雅库特人脂肪酸脱饱和酶基因祖先单倍型 A 的高频率。

IF 1.1 4区 生物学 Q4 GENETICS & HEREDITY Genetic testing and molecular biomarkers Pub Date : 2024-08-01 Epub Date: 2024-06-11 DOI:10.1089/gtmb.2024.0085
Nadezhda I Pavlova, Alexey V Krylov, Alexey A Bochurov, Vladislav A Alekseev, Khariton A Kurtanov
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引用次数: 0

摘要

目的:本研究的目的是研究雅库特人的体重与 FADS1 - FADS2 区域多态性 rs174537、rs174546 和 rs3834458 的变异的相关性,以确定某些基因型与肥胖的联系。材料和方法:基因分型采用经典的 PCR-RFLP 分析方法。研究对象是没有慢性疾病的雅库特志愿者(143 名女性和 303 名男性),共 446 份 DNA 样本。结果显示在我们研究的所有群体中,SNPs rs174537、rs174546 和 rs3834458 的祖先等位基因占主导地位。对体重指数正常、体重指数偏高和肥胖患者的等位基因和基因型频率的几率比进行分析,结果显示没有统计学意义。我们没有发现 rs174537、rs174546 和 rs3834458 与肥胖有关联,但我们没有考虑受试者的饮食,而饮食可能对体重指数有更大的影响。对 FADS1 和 FADS2 基因中的 3 个 SNPs 进行配对连锁不平衡分析和单倍型评估后发现,这 3 个 SNPs 之间的连锁性很强(r2 = 0.93-0.96)。结论根据 SNP rs174537 的基因分型结果,单体型 A 在雅库特人群中的频率为 0.76,与世界其他数据相比,属于相当高的频率。这反过来又与短链多不饱和脂肪酸向长链多不饱和脂肪酸的转化率较低有关。因此,将营养转向更多的植物性食物会对雅库特人的健康产生负面影响。目前,人类对多不饱和脂肪酸(PUFAs)的确切用量尚未确定,但从所有建议主要以欧洲人口为基础这一事实来看,结合研究结果,雅库特人对多不饱和脂肪酸的需求特别大。
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High Frequency of Ancestral Haplotype A of Fatty Acid Desaturase Genes in the Yakut Population.

Aims: The purpose of this study was to study the correlation of the body weight of Yakuts with the variability of polymorphisms rs174537, rs174546 and rs3834458 of the FADS1 - FADS2 region to identify the connection of certain genotypes with obesity. Materials and Methods: For genotyping, classical methods of PCR-RFLP analysis were used. A sample of 446 DNA samples from Yakut volunteers without chronic diseases (143 women and 303 men) was studied. Results: The predominance of the ancestral alleles of SNPs rs174537, rs174546 and rs3834458 was established in all of our studied groups. Analysis of the odds ratio of allele and genotype frequencies in patients with normal BMI, high BMI and obesity did not show statistically significant values. We did not find an association between rs174537, rs174546 and rs3834458 with obesity, but we did not take into account the diet of the subjects, which may have had a stronger effect on BMI. Analysis of pairwise linkage disequilibrium and assessment of haplotypes for 3 SNPs in the FADS1 and FADS2 genes showed strong linkage of all three SNPs to each other (r2 = 0.93-0.96). Conclusions: According to the result of genotyping of SNP rs174537, the frequency of haplotype A in the Yakut population was 0.76 and, in comparison with other world data, is quite high. Which in turn is associated with lower conversion of short-chain polyunsaturated fatty acid to long-chain polyunsaturated fatty acid. Accordingly, a shift in nutrition towards more plant foods can negatively impact the health of the Yakuts. At the moment, the exact dosage of polyunsaturated fatty acids (PUFAs) for humans has not yet been established, but judging by the fact that all recommendations are mainly made on the basis of European populations, in connection with the results of the study, the Yakuts have a particularly high need for PUFAs.

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来源期刊
CiteScore
2.50
自引率
7.10%
发文量
63
审稿时长
1 months
期刊介绍: Genetic Testing and Molecular Biomarkers is the leading peer-reviewed journal covering all aspects of human genetic testing including molecular biomarkers. The Journal provides a forum for the development of new technology; the application of testing to decision making in an increasingly varied set of clinical situations; ethical, legal, social, and economic aspects of genetic testing; and issues concerning effective genetic counseling. This is the definitive resource for researchers, clinicians, and scientists who develop, perform, and interpret genetic tests and their results. Genetic Testing and Molecular Biomarkers coverage includes: -Diagnosis across the life span- Risk assessment- Carrier detection in individuals, couples, and populations- Novel methods and new instrumentation for genetic testing- Results of molecular, biochemical, and cytogenetic testing- Genetic counseling
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