179
pubmed: 9920375
Delange F. Iodine requirements during pregnancy, lactation and the neonatal period and indicators of optimal iodine nutrition. Public Health Nutr. 2007;10(12A):1571–80. https://doi.org/10.1017/S1368980007360941
doi: 10.1017/S1368980007360941
pubmed: 18053281
Chalari D, Gerber F, Matter J. Die Struma in Der Allgemeinmedizin. Bedeutung, Differenzialdiagnose Und Behandlung. Swiss Med Forum. 2017;17(49):1095–102.
doi: 10.4414/smf.2017.03134
Daly DJ, Murphy C, McDermott SD. The transfer of touch DNA from hands to glass, fabric and wood. Forensic Sci Int Genet. 2012;6:41–6. https://doi.org/10.1016/j.fsigen.2010.12.016
doi: 10.1016/j.fsigen.2010.12.016
pubmed: 21330229
van Oorschot RAH, Szkuta B, Meakin GE, Kokshoorn B, Goray M. DNA transfer in forensic science: a review. Forensic Sci Int Genet. 2019;38:140–66. https://doi.org/10.1016/j.fsigen.2018.10.014
doi: 10.1016/j.fsigen.2018.10.014
pubmed: 30399535
Fondevila M, Phillips C, Naverán N, Cerezo M, Rodríguez A, Calvo R, et al. Challenging DNA: Assessment of a range of genotyping approaches for highly degraded forensic samples. Forensic Sci Int Genet Suppl Ser. 2008;1:26–8. https://doi.org/10.1016/j.fsigss.2007.10.057
doi: 10.1016/j.fsigss.2007.10.057
Burger J, Hummel S, Herrmann B, Henke W. DNA preservation: a microsatellite-DNA study on ancient skeletal remains. Electrophoresis. 1999;20(19990101):1722–8. https://doi.org/10.1002/(sici)1522-2683 . )20:8%3C1722::aid-elps1722%3E3.0.co;2-4.
doi: 10.1002/(sici)1522-2683
pubmed: 10435438
Zięba-Palus J, Wesełucha-Birczyńska A, Trzcińska B, Kowalski R, Moskal P. Analysis of degraded papers by infrared and Raman spectroscopy for forensic purposes. J Mol Struct. 2017;1140:154–62. https://doi.org/10.1016/j.molstruc.2016.12.012
doi: 10.1016/j.molstruc.2016.12.012
Małachowska E, Dubowik M, Boruszewski P, Przybysz P. Accelerated ageing of paper: effect of lignin content and humidity on tensile properties. Herit Sci. 2021;9:1–8. https://doi.org/10.1186/s40494-021-00611-3
doi: 10.1186/s40494-021-00611-3
Area MC, Cheradame H. Paper aging and degradation: recent findings and research methods. BioResources. 2011;6:5307–37. https://doi.org/10.15376/biores.6.4.5307-5337
doi: 10.15376/biores.6.4.5307-5337
Kline MC, Duewer DL, Redman JW, Butler JM, Boyer DA. Polymerase chain reaction amplification of DNA from aged blood stains: quantitative evaluation of the suitability for purpose of four filter papers as archival media. Anal Chem. 2002;74:1863–9. https://doi.org/10.1021/ac015715e
doi: 10.1021/ac015715e
pubmed: 11985319
Smith LM, Burgoyne LA. Collecting, archiving and processing DNA from wildlife samples using FTA
doi: 10.1186/1472-6785-4-4
Prinz M, Staak M, Berghaus G. DNA extraction from bloodstains in respect to age and stained substrate. Acta Med Leg Soc. 1989;39(2):213–20.
Kobilinsky L. Recovery and stability of DNA in samples of forensic science significance. Forensic Sci Rev. 1992;4:67–87.
pubmed: 26267288
Gates KS. An overview of chemical processes that damage cellular DNA: spontaneous hydrolysis, alkylation, and reactions with radicals. Chem Res Toxicol. 2009;22:1747–60. https://doi.org/10.1021/tx900242k
doi: 10.1021/tx900242k
pubmed: 19757819
pmcid: 2806061
Frippiat C, Noel F. Efficiency of a novel forensic room-temperature DNA storage medium. Forensic Sci Int Genet. 2014;9:81–4. https://doi.org/10.1016/j.fsigen.2013.11.009
doi: 10.1016/j.fsigen.2013.11.009
pubmed: 24528585
Lee SB, Clabaugh KC, Silva B, Odigie KO, Coble MD, Loreille O, et al. Assessing a novel room temperature DNA storage medium for forensic biological samples. Forensic Sci Int Genet. 2012;6:31–40. https://doi.org/10.1016/j.fsigen.2011.01.008
doi: 10.1016/j.fsigen.2011.01.008
pubmed: 21324769
Hall A, Ballantyne J. Characterization of UVC-induced DNA damage in bloodstains: forensic implications. Anal Bioanal Chem. 2004;380:72–83. https://doi.org/10.1007/s00216-004-2681-3
doi: 10.1007/s00216-004-2681-3
pubmed: 15309360
Børsting C, Morling N. Next generation sequencing and its applications in forensic genetics. Forensic Sci Int Genet. 2015;18:78–89. https://doi.org/10.1016/j.fsigen.2015.02.002
doi: 10.1016/j.fsigen.2015.02.002
pubmed: 25704953
Butler JM, Coble MD, Vallone PM. STRs vs. SNPs: thoughts on the future of forensic DNA testing. Forensic Sci Med Pathol. 2007;3:200–5. https://doi.org/10.1007/s12024-007-0018-1
doi: 10.1007/s12024-007-0018-1
pubmed: 25869164
Schneider PM. Scientific standards for studies in forensic genetics. Forensic Sci Int. 2007;165:238–43. https://doi.org/10.1016/j.forsciint.2006.06.067
doi: 10.1016/j.forsciint.2006.06.067
pubmed: 16875790
Kanokwongnuwut P, Martin B, Taylor D, Kirkbride KP, Linacre A. How many cells are required for successful DNA profiling? Forensic Sci Int Genet. 2021;51:102453. https://doi.org/10.1016/j.fsigen.2020.102453
doi: 10.1016/j.fsigen.2020.102453
pubmed: 33422808
Watkins DRL, Myers D, Xavier HE, Marciano MA. Revisiting single cell analysis in forensic science. Sci Rep. 2021;11:1–12. https://doi.org/10.1038/s41598-021-86271-6
doi: 10.1038/s41598-021-86271-6
Senst A, Caliebe A, Scheurer E, Schulz I. Validation and beyond: next generation sequencing of forensic casework samples including challenging tissue samples from altered human corpses using the MiSeq FGx system. J Forensic Sci. 2022;67:1382–98. https://doi.org/10.1111/1556-4029.15028
doi: 10.1111/1556-4029.15028
pubmed: 35318655
pmcid: 9313618
Morgan AG, Prinz M. Development of Improved DNA Collection and extraction methods for handled documents. Genes (Basel). 2023;14. https://doi.org/10.3390/genes14030761
Hughes-Stamm SR, Ashton KJ, Van Daal A. Assessment of DNA degradation and the genotyping success of highly degraded samples. Int J Legal Med. 2011;125:341–8. https://doi.org/10.1007/s00414-010-0455-3
doi: 10.1007/s00414-010-0455-3
pubmed: 20419381
Pfeifer CM, Klein-Unseld R, Klintschar M, Wiegand P. Comparison of different interpretation strategies for low template DNA mixtures. Forensic Sci Int Genet. 2012;6:716–22. https://doi.org/10.1016/j.fsigen.2012.06.006
doi: 10.1016/j.fsigen.2012.06.006
pubmed: 22739132
Diegoli TM, Farr M, Cromartie C, Coble MD, Bille TW. An optimized protocol for forensic application of the PreCR™ Repair Mix to multiplex STR amplification of UV-damaged DNA. Forensic Sci Int Genet. 2012;6:498–503. https://doi.org/10.1016/j.fsigen.2011.09.003
doi: 10.1016/j.fsigen.2011.09.003
pubmed: 22001155
Wickenheiser R, Trace DNA, Review A. Discussion of theory, and application of the transfer of Trace quantities of DNA through skin contact. J Forensic Sci. 2002;47:442–50.
doi: 10.1520/JFS15284J
pubmed: 12051321
Burrill J, Daniel B, Frascione N. Technical note: lysis and purification methods for increased recovery of degraded DNA from touch deposit swabs. Forensic Sci Int. 2022;330:111102. https://doi.org/10.1016/j.forsciint.2021.111102
doi: 10.1016/j.forsciint.2021.111102
pubmed: 34814081