Association of DLK1 SNPs with body mass index and plasma lipid levels in children

IF 3.3 3区 医学 Q1 PEDIATRICS Pediatric Research Pub Date : 2025-03-21 DOI:10.1038/s41390-025-04005-0
Olga Pomares, Jorge Laborda, Claudia Vales-Villamarín, Iris Pérez-Nadador, Francisco. J. Mejorado-Molano, Alejandro Parra-Rodríguez, Ignacio Mahillo-Fernández, Leandro Soriano-Guillén, Carmen Garcés
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Abstract

The DLK1 human gene encodes for the transmembrane EGF-like repeat-containing protein DLK1, which acts as a modulator of adipogenesis. A role for DLK1 in energy metabolism and lipid homeostasis has been suggested and DLK1 gene variants have been related to pubertal development. The aim of this study was to uncover DLK1 SNPs in a cohort of children and analyze their relationship with anthropometric and biochemical variables. Our population-based sample comprises 1237 healthy 6-to-8-year-old Caucasian children. The presence of five DLK1 SNPs (rs1802710, rs876374, rs7155375, rs57098752, and rs7149242) was analyzed by Real-Time PCR, using predesigned TaqMan™ Genotyping Assays. We observed that the SNPs rs1802710 and rs876374 were associated with BMI, and the prevalence of these two SNPs was different in normal-weight children compared to children with obesity. Related to biochemical variables, we found a significant association of the SNPs rs1802710, rs876374, and rs57098752 and their combination with Apo-B plasma concentrations after adjusting by BMI and sex. The SNPs rs1802710 and rs57098752 were also significantly associated with plasma levels of LDL-C and HDL-C, respectively. Our study reveals that DLK1 gene variants may influence both body weight and lipid homeostasis, affecting particularly to the Apo-B biology, in children.

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DLK1 snp与儿童体重指数和血脂水平的关系
背景:DLK1人类基因编码跨膜egf样重复包含蛋白DLK1,其作为脂肪形成的调节剂。DLK1在能量代谢和脂质稳态中的作用已被提出,DLK1基因变异与青春期发育有关。目的:本研究的目的是揭示儿童队列中的DLK1 snp,并分析其与人体测量和生化变量的关系。方法:我们以人群为基础的样本包括1237名6至8岁的健康高加索儿童。采用预先设计的TaqMan™基因分型方法,通过Real-Time PCR分析5个DLK1 snp (rs1802710、rs876374、rs7155375、rss57098752和rs7149242)的存在。结果:我们观察到snp rs1802710和rs876374与BMI相关,并且这两个snp在正常体重儿童和肥胖儿童中的患病率不同。在生化变量方面,经BMI和性别调整后,我们发现snp rs1802710、rs876374和rss57098752及其组合与载脂蛋白b血药浓度存在显著相关性。snp rs1802710和rss57098752也分别与血浆LDL-C和HDL-C水平显著相关。结论:我们的研究表明DLK1基因变异可能影响儿童的体重和脂质稳态,特别是影响载脂蛋白b生物学。影响:DLK1多态性与生命早期的BMI和脂质水平相关,独立于BMI。我们的数据为现有文献提供了DLK1基因变异影响脂质代谢的证据。在人群水平上,DLK1遗传变异与人体测量和脂质变量相关的证实,维持了DLK1在肥胖和相关疾病中的作用,并应导致进一步的研究,旨在阐明这种影响。
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来源期刊
Pediatric Research
Pediatric Research 医学-小儿科
CiteScore
6.80
自引率
5.60%
发文量
473
审稿时长
3-8 weeks
期刊介绍: Pediatric Research publishes original papers, invited reviews, and commentaries on the etiologies of children''s diseases and disorders of development, extending from molecular biology to epidemiology. Use of model organisms and in vitro techniques relevant to developmental biology and medicine are acceptable, as are translational human studies
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