埃及狼疮性肾炎患者血管紧张素转换酶的插入/缺失基因多态性及其血清水平

IF 0.9 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2025-05-19 DOI:10.1016/j.genrep.2025.102264

Shaymaa Abdelraheem Abdelhady , Eman Abd El Moamen , Mohamed Fawzy , Ayman Salem , Ahmed Maaty , Maii Abdelraheem , Salwa Faisal , Gehan A. Ibrahim

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引用次数: 0

摘要

背景与目的系统性红斑狼疮（SLE）及其并发症如狼疮肾炎（LN）可能受血管紧张素转换酶（ACE）插入/缺失（I/D）多态性的影响。然而，先前的研究和荟萃分析的结果并没有发现LN和ACE等位基因之间关联的一致结论。本研究旨在评估埃及活检证实的LN患者ACE基因的I/D多态性。方法对94例LN患者和40例健康对照者进行病例对照研究。LN是根据国际肾脏病学会/肾脏病理学会的组织病理学结果诊断的。所有患者的生化分析包括血清肌酐、24小时蛋白尿、抗核抗体（ANA）、抗双链脱氧核糖核酸（dsDNA）。采用ELISA试剂盒检测血清ACE水平。实时聚合酶链反应（RT-PCR）检测ACE I/D基因型。结果LN患者中DD基因型的患病率明显高于健康人。DD基因型患者血清肌酐、ACE水平和蛋白尿均高于其他基因型患者。DD基因型与LN的高风险相关。结论ace I/D多态性与狼疮性肾炎相关，可作为早期LN易感性的预后指标。

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The insertion/deletion gene polymorphism of angiotensin-converting enzyme and its serum level in lupus nephritis among Egyptians

Background and objective

Systemic lupus erythematosus (SLE) and its complications like lupus nephritis (LN) may be affected by Angiotensin Converting Enzyme (ACE) insertion/deletion (I/D) polymorphism. However, the results of previous studies and meta-analyses didn't find consistent conclusions about the association between LN and ACE alleles. This study aimed to assess the I/D polymorphism of the ACE gene in Egyptian patients with biopsy-confirmed LN.

Methodology

This case-control study was conducted on 94 LN patients and 40 healthy controls. LN was diagnosed according to the histopathological findings of the International Society of Nephrology/Renal Pathology Society. The biochemical analysis includes serum creatinine, 24-h proteinuria, anti-nuclear antibodies (ANA), and anti-double-stranded deoxyribonucleic acid (dsDNA) in all patients have been done. Serum ACE levels were measured using an ELISA Kit. ACE I/D genotypes were determined by real-time polymerase chain reaction (RT-PCR).

Results

A significant prevalence of DD genotype was observed in LN patients than in healthy participants. Higher serum creatinine was observed with DD genotypes, ACE levels, and proteinuria than the other genotypes. DD genotype has been linked to a higher risk of LN.

Conclusion

ACE I/D polymorphism could be associated with lupus nephritis and it can be exploited as a prognostic marker for early LN predisposition.

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来源期刊

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.