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GRIN2A启动子多态性与脑震荡恢复之间的关联。

Association between GRIN2A promoter polymorphism and recovery from concussion.

作者信息

McDevitt Jane, Tierney Ryan Timothy, Phillips Jacqueline, Gaughan John P, Torg Joseph S, Krynetskiy Evgeny

机构信息

a Department of Kinesiology , Temple University , Philadelphia , PA , USA .

b Biostatistics Consulting Center , Philadelphia , PA , USA .

出版信息

Brain Inj. 2015;29(13-14):1674-81. doi: 10.3109/02699052.2015.1075252. Epub 2015 Oct 26.

Abstract

OBJECTIVE

To determine genetic variability within the N-methyl-D-aspartate receptor 2A sub-unit (GRIN2A) gene promoter and its association with concussion recovery time. The hypothesis tested was that there would be a difference in allele and/or genotype distribution between two groups of athletes with normal and prolonged recovery.

METHODS

DNA was extracted from saliva collected from a total of 87 athletes with a physician-diagnosed concussion. The (GT) variable number tandem repeats (VNTR) within the promoter region of GRIN2A was genotyped. The long (L) allele was an allele with ≥25 repeats and the short (S) allele was an allele with <25 repeats in the GT tract. Participants' recovery time was followed prospectively and was categorized as normal (≤60 days) or prolonged (>60 days).

RESULTS

LL carriers were 6-times more likely to recover longer than 60 days following the concussive event (p = 0.0433) when compared to SS carriers. Additionally, L allele carriers were found more frequently in the prolonged recovery group (p = 0.048).

CONCLUSION

Determining genetic influence on concussion recovery will aid in future development of genetic counselling. The clinical relevance of genotyping athletes could improve management of athletes who experience concussion injuries.

摘要

目的

确定N-甲基-D-天冬氨酸受体2A亚基(GRIN2A)基因启动子内的基因变异性及其与脑震荡恢复时间的关联。所检验的假设是,恢复正常和恢复时间延长的两组运动员之间的等位基因和/或基因型分布会存在差异。

方法

从总共87名经医生诊断为脑震荡的运动员所采集的唾液中提取DNA。对GRIN2A启动子区域内的(GT)可变数目串联重复序列(VNTR)进行基因分型。长(L)等位基因是在GT序列中具有≥25次重复的等位基因,短(S)等位基因是在GT序列中具有<25次重复的等位基因。对参与者的恢复时间进行前瞻性跟踪,并分为正常(≤60天)或延长(>60天)。

结果

与SS携带者相比,LL携带者在脑震荡事件后恢复超过60天的可能性高6倍(p = 0.0433)。此外,在恢复时间延长的组中发现L等位基因携带者更为频繁(p = 0.048)。

结论

确定基因对脑震荡恢复的影响将有助于未来遗传咨询的发展。对运动员进行基因分型的临床意义可能会改善对经历脑震荡损伤的运动员的管理。

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