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Exploring the interplay of MTHFR and FGG polymorphisms with serum levels of adiponectin and leptin in pediatric lupus nephritis: a pilot study
Egyptian Journal of Medical Human Genetics Pub Date : 2024-03-14 , DOI: 10.1186/s43042-024-00507-4
Gloria Garavito De Egea , Alex Domínguez-Vargas , Luis Fang , Nicole Pereira-Sanandrés , Jonathan Rodríguez , Gustavo Aroca-Martinez , Zilac Espítatela , Clara Malagón , Antonio Iglesias-Gamarra , Ana Moreno-Woo , Guillermo López-Lluch , Eduardo Egea

Adiponectin and leptin are pivotal in the regulation of metabolism. Pediatric lupus nephritis (pLN), a manifestation of childhood systemic lupus erythematosus (SLE) affecting the kidneys, is associated with impaired adipokine levels, suggesting a role in pLN pathogenesis. The aim of this study was to explore the potential relationship between specific single-nucleotide polymorphisms (SNPs)—methylenetetrahydrofolate reductase (MTHFR) rs1801131 and fibrinogen gamma chain (FGG) rs2066865—and the serum levels of leptin and adiponectin in patients with pLN. Ninety-eight pLN patients and one hundred controls were enrolled in the study. Serum leptin and adiponectin levels were measured using ELISA. DNA extraction and real-time PCR genotyping were performed for MTHFR rs1801131 and FGG rs2066865 SNPs. Compared to healthy controls, pLN patients exhibited significantly greater serum leptin (11.3 vs. 18.2 ng/mL, p < 0.001) and adiponectin (18.2 vs. 2.7 ug/mL, p < 0.001). Adiponectin levels were positively correlated with proteinuria (p < 0.05), while leptin levels positively correlated with proteinuria, SLE disease activity index-2000 (SLEDAI-2K), and cyclophosphamide usage (all p < 0.05). There was no significant association between MTHFR rs1801131 or FGG rs2066865 SNPs and pLN in either codominant or allelic models (all p > 0.05). However, the AG genotype of FGG gene rs2066865 SNP was significantly associated with high leptin levels (> 15 ng/mL) (p = 0.01). Serum adiponectin and leptin levels are associated with pathological manifestations of pLN. High leptin levels are associated with the AG genotype of FGG rs2066865 SNP in pLN patients, suggesting direct involvement in disease progression and potential utility as a disease biomarker.

中文翻译:

探索小儿狼疮性肾炎中 MTHFR 和 FGG 多态性与血清脂联素和瘦素水平的相互作用:一项初步研究

脂联素和瘦素在新陈代谢的调节中至关重要。小儿狼疮性肾炎 (pLN) 是影响肾脏的儿童系统性红斑狼疮 (SLE) 的一种表现,与脂肪因子水平受损有关,表明其在 pLN 发病机制中发挥作用。本研究的目的是探讨特定单核苷酸多态性 (SNP)——亚甲基四氢叶酸还原酶 (MTHFR) rs1801131 和纤维蛋白原伽玛链 (FGG) rs2066865——与 pLN 患者血清瘦素和脂联素水平之间的潜在关系。98 名 pLN 患者和 100 名对照者参加了该研究。使用 ELISA 测量血清瘦素和脂联素水平。对 MTHFR rs1801131 和 FGG rs2066865 SNP 进行 DNA 提取和实时 PCR 基因分型。与健康对照相比,pLN 患者的血清瘦素(11.3 vs. 18.2 ng/mL,p < 0.001)和脂联素(18.2 vs. 2.7 ug/mL,p < 0.001)显着升高。脂联素水平与蛋白尿呈正相关(p < 0.05),而瘦素水平与蛋白尿、SLE 疾病活动指数-2000 (SLEDAI-2K) 和环磷酰胺的使用呈正相关(均 p < 0.05)。在共显性或等位基因模型中,MTHFR rs1801131 或 FGG rs2066865 SNP 与 pLN 之间没有显着相关性(所有 p > 0.05)。然而,FGG 基因 rs2066865 SNP 的 AG 基因型与高瘦素水平 (> 15 ng/mL) 显着相关 (p = 0.01)。血清脂联素和瘦素水平与pLN的病理表现相关。pLN 患者中高瘦素水平与 FGG rs2066865 SNP 的 AG 基因型相关,表明直接参与疾病进展以及作为疾病生物标志物的潜在用途。
更新日期:2024-03-15
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