Related Experiment Video
Updated: Jun 12, 2026

Sample Preparation to Bioinformatics Analysis of DNA Methylation: Association Strategy for Obesity and Related Trait Studies
Published on: May 6, 2022
G(-2548)A leptin gene polymorphism in obese subjects is associated with serum leptin concentration and bone mass
Edward Franek1, Jacek Nowak, Krzysztof Safranow
1Department of Internal Diseases, Endocrinology and Diabetology, Central Clinical Hospital, Ministry for Internal Affairs, Warsaw, Poland. edward.franek@cskmswia.pl
Introduction:
Clinical studies have shown either positive or in some other cases negative correlations between leptinemia and bone mineral density (BMD) or bone mineral content (BMC).
Objectives:
The aim of the present study was to assess whether these discrepancies might be associated with the effect of G(-2548)A leptin or A326G and A668G leptin receptor gene polymorphisms on serum leptin concentrations or BMD and BMC.
Patients And Methods:
The study included 72 obese patients (39 women and 33 men, aged 46 +/-8.8 years; body mass index [BMI] >30 kg/m2). In all subjects, serum creatinine, glucose, lipids, leptin, and insulin were determined. Total fat mass (TFM), BMC, and BMD were assessed using dual energy X-ray absorptiometry (Lunar DPX-L).
Results:
No significant correlations were observed between body mass composition parameters (TFM, lean mass, BMC) or BMD in relation to genotypes. A positive correlation was found between serum leptin concentration and BMI. An inverse association was observed between leptin concentrations and BMC. Multiple regression analysis showed independent correlations of leptinemia with sex (P <0.001), TFM (P <0.000 001), BMC (P = 0.0001), and the presence of (-2548)A allele of the leptin gene (P <0.05). These parameters together accounted for 83% of variability in serum leptin concentrations.
Conclusions:
In obese patients, serum leptin concentration shows an independent inverse correlation with BMD and male sex, but positively with TFM and the presence of -2548A allele of leptin gene. These parameters are responsible for 83% of leptin concentration variability. No correlations between the examined polymorphisms and BMC or BMD were found.
Related Concept Videos
Obesity
Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Pharmacokinetics in Obese Patients: Drug Absorption and Distribution
Pharmacokinetics in Obese Patients: Drug Metabolism and Excretion
Hormones and Bone Tissue
Hormones That Influence Osteoblasts and/or Maintain the Matrix
Several hormones are necessary for controlling bone growth and maintaining the bone matrix. The pituitary gland secretes growth hormone (GH), which, as its name implies, controls bone growth. This happens in several ways: first, it triggers chondrocyte...
Drug Dosing: Obese Patients