Leptin gene polymorphism (rs7799039; G2548A) is associated with changes in serum lipid concentrations during pregnancy: a prospective cohort study

  • Dayana Rodrigues Farias
  • Nadya Helena Alves-Santos
  • Ilana Eshriqui
  • Maisa Cruz Martins
  • Cláudio J. Struchiner
  • Jaqueline Lepsch
  • Nathalia Costa
  • Gilberto KacEmail author
Original Contribution



Little is known about the effects of leptin and leptin receptor polymorphisms on lipid changes during pregnancy. The aims of this study were to evaluate the associations between the single nucleotide polymorphisms (SNPs) of leptin and leptin receptor genes and the lipid concentrations during pregnancy; and to test whether dietary intake is a mediator in these associations.


A prospective cohort of 154 pregnant women was followed up in Rio de Janeiro, Brazil during the following gestational periods: 5–13th, 20–26th and 30–36th weeks. HDL-C, total cholesterol (TC) and triglyceride (TG) were measured by the enzymatic colorimetric method, and LDL-C was calculated. DNA was extracted by the phenol–chloroform method, and leptin (G2548A, rs7799039) and leptin receptor SNPs (Q223R; rs1137101 and K109R; rs1137100) were genotyped using real-time PCR. Statistical analyses included linear mixed-effect models.


Women with the AA genotype of G2548A polymorphism reported a higher fat and total energy intake and had a higher increase in TG concentration during pregnancy than women with AG or GG genotype. The association between G2548A SNP and TG concentrations was not attenuated by adjusting for total lipid (g) and energy (kcal) intake. We did not observe significant associations between the Q223R and K109R SNPs and the lipid concentrations.


Women homozygous for the A allele of the leptin SNP (G2548A) had a higher increase in TG concentrations per gestational week compared with women with the AG or GG genotype. This is an exploratory and hypothesis-generating study, and the results need confirmation in studies with larger sample sizes.’


Leptin gene polymorphism Leptin receptor polymorphism Cholesterol Lipids Dietary intake Pregnancy 



We would like to acknowledge Professor Rosane Silva for her technical support in the genotyping analysis and allowing us to conduct DNA extraction in the Laboratory of Macromolecular Metabolism Firmino Torres de Castro, Biophysics Institute, Rio de Janeiro Federal University (UFRJ). We also thank Professor Maria das Graças Tavares do Carmo for allowing us to work at the Laboratory of Nutritional Biochemistry of the Nutrition Institute, UFRJ. The study was funded by the National Council for Scientific and Technological Development (CNPq) and the Carlos Chagas Filho Foundation for Research Support of Rio de Janeiro State (FAPERJ). Kac G and Struchiner C are researcher fellows from CNPq. Farias DR has received scholarships from the Coordination for the Improvement of Higher Education Personnel during the development of the study.

Compliance with ethical standards

Conflict of interest

On behalf of all authors, the corresponding author states that there is no conflict of interest.

Ethical standards

The study protocol was approved by Ethics Committee of Maternity Hospital of Federal University of Rio de Janeiro (protocol: 0023.0.361.000-08) and by the research ethics committee of the Municipal Secretary of Health of Rio de Janeiro city (protocol: 0139.0.314.000–09). All participants signed a term of consent, which was obtained freely and spontaneously, after all necessary clarifications had been provided. All ethical procedures of this study involving human beings followed the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments and Brazilian Resolution 196/96.

Supplementary material

394_2019_2049_MOESM1_ESM.docx (40 kb)
Supplementary material 1 (DOCX 40 kb)


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  • Dayana Rodrigues Farias
    • 1
  • Nadya Helena Alves-Santos
    • 1
  • Ilana Eshriqui
    • 1
  • Maisa Cruz Martins
    • 1
  • Cláudio J. Struchiner
    • 2
  • Jaqueline Lepsch
    • 1
  • Nathalia Costa
    • 1
  • Gilberto Kac
    • 1
    Email author
  1. 1.Nutritional Epidemiology Observatory, Department of Social and Applied Nutrition, Institute of Nutrition Josué de CastroFederal University of Rio de JaneiroRio de JaneiroBrazil
  2. 2.Escola de Matemática Aplicada, Fundação Getúlio VargasRio de JaneiroBrazil

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