白俄罗斯人群中FTO多态性变异与肥胖之间的关系

M. Ameliyanovich, M. Lushchyk, I. Mosse, L. Danilova
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摘要

超重和肥胖是指人体脂肪组织的异常和过度沉积,对健康造成重大危害。不幸的是,超重人群的数量一直呈持续上升的趋势。肥胖的发展可能是由过多的食物摄入、低体力活动和遗传易感性共同引起的。通过对肥胖个体基因型的研究,我们可以识别出一些基因的多态性变异,这些变异会导致体重过度增加的遗传倾向。肥胖最重要的预测因子之一是FTO基因(一种脂肪量和肥胖相关基因)。对白俄罗斯共和国655名代表的FTO基因进行了13个多态性变异的基因分型。外周静脉血样本进行基因组DNA提取。实时荧光定量PCR检测FTO基因的多态性变异。FTO基因8个多态变异的基因型与体重指数存在显著相关性:多态变异rs11075990、rs1121980、rs1421085、rs17817449、rs3751812、rs9939609、rs9940128和rs9941349的小纯合子携带者的体重指数(BMI)显著高于相应的大纯合子携带者,P = 0.0022 ~ 0.021。对FTO基因13个多态性变异的连锁不平衡进行了分析。结果表明,8个FTO基因多态性变异与BMI呈显著相关,构成了1个连锁不平衡区(r2 = 0.82 ~ 1.0, P < 0.001),形成了a /G/T/T/G/ C(51.9%)和G/ a /C/G/T/ a / a /T(42.8%)两种最常见的单倍型。因此,为了确定肥胖发展的风险,对这些多态变异之一进行基因检测就足够了。这极大地促进了确定超重遗传倾向的过程。
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Association between the FTO polymorphic variants and obesity in the Belarusian population
Overweight and obesity refer to the abnormal and excessive deposition of adipose tissue in the human body causing significant harm to health. Unfortunately, there has always been a persisting upward trend in the number of overweight people. The development of obesity may be caused by a combination of excessive food intake, low physical activity, and a hereditary predisposition to it. Studies of the genotypes of obese individuals allowed identifying a number of polymorphic variants of genes that contribute to a genetic predisposition to an excessive weight gain. One of the most significant predictors of obesity is the FTO gene (a fat mass and obesity-associated gene). Genotyping of 655 representatives of the Republic of Belarus was carried out for 13 polymorphic variants of the FTO gene. Genomic DNA extraction was carried out from the peripheral venous blood samples. Real-time PCR was performed for the evaluation of polymorphic variants of the FTO gene. A significant association of the genotype with the body mass index was observed in eight polymorphic variants of the FTO gene: In the carriers of minor homozygotes of polymorphic variants rs11075990, rs1121980, rs1421085, rs17817449, rs3751812, rs9939609, rs9940128, and rs9941349, the body mass index (BMI) was much higher compared with the carriers of corresponding major homozygotes P = 0.0022 – 0.021. An analysis of the linkage disequilibrium of 13 polymorphic variants of the FTO gene was carried out. It was found that eight polymorphic variants of the FTO gene for which a statistically significant association with BMI was shown constitute one block of linkage disequilibrium (r2 = 0.82 – 1.0, P < 0.001) and form two most common haplotypes: A/G/T/T/G/T/G/C (51.9%) and G/A/C/G/T/A/A/T (42.8%). Therefore, to determine the risk for obesity development, it is sufficient to conduct genetic testing for one of these polymorphic variants. This greatly facilitates the process of determining a genetic predisposition to excess weight.
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