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).
Janine Schulte, Gerhard Hotz, Gabor Szinnai, Emanuel Christ, Gaspare Foderà, Karl Krüsi, Peter Nussberger, Sarah Kron, Iris Schulz
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引用次数: 0
Abstract
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.
缺碘引起的甲状腺肿仍然是一个全球性的公共卫生问题，其表现因地域、患者年龄和性别的不同而各异。为了深入了解临床表现，一项回顾性研究分析了1929年至1989年间在瑞士里昂社区医院接受手术治疗的碘缺乏病诱发甲状腺肿或甲状腺癌患者的病历。尽管如今瑞士已充分补碘，但碘依赖性甲状腺肿的发病风险仍然很高，这表明可能与遗传等因素有关。因此，我们开展了一项试验性研究，探索对这些医疗记录中的血斑进行遗传分析的可行性，以调查和加深对甲状腺肿发展的了解，找出潜在的遗传变异，并探索饮食习惯和其他环境刺激对该疾病的影响。这些血指纹是通过将摘除的器官按压、绘制或描摹（即按压和绘制）到纸片上制成的。DNA 分析表明，不同指纹之间的产率差异大于不同年份之间的差异。相当一部分样本的 DNA 出现严重退化，这与样本采集时间和不同贡献者的 DNA 混合物无关。因此，必须对每个甲状腺肿印迹进行单独评估，不能用来预测一般基因分析的成功率。建议采集大量样本或整个血液消融样本进行基因分析，以减少 DNA 数量不足的可能性。研究人员还应考虑降解和外部生物化合物对相关基因分析的影响，预计主要影响因素来自患者的血液。
期刊介绍：
BMC Medical Genomics is an open access journal publishing original peer-reviewed research articles in all aspects of functional genomics, genome structure, genome-scale population genetics, epigenomics, proteomics, systems analysis, and pharmacogenomics in relation to human health and disease.
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