Yang Qi, Yang Chun, Hua Zhiqi, Shen Qi, Chen Anqi, Ba Huajie, Zhang Suhua
Institute of Forensic Science, Fudan University, Shanghai 200032, China.
The 904th Hospital (Changzhou Branch) of Joint Logistic Support Force of Chinese People's Liberation Army, Changzhou 213000, China.
Genes (Basel). 2024 Nov 27;15(12):1525. doi: 10.3390/genes15121525.
BACKGROUND/OBJECTIVES: Short tandem repeat (STR) loci are widely used in forensic genetics for identification and kinship analysis. Traditionally, these loci were selected to avoid medical associations, but recent studies suggest that loci such as TH01 and D16S539 may be linked to psychiatric conditions like schizophrenia. This study explores these potential associations and considers the privacy implications related to disease susceptibility.
We analyzed 19 STR loci, including CODIS core loci and additional loci like Penta D and Penta E. Statistical analyses were conducted on a dataset of schizophrenia patients and matched control individuals to assess the relationship between STR polymorphisms and schizophrenia risk.
No significant associations were found between the 19 analyzed loci and schizophrenia in this dataset. While initial analyses revealed minor allele frequency differences at the D3S1358, D13S317, and TPOX loci between the schizophrenia and control groups, these differences did not retain statistical significance following Bonferroni correction (corrected < 0.0026 for all loci).
Although no significant associations were found between STR loci and schizophrenia, this study highlights the importance of considering the potential for forensic DNA data to reveal health-related information. As forensic DNA databases continue to expand, there is a growing need to reassess ethical and legal guidelines to ensure the protection of individual privacy. Future research should continue exploring these genetic associations with larger, more diverse samples to further understand their implications.
背景/目的：短串联重复序列（STR）位点在法医遗传学中广泛用于身份鉴定和亲属关系分析。传统上，这些位点的选择是为了避免与医学相关联，但最近的研究表明，诸如TH01和D16S539等位点可能与精神分裂症等精神疾病有关。本研究探讨了这些潜在关联，并考虑了与疾病易感性相关的隐私问题。
我们分析了19个STR位点，包括联合DNA索引系统（CODIS）核心位点以及Penta D和Penta E等其他位点。对精神分裂症患者和匹配的对照个体数据集进行统计分析，以评估STR多态性与精神分裂症风险之间的关系。
在该数据集中，未发现19个分析位点与精神分裂症之间存在显著关联。虽然初步分析显示精神分裂症组和对照组之间在D3S1358、D13S317和TPOX位点存在次要等位基因频率差异，但经过Bonferroni校正后（所有位点校正后<0.0026），这些差异不再具有统计学意义。
虽然未发现STR位点与精神分裂症之间存在显著关联，但本研究强调了考虑法医DNA数据揭示健康相关信息的可能性的重要性。随着法医DNA数据库不断扩大，越来越需要重新评估伦理和法律准则，以确保保护个人隐私。未来的研究应继续使用更大、更多样化的样本探索这些基因关联，以进一步了解其影响。
