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单核苷酸多态性 rs7961894、血小板形态参数和血脂谱与 1 型糖尿病患儿的关系:一项潜在的关联研究。

Single nucleotide polymorphism rs7961894, platelet morphological parameters and lipid profile in children with type 1 diabetes: a potential relationship.

机构信息

Department of Pediatrics, Faculty of Medicine, Menoufia University, Yassin Abdel-Ghafar Street, Shebin El-Kom, Egypt.

Clinical Biochemistry and Molecular Diagnostics Department, National Liver Institute, Menoufia University, Shebin El-Kom, Egypt.

出版信息

Eur J Pediatr. 2024 Oct;183(10):4385-4395. doi: 10.1007/s00431-024-05694-1. Epub 2024 Aug 5.

DOI:10.1007/s00431-024-05694-1
PMID:39098887
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11413092/
Abstract

Increased cardiovascular risk has been associated with certain platelet morphological parameters, and several single nucleotide polymorphisms (SNPs) have been reported to be linked. Still, little is known about their role among children with type 1 diabetes mellitus (T1DM). So, we aimed to investigate platelet parameters and lipid profile changes in relation to rs7961894 SNP in children with T1DM. Eighty children with T1DM and eighty apparently healthy controls participated in this cross-sectional study. Platelet count, mean platelet volume (MPV), platelet distribution width (PDW), plateletcrit (PCT), HbA1c, triglycerides, total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), and high-density lipoprotein cholesterol were measured, and atherogenic indices were calculated. Using a real-time polymerase chain allelic discrimination technique, rs7961894 SNP was genotyped. Children with T1DM had significantly higher MPV, PDW, TC, and LDL-C compared to controls. 25% of patients had rs7961894 CT genotype with significantly higher MPV, PDW, PCT, LDL-C, triglycerides, Castelli's risk index II (CRI II), and atherogenic index of plasma (AIP) compared to CC genotyped patients. MPV correlated significantly with CRI II and AIP, PDW with CRI II, while PCT correlated substantially with HbA1c, LDL-C, CRI II, and AIP. rs7961894 CT genotype was a significant dependent predictor of the changes in MPV, PDW, and PCT in multivariate regression analysis.Conclusion: In children with T1DM, rs7961894 CT genotype is significantly linked to MPV, PDW, and PCT changes, which showed a substantial relationship to CRI II and AIP, highlighting the importance of monitoring these patients to identify potential cardiovascular risks early. What is Known: • Platelets and dyslipidemia are involved in atherosclerosis pathogenesis • Changes in platelet activity and morphological parameters in diabetes mellitus are contradictory • rs7961894 single nucleotide polymorphism is associated with significant changes in mean platelet volume (MPV) with no available data in children What is New: • Children with type 1 diabetes mellitus exhibited significantly higher values of MPV and platelet distribution width (PDW) • rs7961894 CT genotype was a dependent predictor of the changes in MPV, PDW, and plateletcrit (PCT) values • Diabetic children with the rs7961894 CT genotype showed substantial alterations in lipid parameters with a strong correlation between MPV, PDW, and PCT and Castelli's risk index II and the atherogenic index of plasma.

摘要

心血管风险增加与某些血小板形态参数有关,已有报道称一些单核苷酸多态性(SNP)与之相关。然而,关于它们在 1 型糖尿病(T1DM)患儿中的作用知之甚少。因此,我们旨在研究血小板参数和血脂谱变化与 T1DM 患儿 rs7961894 单核苷酸多态性的关系。

本横断面研究纳入了 80 名 T1DM 患儿和 80 名健康对照者。测量了血小板计数、平均血小板体积(MPV)、血小板分布宽度(PDW)、血小板压积(PCT)、糖化血红蛋白(HbA1c)、甘油三酯、总胆固醇(TC)、低密度脂蛋白胆固醇(LDL-C)和高密度脂蛋白胆固醇,并计算了致动脉粥样硬化指数。采用实时聚合酶链等位基因鉴别技术对 rs7961894 SNP 进行基因分型。

与对照组相比,T1DM 患儿的 MPV、PDW、TC 和 LDL-C 显著升高。25%的患者存在 rs7961894 CT 基因型,与 CC 基因型患者相比,其 MPV、PDW、PCT、LDL-C、甘油三酯、Castelli 风险指数 II(CRI II)和血浆致动脉粥样硬化指数(AIP)显著升高。MPV 与 CRI II 和 AIP 显著相关,PDW 与 CRI II 相关,而 PCT 与 HbA1c、LDL-C、CRI II 和 AIP 显著相关。多变量回归分析显示,rs7961894 CT 基因型是 MPV、PDW 和 PCT 变化的显著依赖预测因子。

结论

在 T1DM 患儿中,rs7961894 CT 基因型与 MPV、PDW 和 PCT 变化显著相关,与 CRI II 和 AIP 有显著关系,这突显了对这些患者进行监测以早期识别潜在心血管风险的重要性。

已知

  1. 血小板和血脂异常参与动脉粥样硬化的发病机制;

  2. 糖尿病患者血小板活性和形态参数的变化存在矛盾;

  3. rs7961894 单核苷酸多态性与平均血小板体积(MPV)的显著变化相关,但在儿童中尚无可用数据。

新发现

  1. 1 型糖尿病患儿的 MPV 和血小板分布宽度(PDW)值显著升高;

  2. rs7961894 CT 基因型是 MPV、PDW 和血小板压积(PCT)值变化的依赖预测因子;

  3. 携带 rs7961894 CT 基因型的糖尿病患儿的血脂参数发生实质性改变,MPV、PDW 和 PCT 与 Castelli 风险指数 II 和血浆致动脉粥样硬化指数之间存在强相关性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ee0f/11413092/98a76f8df396/431_2024_5694_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ee0f/11413092/98a76f8df396/431_2024_5694_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ee0f/11413092/98a76f8df396/431_2024_5694_Fig1_HTML.jpg

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