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Relationship of lipid regulatory gene polymorphisms and dyslipidemia in a pediatric population: the CASPIAN III study

  • Silva Hovsepian
  • Shaghayegh Haghjooy Javanmard
  • Marjan Mansourian
  • Mohamadhasan Tajadini
  • Mahin Hashemipour
  • Roya Kelishadi
Original Article



In this study, we aimed to assess the association between four variants in three genes whose association has been reported in adults but not in children. We evaluated the relationship of the GCKR (rs780094), GCKR (rs1260333), FADS (rs174547), and MLXIPL (rs3812316) polymorphisms with serum lipid levels in Iranian children.


This cross-sectional study was conducted in a subpopulation of the CASPIAN III study. During this study, 550 frozen whole blood samples were selected randomly. Using the recorded information of selected cases, those with and without abnormal lipid levels were determined. Allelic and genotypic frequencies of GCKR (rs780094), GCKR (rs1260333), MLXIPL (rs3812316), and FADS (rs174547) polymorphisms were determined and compared in dyslipidemic and normal children. The association between the studied polymorphisms and lipid profiles was determined using logistic regression analysis.


Prevalence of hypercholesterolemia, hypertriglyceridemia, high low-density lipoprotein cholesterol (LDL-C), and low high-density lipoprotein cholesterol (HDL-C) were 24.9, 34.5, 19.0, and 40.7%, respectively. Significant correlations were found between GCKR (rs780094) and GCKR (rs1260333) polymorphisms and cholesterol and triglyceride levels, between FADS (rs174547) polymorphism and level of triglyceride, and also between MLXIPL (rs3812316) and levels of HDL-C.


The results of this population-based study provide evidence for a relationship between lipid regulatory gene polymorphisms including GCKR (rs780094), GCKR (rs1260333), FADS (rs174547), and MLXIPL (rs3812316) with dyslipidemia in an Iranian population. These results could provide baseline information on as well as further insight into the genetic makeup of lipid profiles in Iranian children, which could be used for preventative strategies.


Dyslipidemia Children Polymorphism Glucokinase regulatory protein MLX interacting protein-like protein FADS1 protein 


Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Hellenic Endocrine Society 2018

Authors and Affiliations

  • Silva Hovsepian
    • 1
  • Shaghayegh Haghjooy Javanmard
    • 2
  • Marjan Mansourian
    • 3
  • Mohamadhasan Tajadini
    • 2
  • Mahin Hashemipour
    • 4
  • Roya Kelishadi
    • 5
  1. 1.Pediatrics Department, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Emam Hossein Children’s HospitalIsfahan University of Medical SciencesIsfahanIran
  2. 2.Applied Physiology Research CenterIsfahan University of Medical SciencesIsfahanIran
  3. 3.Department of Biostatistics and Epidemiology, School of HealthIsfahan University of Medical SciencesIsfahanIran
  4. 4.Pediatrics Department, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan Endocrine and Metabolism Research CenterIsfahan University of Medical SciencesIsfahanIran
  5. 5.Pediatrics Department, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-communicable DiseaseIsfahan University of Medical SciencesIsfahanIran

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