Associations between forensic loci and expression levels of neighboring genes may compromise medical privacy.
Associations between forensic loci and expression levels of neighboring genes may compromise medical privacy.
复制标题
DOI：
10.1073/pnas.2121024119
复制
发表时间：
2022-10-04
影响因子：
11.1
通讯作者：
中科院分区：
文献类型：
--
作者：
法医遗传学的一个核心假设是，用于鉴定的基因座不会揭示任何医学信息。这一假设对于指导法医样本如何被扣押、数据库化和访问的法律的和道德框架至关重要。尽管保护数千万具有法医遗传特征的人的医疗隐私非常重要，但自20世纪90年代法医基因座建立以来，很少有研究解决这个问题。在这里，我们展示了一些证据来质疑这一核心假设。我们发现法医标记物的基因型和相邻基因的表达之间存在显着的相关性，继续寻找分子机制的证据。这些结果对法医遗传学资料的处理具有实质性的法律的和伦理意义。美国刑事司法系统使用一组20个短串联重复序列（STR）来识别嫌疑人，并为以前被定罪或逮捕的个人维护基因图谱数据库。其中一些可疑交易报告是在20世纪90年代发现的，倾向于在推定的基因沙漠中使用标记，以避免法医图谱揭示受保护的医疗信息。我们重新审视了这一假设，调查法医遗传学图谱是否揭示了基因表达变异或潜在医学信息的信息。我们发现六个显着的相关性（错误发现率= 0.23）之间的法医STR和邻近基因的表达水平在淋巴母细胞系。我们探讨这些协会的可能机制，显示证据与法医STR导致表达变异或与因果基因座在三个案件和其他三种情况下较弱或潜在的虚假关联在连锁不平衡。总之，这些结果表明，法医遗传位点可能揭示表达水平，也许，医学信息。
A central assumption in forensic genetics is that the loci used for identification do not reveal any medical information. This assumption is crucial for the legal and ethical frameworks guiding how forensic samples are seized, databased, and accessed. Despite the importance of safeguarding the medical privacy of tens of millions of people with forensic genetic profiles, few studies have addressed the question since the forensic loci were established in the 1990s. Here, we show evidence calling to question this central assumption. We show significant correlations between the genotype of forensic markers and expression of neighboring genes, going on to find evidence for a molecular mechanism. These results have substantive legal and ethical implications for the treatment of forensic genetic profiles. A set of 20 short tandem repeats (STRs) is used by the US criminal justice system to identify suspects and to maintain a database of genetic profiles for individuals who have been previously convicted or arrested. Some of these STRs were identified in the 1990s, with a preference for markers in putative gene deserts to avoid forensic profiles revealing protected medical information. We revisit that assumption, investigating whether forensic genetic profiles reveal information about gene-expression variation or potential medical information. We find six significant correlations (false discovery rate = 0.23) between the forensic STRs and the expression levels of neighboring genes in lymphoblastoid cell lines. We explore possible mechanisms for these associations, showing evidence compatible with forensic STRs causing expression variation or being in linkage disequilibrium with a causal locus in three cases and weaker or potentially spurious associations in the other three cases. Together, these results suggest that forensic genetic loci may reveal expression levels and, perhaps, medical information.
登录
查看更多内容
自闭症谱系障碍（ASD）、精神分裂症和双相情感障碍中全转录组异构体水平失调
影响因子：
56.9
作者：
Gandal, Michael J.;Zhang, Pan;Geschwind, Daniel H.
通讯作者：
Geschwind, Daniel H.
DOI：
10.1016/s0167-4781(99)00240-7
发表时间：
2000-02-29
期刊：
BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION
影响因子：
--
作者：
Bullard, JM;Cai, YC;Spremulli, LL
通讯作者：
Spremulli, LL
影响因子：
9.8
作者：
Browning, Brian L.;Zhou, Ying;Browning, Sharon R.
通讯作者：
Browning, Sharon R.
影响因子：
9.8
作者：
Browning, Brian L.;Browning, Sharon R.
通讯作者：
Browning, Sharon R.
影响因子：
64.8
作者：
通讯作者：
--