Suppr超能文献

NLPR1、NLPR3和P2X7R基因多态性与部分性癫痫之间的关联。

Association between NLPR1, NLPR3, and P2X7R Gene Polymorphisms with Partial Seizures.

作者信息

Wang Haidong, Xu Pengfei, Liao Dehua, Dang Ruili, He Xin, Guo Yujin, Jiang Pei

机构信息

Department of Pharmacy, The First People's Hospital of Lianyungang, The Affiliated Hospital of Kangda College of Nanjing Medical University, Jiangsu, Lianyungang 222002, China.

Institute of Clinical Pharmacy & Pharmacology, Jining First People's Hospital, Jining Medical University, Jining 272000, China.

出版信息

Biomed Res Int. 2017;2017:9547902. doi: 10.1155/2017/9547902. Epub 2017 Apr 19.

Abstract

. Clinical and experimental evidence has clarified that the inflammatory processes within the brain play a pivotal role in the pathophysiology of seizures and epilepsy. Inflammasomes and P2X7 purinergic receptor (P2X7R) are important mediators during the inflammatory process. Therefore, we investigated the possible association between partial seizures and inflammasomes NLPR1, NLRP3, and P2X7R gene polymorphisms in the present study. . A total of 163 patients and 201 health controls were enrolled in this study and polymorphisms of NLPR1, NLRP3, and P2X7R genes were detected using polymerase chain reaction- (PCR-) ligase detection reaction method. . The frequency of rs878329 (G>C) genotype with C (CG + CC) was significantly lower among patients with partial seizures relative to controls (OR = 2.033, 95% CI = 1.290-3.204, = 0.002 for GC + CC versus GG). Intriguingly, we found that the significant difference of rs878329 (G>C) genotype and allele frequency only existed among males (OR = 2.542, 95% CI = 1.344-4.810, = 0.004 for GC + CC versus GG), while there was no statistically significant difference among females. However, no significant results were presented for the genotype distributions of rs8079034, rs4612666, rs10754558, rs2027432, rs3751143, and rs208294 polymorphisms between patients and controls. . Our study demonstrated the potentially significant role of NLRP1 rs878329 (G>C) in developing susceptibility to the partial seizures in a Chinese Han population.

摘要

临床和实验证据表明,脑内的炎症过程在癫痫发作和癫痫的病理生理学中起关键作用。炎性小体和P2X7嘌呤能受体(P2X7R)是炎症过程中的重要介质。因此,在本研究中,我们调查了部分性癫痫发作与炎性小体NLPR1、NLRP3和P2X7R基因多态性之间的可能关联。本研究共纳入163例患者和201名健康对照,采用聚合酶链反应 - (PCR - )连接酶检测反应方法检测NLPR1、NLRP3和P2X7R基因的多态性。与对照组相比,部分性癫痫发作患者中rs878329(G>C)基因型C(CG + CC)的频率显著降低(GC + CC与GG相比,OR = 2.033,95% CI = 1.290 - 3.204,P = 0.002)。有趣的是,我们发现rs878329(G>C)基因型和等位基因频率的显著差异仅存在于男性中(GC + CC与GG相比,OR = 2.542,95% CI = 1.344 - 4.810,P = 0.004),而女性之间无统计学显著差异。然而,患者与对照组之间rs8079034、rs4612666、rs10754558、rs2027432、rs3751143和rs208294多态性的基因型分布未呈现显著结果。我们的研究证明了NLRP1 rs878329(G>C)在中国汉族人群中对部分性癫痫发作易感性发展的潜在重要作用。

相似文献

1
Association between NLPR1, NLPR3, and P2X7R Gene Polymorphisms with Partial Seizures.
Biomed Res Int. 2017;2017:9547902. doi: 10.1155/2017/9547902. Epub 2017 Apr 19.
2
Association of and Polymorphisms with Psoriasis Vulgaris Risk in the Chinese Han Population.
Biomed Res Int. 2018 Apr 3;2018:4714836. doi: 10.1155/2018/4714836. eCollection 2018.
5
Variants of NLRP3 gene are associated with insulin resistance in Chinese Han population with type-2 diabetes.
Gene. 2013 Nov 1;530(1):151-4. doi: 10.1016/j.gene.2013.07.082. Epub 2013 Aug 22.
6
Polymorphisms in Gene Are Associated with Type 1 Diabetes.
J Diabetes Res. 2019 Jul 14;2019:7405120. doi: 10.1155/2019/7405120. eCollection 2019.
7
Association of NLRP3 polymorphisms with susceptibility to primary gouty arthritis in a Chinese Han population.
Clin Rheumatol. 2018 Jan;37(1):235-244. doi: 10.1007/s10067-017-3900-6. Epub 2017 Dec 7.
8
The missense variation Q705K in CIAS1/NALP3/NLRP3 gene and an NLRP1 haplotype are associated with celiac disease.
Am J Gastroenterol. 2011 Mar;106(3):539-44. doi: 10.1038/ajg.2010.474. Epub 2011 Jan 18.
10
Association between inflammasome-related polymorphisms and psoriatic arthritis.
Scand J Rheumatol. 2021 May;50(3):206-212. doi: 10.1080/03009742.2020.1834611. Epub 2020 Dec 10.

引用本文的文献

1
Role of inflammasomes and neuroinflammation in epilepsy.
Immunol Rev. 2025 Jan;329(1):e13421. doi: 10.1111/imr.13421. Epub 2024 Nov 10.
2
Inflammasomes at the crossroads of traumatic brain injury and post-traumatic epilepsy.
J Neuroinflammation. 2024 Jul 16;21(1):172. doi: 10.1186/s12974-024-03167-8.
4
Targeting NLRP3 inflammasome for neurodegenerative disorders.
Mol Psychiatry. 2023 Nov;28(11):4512-4527. doi: 10.1038/s41380-023-02239-0. Epub 2023 Sep 5.
6
Systemic inflammation as a biomarker of seizure propensity and a target for treatment to reduce seizure propensity.
Epilepsia Open. 2023 Mar;8(1):221-234. doi: 10.1002/epi4.12684. Epub 2023 Jan 23.
7
P2Y12 receptor gene polymorphisms are associated with epilepsy.
Purinergic Signal. 2023 Mar;19(1):155-162. doi: 10.1007/s11302-022-09848-4. Epub 2022 Feb 17.
8
Advances regarding Neuroinflammation Biomarkers with Noninvasive Techniques in Epilepsy.
Behav Neurol. 2021 Dec 22;2021:7946252. doi: 10.1155/2021/7946252. eCollection 2021.
10
The Dichotomous Role of Inflammation in the CNS: A Mitochondrial Point of View.
Biomolecules. 2020 Oct 13;10(10):1437. doi: 10.3390/biom10101437.

本文引用的文献

3
Gender difference in acquired seizure susceptibility in adult rats after early complex febrile seizures.
Neurosci Bull. 2014 Dec;30(6):913-922. doi: 10.1007/s12264-014-1482-8. Epub 2014 Nov 13.
4
Tensile strain increased COX-2 expression and PGE2 release leading to weakening of the human amniotic membrane.
Placenta. 2014 Dec;35(12):1057-64. doi: 10.1016/j.placenta.2014.09.006. Epub 2014 Sep 19.
5
P2X7 receptor: an emerging target in central nervous system diseases.
Trends Pharmacol Sci. 2014 Oct;35(10):537-47. doi: 10.1016/j.tips.2014.08.002. Epub 2014 Sep 12.
7
Genetic variations of NLRP1: susceptibility in psoriasis.
Br J Dermatol. 2014 Dec;171(6):1517-20. doi: 10.1111/bjd.13178. Epub 2014 Oct 22.
9
Evaluation of first nonfebrile seizures.
Am Fam Physician. 2012 Aug 15;86(4):334-40.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验