Anvar Leila Hosseinzadeh, Alejafar Asghar, Moosavi Seyyed Ebrahim, Charsouei Saeid, Zeynalzadeh Narges, Fanid Leila Mehdizadeh, Emamalizadeh Babak, Aydinlou Zahra Hassanpour, Vaezi Helaleh, Kashefi Adel, Tomaz Carlos, Nikanfar Masoud, Ahmadalipour Ali
Research Center of Psychiatry and Behavioral Sciences, Tabriz University of Medical Sciences, Tabriz, the Islamic Republic of Iran; Aging Research Institute, Tabriz University of Medical Sciences, Tabriz, the Islamic Republic of Iran.
Department of Neurology, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, the Islamic Republic of Iran.
Epilepsy Res. 2023 May;192:107100. doi: 10.1016/j.eplepsyres.2023.107100. Epub 2023 Feb 3.
The endocannabinoid (eCB) system regulates many physiological functions in the central nervous system. Fatty acid amide hydrolase (FAAH) is an essential enzyme in the eCB system, degrading anandamide. Single nucleotide polymorphism (SNP) rs324420 is a common genetic polymorphism of the FAAH gene and has been associated with susceptibility to neurological conditions. This study examined whether the SNP rs324420 (C385A) is associated with epilepsy and attention deficit hyperactivity disorder (ADHD). This study consists of two case-control parts. The first part comprises 250 epilepsy subjects and 250 healthy individuals as controls. The second one comprises 157 cases with ADHD and 136 healthy individuals as controls. Genotyping was carried out using polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) technique. Interestingly, the FAAH C384A genotype (OR 1.755, 95 % CI 1.124-2.742, p = 0.013) and allele (OR 1.462, 95 % CI 1.006-2.124, p = 0.046) distribution showed an association with generalized epilepsy. On the other hand, this SNP was not associated with the risk of ADHD. To our knowledge, there was no study on the association between rs324420 (C385A) polymorphism and the risks of ADHD or epilepsy. This study provided the first evidence of an association between generalized epilepsy and rs324420 (C385A) of FAAH. Larger sample sizes and functional studies are warranted to explore the clinical utility of FAAH genotyping as a possible marker for increased generalized epilepsy risk.
内源性大麻素（eCB）系统调节中枢神经系统的多种生理功能。脂肪酸酰胺水解酶（FAAH）是eCB系统中的一种关键酶，可降解花生四烯乙醇胺。单核苷酸多态性（SNP）rs324420是FAAH基因的一种常见基因多态性，与神经疾病易感性相关。本研究探讨SNP rs324420（C385A）是否与癫痫和注意力缺陷多动障碍（ADHD）有关。本研究包括两个病例对照部分。第一部分包括250名癫痫患者和250名健康个体作为对照。第二部分包括157名ADHD患者和136名健康个体作为对照。采用聚合酶链反应和限制性片段长度多态性（PCR-RFLP）技术进行基因分型。有趣的是，FAAH C384A基因型（比值比1.755，95%可信区间1.124-2.742，p = 0.013）和等位基因（比值比1.462，95%可信区间1.006-2.124，p = 0.046）分布与全身性癫痫有关。另一方面，该SNP与ADHD风险无关。据我们所知，尚无关于rs324420（C385A）多态性与ADHD或癫痫风险之间关联的研究。本研究首次提供了全身性癫痫与FAAH的rs324420（C385A）之间存在关联的证据。需要更大样本量和功能研究来探索FAAH基因分型作为全身性癫痫风险增加的可能标志物的临床应用价值。
