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Background <p>The <i>DLK1</i> 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 <i>DLK1</i> gene variants have been related to pubertal development.</p> Objective <p>The aim of this study was to uncover <i>DLK1</i> SNPs in a cohort of children and analyze their relationship with anthropometric and biochemical variables.</p> Methods <p>Our population-based sample comprises 1237 healthy 6-to-8-year-old Caucasian children. The presence of five <i>DLK1</i> SNPs (rs1802710, rs876374, rs7155375, rs57098752, and rs7149242) was analyzed by Real-Time PCR, using predesigned TaqMan™ Genotyping Assays.</p> Results <p>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.</p> Conclusion <p>Our study reveals that <i>DLK1</i> gene variants may influence both body weight and lipid homeostasis, affecting particularly to the Apo-B biology, in children.</p> Impact <p><UnorderedList Mark="Bullet"> <ItemContent> <p><i>DLK1</i> polymorphisms are associated with BMI and with lipid levels, independently of BMI, early in life.</p> </ItemContent> <ItemContent> <p>Our data add to the existing literature the evidence that <i>DLK1</i> gene variants impact on lipid metabolism.</p> </ItemContent> <ItemContent> <p>The confirmation at the population level that <i>DLK1</i> genetic variants are associated with anthropometric and lipid variables sustains the role of DLK1 in obesity and related disorders and should lead to further studies aimed at clarifying this effect.</p> </ItemContent> </UnorderedList></p>

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

  • 期刊论文

  • 发表日期：

    2025年3月21日

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  • 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

摘要

Background

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.

Objective

The aim of this study was to uncover DLK1 SNPs in a cohort of children and analyze their relationship with anthropometric and biochemical variables.

Methods

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.

Results

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.

Conclusion

Our study reveals that DLK1 gene variants may influence both body weight and lipid homeostasis, affecting particularly to the Apo-B biology, in children.

Impact

DLK1 polymorphisms are associated with BMI and with lipid levels, independently of BMI, early in life.

Our data add to the existing literature the evidence that DLK1 gene variants impact on lipid metabolism.

The confirmation at the population level that DLK1 genetic variants are associated with anthropometric and lipid variables sustains the role of DLK1 in obesity and related disorders and should lead to further studies aimed at clarifying this effect.