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Type 2 diabetes mellitus: distribution of genetic markers in Kazakh population

机译:2型糖尿病:哈萨克族人群遗传标记的分布

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Background: Ethnic differences exist in the frequencies of genetic variations that contribute to the risk of common disease. This study aimed to analyse the distribution of several genes, previously associated with susceptibility to type 2 diabetes and obesity-related phenotypes, in a Kazakh population. Methods: A total of 966 individuals belonging to the Kazakh ethnicity were recruited from an outpatient clinic. We genotyped 41 common single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes in other ethnic groups and 31 of these were in Hardy–Weinberg equilibrium. The obtained allele frequencies were further compared to publicly available data from other ethnic populations. Allele frequencies for other (compared) populations were pooled from the haplotype map (HapMap) database. Principal component analysis (PCA), cluster analysis, and multidimensional scaling (MDS) were used for the analysis of genetic relationship between the populations. Results: Comparative analysis of allele frequencies of the studied SNPs showed significant differentiation among the studied populations. The Kazakh population was grouped with Asian populations according to the cluster analysis and with the Caucasian populations according to PCA. According to MDS, results of the current study show that the Kazakh population holds an intermediate position between Caucasian and Asian populations. Conclusion: A high percentage of population differentiation was observed between Kazakh and world populations. The Kazakh population was clustered with Caucasian populations, and this result may indicate a significant Caucasian component in the Kazakh gene pool.
机译:背景:种族差异存在于遗传变异的频率中,这些遗传变异会导致罹患常见疾病的风险。这项研究旨在分析哈萨克族人口中几个与2型糖尿病易感性和肥胖相关表型相关的基因的分布。方法:从门诊招募了966名哈萨克族人。我们对其他种族先前与2型糖尿病相关的41种常见单核苷酸多态性(SNP)进行了基因分型,其中31种处于Hardy-Weinberg平衡状态。将获得的等位基因频率与其他种族群体的公开数据作进一步比较。从单倍型图谱(HapMap)数据库汇总其他(比较)种群的等位基因频率。主成分分析(PCA),聚类分析和多维尺度分析(MDS)用于分析种群之间的遗传关系。结果:对所研究的SNPs等位基因频率的比较分析显示,所研究人群之间存在显着差异。根据聚类分析,哈萨克族人口与亚洲人口分组,而根据PCA,哈萨克族人口与白种人人口分组。根据MDS,当前研究的结果表明,哈萨克族人口在白种人和亚洲人口之间处于中间位置。结论:哈萨克人与世界人口之间存在很高的人口分化率。哈萨克族人口与高加索族聚在一起,这一结果可能表明哈萨克族基因库中有重要的高加索族组成。

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