AVPR1A,即精氨酸加压素受体1A基因,编码精氨酸加压素受体1A蛋白,该蛋白在多种生理过程中发挥重要作用,包括水盐平衡、血管张力和生殖行为。AVPR1A基因位于人类染色体12q24,其表达受到多种因素的调控,包括激素、神经递质和基因多态性等。
AVPR1A基因与多种健康条件和疼痛相关。例如,AVPR1A基因的SNP rs10877969与镰状细胞病(SCD)患者的疼痛程度相关[1]。此外,AVPR1A基因还与慢性内脏疼痛相关,如肠易激综合征(IBS)[2,3]。研究表明,AVPR1A基因的表达水平与慢性内脏疼痛的敏感性相关,AVPR1A基因表达水平较高的患者,疼痛程度也较高[2,3]。
AVPR1A基因还与多种行为表型相关,如配对行为、自闭症谱系障碍、音乐才能、不忠行为、利他主义、一夫一妻制、交配行为、物质滥用和酒精偏好等[1]。此外,AVPR1A基因还与信任和互惠行为相关,研究表明,AVPR1A基因的短型与信任和互惠行为相关[6]。
AVPR1A基因的表达还受到表观遗传调控的影响,如DNA甲基化等。例如,在妊娠高血压症(pre-eclampsia)中,AVPR1A基因的DNA甲基化水平升高,导致AVPR1A基因的表达水平下降,从而影响胎盘血管的收缩反应[4]。此外,宫内暴露于母体吸烟的婴儿,AVPR1A基因的DNA甲基化水平降低[5]。
AVPR1A基因的研究有助于深入理解AVPR1A基因的功能和作用机制,为相关疾病的治疗和预防提供新的思路和策略。例如,针对AVPR1A基因的药物开发,可以用于治疗慢性内脏疼痛和妊娠高血压症等疾病。
参考文献:
1. Roach, Keesha L, Hershberger, Patricia E, Rutherford, Julienne N, Wang, Zaijie Jim, Wilkie, Diana J. 2018. The AVPR1A Gene and Its Single Nucleotide Polymorphism rs10877969: A Literature Review of Associations with Health Conditions and Pain. In Pain management nursing : official journal of the American Society of Pain Management Nurses, 19, 430-444. doi:10.1016/j.pmn.2018.01.003. https://pubmed.ncbi.nlm.nih.gov/29503216/
2. Kader, Leena, Willits, Adam, Meriano, Sebastian, Baumbauer, Kyle, Young, Erin E. 2023. Identification of arginine-vasopressin receptor 1a (Avpr1a/AVPR1A) as a novel candidate gene for chronic visceral pain. In bioRxiv : the preprint server for biology, , . doi:10.1101/2023.12.19.572390. https://pubmed.ncbi.nlm.nih.gov/38187732/
3. Kader, Leena, Willits, Adam B, Meriano, Sebastian, Baumbauer, Kyle M, Young, Erin E. 2024. Identification of Arginine-Vasopressin Receptor 1a (Avpr1a/Avpr1a) as a Novel Candidate Gene for Chronic Visceral Pain Sheds Light on the Potential Role of Enteric Neurons in the Development of Visceral Hypersensitivity. In The journal of pain, 25, 104572. doi:10.1016/j.jpain.2024.104572. https://pubmed.ncbi.nlm.nih.gov/38768798/
4. Gao, Qinqin, Li, Huan, Ding, Hongmei, Tao, Jianying, Xu, Zhice. 2019. Hyper-methylation of AVPR1A and PKCΒ gene associated with insensitivity to arginine vasopressin in human pre-eclamptic placental vasculature. In EBioMedicine, 44, 574-581. doi:10.1016/j.ebiom.2019.05.056. https://pubmed.ncbi.nlm.nih.gov/31175056/
5. Nidey, Nichole, Bowers, Katherine, Ding, Lili, Mahabee-Gittens, E Melinda, Folger, Alonzo T. 2023. Neonatal AVPR1a Methylation and In-Utero Exposure to Maternal Smoking. In Toxics, 11, . doi:10.3390/toxics11100855. https://pubmed.ncbi.nlm.nih.gov/37888705/
6. Nishina, Kuniyuki, Takagishi, Haruto, Takahashi, Hidehiko, Sakagami, Masamichi, Inoue-Murayama, Miho. 2019. Association of Polymorphism of Arginine-Vasopressin Receptor 1A (AVPR1a) Gene With Trust and Reciprocity. In Frontiers in human neuroscience, 13, 230. doi:10.3389/fnhum.2019.00230. https://pubmed.ncbi.nlm.nih.gov/31354450/