ADHD和DIRAS单核苷酸多态性作为脑震荡恢复期延长的指标

Taziah Kenney, J. McDevitt
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摘要

本研究的目的是确定DIRAS2(即与注意力缺陷/多动障碍(ADHD)相关的基因)中单核苷酸多态性(SNP;rs1412005)的存在与运动相关脑震荡后的长期恢复之间的关系。采用病例对照研究设计,从117名未识别的脑震荡运动员队列中选择病例和对照。来自该患者队列的11个样本自我报告了多动症诊断,年龄和性别与22名没有自我报告多动症诊断的参与者相匹配。病例组和对照组的平均恢复时间分别为21.50±13.96天和15.66±8.50天。作者发现,只有13.6%的未被诊断为多动症的患者在>30天内康复(p=0.044)。此外,作者发现72.7%的T等位基因(即次要等位基因)携带者在30天以上康复(p=0.0213)。研究人员得出结论,患有多动症的人有更高的风险长期脑震荡康复,持续时间超过30天。此外,携带罕见等位基因与恢复期延长有关,这表明该SNP可能是脑震荡恢复期延长和多动症存在的潜在遗传标志。
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ADHD and DIRAS Single Nucleotide Polymorphism as an Indicator of Prolonged Concussion Recovery
The purpose of this study was to determine the association between the presence of a single nucleotide polymorphism (SNP; rs1412005) within DIRAS2 (i.e., a gene associated with attention-deficit/hyperactivity disorder (ADHD) and prolonged recovery following a sport-related concussion. A case-control study design was implemented, where cases and controls were selected from a cohort of 117 deidentified concussed athletes. Eleven samples from this patient cohort self-reported ADHD diagnosis and were age and sex-matched to 22 participants with no self-reported ADHD diagnoses. The average recovery times were 21.50 + 13.96 days and 15.66 + 8.50 days for the case and control groups, respectively. The authors found that only 13.6% of the individuals without an ADHD diagnosis recovered in > 30 days (p = 0.044). Also, the authors found that 72.7% of the carriers of the T allele (i.e., minor allele) recovered in greater than 30 days (p = 0.213).  Researchers concluded that individuals with ADHD had a higher risk of prolonged concussion recovery lasting greater than 30 days. Also, carrying the rare allele was associated with prolonged recovery, which suggests this SNP could be a potential genetic marker for both prolonged concussion recovery and the presence of ADHD.
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