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埃及儿科人群中系统性红斑狼疮(SLE)患者明胶酶B/基质金属蛋白酶9(MMP-9)基因单倍型的关联研究

Association of the Gelatinase B/Metalloproteinase 9 (MMP-9) Gene Haplotype in Systemic Lupus Erythematosus (SLE) in the Pediatric Egyptian Population.

作者信息

Attia Zeinab R, Zedan Mohamed M, Mutawi Thuraya M, Saad Entsar A, Abd El Azeem Rania A, El Basuni Mohamed A

机构信息

Mansoura University Children's Hospital, Mansoura University, Mansoura 35516, Egypt.

Department of Pediatrics, Faculty of Medicine, Mansoura University, Mansoura 35516, Egypt.

出版信息

Children (Basel). 2022 Aug 24;9(9):1271. doi: 10.3390/children9091271.

DOI:10.3390/children9091271
PMID:36138580
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9496982/
Abstract

Permanent systemic inflammation is a defining feature of systemic lupus erythematosus (SLE), which affects multiple organs. Gelatinase B/matrix metalloproteinase-9 (MMP-9) is an essential protease investigated in inflammation that has been linked to SLE. The study’s objective was to investigate the relationship between the rs3918249 T/C and rs17576 A/G SNPs in the MMP-9 gene with SLE. The study was conducted with 100 SLE cases and 100 age/sex-matched healthy individuals. TaqManTM SNP was used for genotyping by real time PCR on the Artus Rotor-Gene Qiagen equipment. Haplotypes (TG: OR = 0.226, 95% CI = 0.119−0.429) and (CA: OR = 0.36, 95% CI = 0.2206−0.631), both with a p-value < 0.001 were substantially linked to a lower incidence of SLE. Conversely, the risk of SLE was not associated with the individual SNPs studied. The haplotype analysis was more significant than the SNP analysis and may correlate with the decreased risk of SLE in children and adolescents in Egypt.

摘要

持续性全身炎症是系统性红斑狼疮(SLE)的一个决定性特征,该病会影响多个器官。明胶酶B/基质金属蛋白酶-9(MMP-9)是一种在炎症中被研究的重要蛋白酶,它与SLE有关。该研究的目的是调查MMP-9基因中rs3918249 T/C和rs17576 A/G单核苷酸多态性(SNP)与SLE之间的关系。该研究对100例SLE患者和100名年龄/性别匹配的健康个体进行。使用TaqManTM SNP通过实时荧光定量PCR在艾本德Rotor-Gene Qiagen仪器上进行基因分型。单倍型(TG:比值比[OR]=0.226,95%置信区间[CI]=0.119−0.429)和(CA:OR=0.36,95%CI=0.2206−0.631),两者p值均<0.001,与SLE较低的发病率显著相关。相反,SLE的风险与所研究的单个SNP无关。单倍型分析比SNP分析更具显著性,可能与埃及儿童和青少年SLE风险降低相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1239/9496982/07579fd2a51a/children-09-01271-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1239/9496982/07579fd2a51a/children-09-01271-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1239/9496982/07579fd2a51a/children-09-01271-g001.jpg

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本文引用的文献

1
Association of genetic variants and circulating level with systemic lupus erythematosus risk in Egyptian children and adolescents.遗传变异与循环水平与埃及儿童和青少年系统性红斑狼疮风险的关联。
Biomark Med. 2021 Dec;15(17):1669-1680. doi: 10.2217/bmm-2021-0203. Epub 2021 Nov 8.
2
Plasma interleukin-22 level, variants in interleukin-22 gene polymorphism, and the severity of systemic lupus erythematosus among Egyptian pediatric and adolescents.埃及儿科和青少年系统性红斑狼疮患者的血浆白细胞介素-22 水平、白细胞介素-22 基因多态性变异与疾病严重程度的关系。
Lupus. 2021 Nov;30(13):2066-2074. doi: 10.1177/09612033211042330. Epub 2021 Sep 7.
3
Single-nucleotide polymorphisms (SNPs) of antioxidant enzymes SOD2 and GSTP1 genes and SLE risk and severity in an Egyptian pediatric population.
抗氧化酶 SOD2 和 GSTP1 基因的单核苷酸多态性(SNPs)与埃及儿科人群的 SLE 风险和严重程度的关系。
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Immunometabolism in the pathogenesis of systemic lupus erythematosus.系统性红斑狼疮发病机制中的免疫代谢
J Transl Autoimmun. 2020 Mar 17;3:100046. doi: 10.1016/j.jtauto.2020.100046. eCollection 2020.
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Role of matrix metalloproteinase-9 gene polymorphisms in glaucoma: A hospital-based study in Chinese patients.基质金属蛋白酶-9 基因多态性在青光眼发病机制中的作用:一项基于医院的中国患者研究。
J Clin Lab Anal. 2020 Mar;34(3):e23105. doi: 10.1002/jcla.23105. Epub 2019 Nov 12.
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Association between Serum Matrix Metalloproteinase- (MMP-) 3 Levels and Systemic Lupus Erythematosus: A Meta-analysis.血清基质金属蛋白酶- (MMP-) 3 水平与系统性红斑狼疮的相关性:一项荟萃分析。
Dis Markers. 2019 Jul 18;2019:9796735. doi: 10.1155/2019/9796735. eCollection 2019.
7
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BMC Neurol. 2019 Apr 16;19(1):67. doi: 10.1186/s12883-019-1285-7.
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