Svyatova Gulnara, Berezina Galina, Murtazaliyeva Alexandra, Dyussupov Altay, Belyayeva Tatyana, Faizova Raida, Dyussupova Azhar
Laboratory of Republican Medical Genetic Consultation, Scientific Center of Obstetrics, Gynecology, and Perinatology, Almaty 050020, Kazakhstan.
Department of General Medical Practice, Semey Medical University, Semey 071400, Kazakhstan.
Curr Issues Mol Biol. 2024 Sep 28;46(10):10913-10922. doi: 10.3390/cimb46100648.
The aim of this study was to conduct a comparative analysis of the population frequencies of the minor allele of polymorphic variants in the genes (rs7903146) and (rs1801282), based on the genome-wide association studies analysis data associated with the risk of developing prediabetes, in an ethnically homogeneous Kazakh population compared to previously studied populations worldwide. This study utilized a genomic database consisting of 1800 ethnically Kazakh individuals who were considered in healthy condition. Whole-genome genotyping was performed using Illumina OmniChip 2.5-8 arrays, which interrogated approximately 2.5 million single nucleotide polymorphisms. The distribution of genotypes for the (rs7903146) and (rs1801282) polymorphisms in the Kazakh sample was found to be in Hardy-Weinberg equilibrium ( > 0.05). The minor G allele of the "Asian" protective polymorphism rs1801282 in the gene was observed at a frequency of 13.8% in the Kazakh population. This suggests a potentially more significant protective effect of this polymorphism in reducing the risk of prediabetes among Kazakhs. The frequency of the unfavorable T allele of the insulin secretion-disrupting gene (rs7903146) in Kazakhs was 15.2%. Studying the associations of genetic markers for prediabetes enables the timely identification of "high-risk groups" and facilitates the implementation of effective preventive measures. Further results from replicative genomic research will help identify significant polymorphic variants of genes underlying the alteration of prediabetes status.
本研究的目的是,基于与糖尿病前期发病风险相关的全基因组关联研究分析数据,在一个种族同质的哈萨克族人群中,与全球先前研究的人群相比,对基因(rs7903146)和基因(rs1801282)中多态性变体的次要等位基因的人群频率进行比较分析。本研究使用了一个基因组数据库,该数据库由1800名被认为健康的哈萨克族个体组成。使用Illumina OmniChip 2.5 - 8芯片进行全基因组基因分型,该芯片检测了约250万个单核苷酸多态性。哈萨克族样本中基因(rs7903146)和基因(rs1801282)多态性的基因型分布处于哈迪 - 温伯格平衡(>0.05)。在哈萨克族人群中,基因中“亚洲人”保护性多态性rs1801282的次要G等位基因频率为13.8%。这表明该多态性在降低哈萨克族人患糖尿病前期风险方面可能具有更显著的保护作用。哈萨克族人中破坏胰岛素分泌的基因(rs7903146)的不利T等位基因频率为15.2%。研究糖尿病前期的遗传标记关联能够及时识别“高危人群”,并有助于实施有效的预防措施。复制性基因组研究的进一步结果将有助于确定导致糖尿病前期状态改变的基因的重要多态性变体。