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基因多态性与塞尔维亚人群代谢综合征患病率增加的风险相关。

The Gene Polymorphism is associated with Increased Risk of Metabolic Syndrome Prevalence in the Serbian Population.

作者信息

Vučinić N, Stokić E, Djan I, Obreht D, Veličković N, Stankov K, Djan M

机构信息

University of Novi Sad, Faculty of Medicine, Department of Pharmacy, Novi Sad, Serbia.

Clinical Center of Vojvodina, Department of Endocrinology, and Metabolic Disorders, Novi Sad, Serbia.

出版信息

Balkan J Med Genet. 2017 Jun 30;20(1):51-58. doi: 10.1515/bjmg-2017-0004.

Abstract

The determination of genetic background in metabolic syndrome (MetS) represents one of the necessary steps to prevent the disorder, thus reducing the cost of medical treatments and helping to design targeted therapy. The study explores the association between individual alleles of the gene and the diagnosis of MetS to find correlation between the low-density lipoprotein receptor-related () gene polymorphism and each individual anthropometric and biochemical parameter. The study included 93 males and females, aged from 19 to 65, divided into two groups. The genotype of each person was determined from the restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) profile. Results indicated the association of the T allele form of exon 3 gene with development and progression of MetS that further pointed out its negative impact on tested anthropometric and biochemical parameters. The presence of the T allele in patients multiplies the chance of occurrence of deviations from the reference values of body mass index (BMI), (4.24-fold) and low-density lipoprotein (LDL) (20.26-fold) compared to C allele carriers. The results showed that T allele presence multiplies the chance (4.76 fold) for the occurrence of MetS in comparison to C allele carriers. Correlation found that the T allele of the gene with MetS determinants is not negligible, therefore, the T allele may be considered as a risk factor for MetS development.

摘要

代谢综合征(MetS)遗传背景的确定是预防该疾病的必要步骤之一,从而降低医疗成本并有助于设计针对性治疗方案。该研究探讨了该基因的各个等位基因与MetS诊断之间的关联,以寻找低密度脂蛋白受体相关()基因多态性与每个个体人体测量学和生化参数之间的相关性。该研究纳入了93名年龄在19至65岁之间的男性和女性,分为两组。通过限制性片段长度多态性-聚合酶链反应(RFLP-PCR)图谱确定每个人的基因型。结果表明,外显子3基因的T等位基因形式与MetS的发生和发展相关,这进一步指出了其对测试的人体测量学和生化参数的负面影响。与携带C等位基因的患者相比,患者中T等位基因的存在使体重指数(BMI)(4.24倍)和低密度脂蛋白(LDL)(20.26倍)偏离参考值的发生几率增加。结果表明,与携带C等位基因的患者相比,T等位基因的存在使MetS发生的几率增加(4.76倍)。相关性发现,该基因的T等位基因与MetS决定因素之间的关系不可忽视,因此,T等位基因可被视为MetS发生发展的一个风险因素。

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