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埃及患者中CX3CR1基因V249M和T280M位点的基因多态性及其与终末期肾病的潜在风险

CX3CR1 at V249M and T280M Gene Polymorphism and Its Potential Risk for End-Stage Renal Diseases in Egyptian Patients.

作者信息

Ibrahim Asmaa Fathelbab, Osman Asmaa Osama Bakr Seddik, Elabbasy Lamiaa M, Abdelsalam Mostafa, Wahab A M, Zaki Maysaa El Sayed, Abdel-Latif Radwa Ahmed Rabea

机构信息

Lecturer of Clinical & Chemical Pathology, Faculty of Medicine, Beni Suef University, Beni Suef, Egypt.

Clinical Pathology Department, Faculty of Medicine, Assiut University, Asyut, Egypt.

出版信息

Int J Nephrol. 2021 Apr 24;2021:6634365. doi: 10.1155/2021/6634365. eCollection 2021.

Abstract

CX3CL1-CX3CR1 pathway may be one of the future treatment targets to delay the progression of end-stage renal diseases. This study aimed to evaluate the CX3CR gene polymorphism in Egyptian patients with ESRD and its relation to fractalkine blood level. The study included 100 patients with ESRD on dialysis, 61 males and 39 females with mean age 51.02 ± 7.8 years. The V2491 genotype revealed a significant increase in the frequency of GG genotype in healthy control (83%) compared to patients [69%] with a significant increase in GA in patients [30%] compared to control subjects [15%],  = 0.03. T280M study showed a statistically significant prevalence of TT genotype in healthy control subjects [86%-OR 95% CI 1.7] compared to patients [70%] with a significant increase in the prevalence of TA in patients [29%] compared to control subjects [13%],  = 0.01. There was a significant increase in fractalkine levels in genotypes GA + AA [503.04±224.1] pg/ml compared to genotype GG [423.6 210.3],  = 0.03. Moreover, there was a significant increase in the blood level of fractalkine in genotype TA + AA [498.8 219.6] compared to genotype TT [426.8±212.8],  = 0.05. In conclusion, our study showed that both V2491-GA genotype and T280M-TA are associated with potential risk for end-stage renal disease in Egyptian patients.

摘要

CX3CL1-CX3CR1通路可能是延缓终末期肾病进展的未来治疗靶点之一。本研究旨在评估埃及终末期肾病患者的CX3CR基因多态性及其与fractalkine血水平的关系。该研究纳入了100例接受透析的终末期肾病患者,其中61例男性和39例女性,平均年龄51.02±7.8岁。V2491基因型显示,与患者[69%]相比,健康对照中GG基因型的频率显著增加[83%],与对照受试者[15%]相比,患者中GA的频率显著增加[30%],P = 0.03。T280M研究显示,与患者[70%]相比,健康对照受试者中TT基因型的患病率具有统计学意义[86%-OR 95% CI 1.7],与对照受试者[13%]相比,患者中TA的患病率显著增加[29%],P = 0.01。与基因型GG[423.6±210.3]相比,基因型GA+AA[503.04±224.1]pg/ml的fractalkine水平显著升高,P = 0.03。此外,与基因型TT[426.8±212.8]相比,基因型TA+AA[498.8±219.6]的fractalkine血水平显著升高,P = 0.05。总之,我们的研究表明,V2491-GA基因型和T280M-TA均与埃及患者终末期肾病的潜在风险相关。

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