Maculewicz Ewelina, Mastalerz Andrzej, Maciejewska-Skrendo Agnieszka, Cięszczyk Paweł, Cywińska Anna, Borecka Anna, Garbacz Aleksandra, Szarska Ewa, Dziuda Łukasz, Lorenz Katarzyna, Łakomy Roman, Lepionka Tomasz, Anyżewska Anna, Białek Agnieszka, Bertrandt Jerzy
Faculty of Physical Education, Jozef Pilsudski University of Physical Education in Warsaw, 00-809 Warsaw, Poland.
Faculty of Physical Education, Gdansk University of Physical Education and Sport, 80-336 Gdansk, Poland.
Biol Sport. 2021 Oct;38(4):767-776. doi: 10.5114/biolsport.2022.109957. Epub 2021 Dec 28.
Peroxisome proliferator-activated receptors (PPARs) have unique functions in energy metabolism regulation but are also involved in regulation of the inflammatory process and obesity. The aim of this study was to analyse potential associations between polymorphisms of (rs1800206), (rs1053049; rs2267668) and (rs1801282) and overweight parameters. One hundred and sixty-six males, unrelated Caucasian military professionals, were recruited in the genetic case-control study conducted in the period 2016-2019. All the participants were aged 21-41 and had similar levels of physical activity. Body mass, height and body composition were measured. The participants were divided into two groups depending on their BMI (body mass index) and FMI (fat mass index). The control group consisted of people with BMI between 20.0 and 25.0 or FMI values ≤ 6, while the overweight group consisted of people with BMI of ≥ 25.0 or FMI values > 6. Genomic DNA was isolated from extracted buccal cells. All samples were genotyped using real-time polymerase chain reaction (real-time PCR). It was found that two polymorphisms rs2267668 and rs1053049 of the gene were significantly associated with BMI: SNP rs2267668 for the dominant (OR = 2.04, 95%CI 1.01-4.11, p-value = 0.04) model (A/G-G/G vs A/A). The likelihood of being overweight was over 2 times smaller for allele A. A relationship between the polymorphism of (rs1801282) and BMI was found for the overdominant (OR = 2.03, 95%CI 1.03-4.00, p-value = 0.04) model (C/G vs C/C-G/G). Significant associations were found in different models for , and genes with BMI. In SNP rs2267668 for the codominant genetic model (G/G vs A/A) (p-value = 0.04) and in SNP rs1053049 for the codominant (C/C vs T/T) (p-value = 0.01) and the recessive genetic model (C/C vs T/T-C/T) (p-value = 0.004) all polymorphisms were associated with BMI. In conclusion, it was found that three of the four polymorphisms (rs1053049, rs2267668, rs1801282) selected are associated with the risk of being overweight. Having said that, one has to bear in mind that DNA variants do not fully explain the reasons for being overweight. Therefore more research is needed to make a thorough assessment using the latest genomic methods in sequencing and genotyping, combined with epigenomics, proteomics, transcriptomics, and metabolomics.
过氧化物酶体增殖物激活受体(PPARs)在能量代谢调节中具有独特功能,但也参与炎症过程和肥胖的调节。本研究的目的是分析 (rs1800206)、 (rs1053049;rs2267668)和 (rs1801282)基因多态性与超重参数之间的潜在关联。在2016年至2019年期间进行的基因病例对照研究中,招募了166名无亲缘关系的白种男性军事专业人员。所有参与者年龄在21 - 41岁之间,身体活动水平相似。测量了体重、身高和身体成分。根据体重指数(BMI)和脂肪量指数(FMI)将参与者分为两组。对照组由BMI在20.0至25.0之间或FMI值≤6的人组成,而超重组由BMI≥25.0或FMI值>6的人组成。从提取的颊细胞中分离基因组DNA。所有样本均使用实时聚合酶链反应(实时PCR)进行基因分型。发现 基因的两个多态性rs2267668和rs1053049与BMI显著相关:SNP rs2267668在显性模型(OR = 2.04,95%CI 1.01 - 4.11,p值 = 0.04)(A/G - G/G vs A/A)中。等位基因A超重的可能性要小2倍以上。发现 (rs1801282)基因多态性与BMI在超显性模型(OR = 2.03,95%CI 1.03 - 4.00,p值 = 0.04)(C/G vs C/C - G/G)中有相关性。在不同模型中发现 、 和 基因与BMI有显著关联。在SNP rs2267668的共显性遗传模型(G/G vs A/A)(p值 = 0.04)以及SNP rs1053049的共显性(C/C vs T/T)(p值 = 0.01)和隐性遗传模型(C/C vs T/T - C/T)(p值 = 0.004)中,所有多态性均与BMI相关。总之,发现所选的四个多态性中的三个(rs1053049、rs2267668、rs1801282)与超重风险相关。话虽如此,必须记住DNA变异并不能完全解释超重的原因。因此,需要更多研究使用测序和基因分型的最新基因组方法,并结合表观基因组学、蛋白质组学、转录组学和代谢组学进行全面评估。