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Updated: Aug 13, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Association of common genetic variants with body mass index in Russian population
Aleksandra Berseneva1, Elena Kovalenko2, Ekaterina Vergasova2
1Obninsk Institute for Nuclear Power Engineering, Obninsk, Russia.
Background:
Overweight is the scourge of modern society and a major risk factor for many diseases. For this reason, understanding the genetic component predisposing to high body mass index (BMI) seems to be an important task along with preventive measures aimed at improving eating behavior and increasing physical activity.
Methods:
We analyzed genetic data of a European cohort (n = 21,080, 47.25% women, East Slavs ancestry >80%) for 5 frequently found genes in the context of association with obesity: IPX3 (rs3751723), MC4R (rs17782313), TMEM18 (rs6548238), PPARG (rs1801282) and FTO (rs9939609).
Results:
Our study revealed significant associations of FTO (rs9939609) (β = 0.37 (kg/m2)/allele, p = <2 × 10-16), MC4R (rs17782313) (β = 0.28 (kg/m2)/allele, p = 5.79 × 10-9), TMEM18 (rs6548238) (β = 0.29 (kg/m2)/allele, p = 2.43 × 10-8) with BMI and risk of obesity.
Conclusions:
The results confirm the contribution of FTO, M4CR, and TMEM18 genes to the mechanism of body weight regulation and control.
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