炎症基因与 1 型糖尿病风险的多位点关联。
Multilocus associations of inflammatory genes with the risk of type 1 diabetes.
机构信息
Institute of Biochemistry and Genetics of Ufa Federal Research Centre of Russian Academy of Sciences, 71 October Avenue, 450054 Ufa, Russian Federation; Section of Genomics of Common Disease, Department of Medicine, Imperial College London, Hammersmith Hospital Campus, Burlington Danes Building, Du Cane Road, London W12 0NN, United Kingdom; Bashkir State Medical University, 3 Lenin street, 450000 Ufa, Russian Federation.
Section of Genomics of Common Disease, Department of Medicine, Imperial College London, Hammersmith Hospital Campus, Burlington Danes Building, Du Cane Road, London W12 0NN, United Kingdom; Bashkir State Medical University, 3 Lenin street, 450000 Ufa, Russian Federation.
出版信息
Gene. 2019 Jul 30;707:1-8. doi: 10.1016/j.gene.2019.04.085. Epub 2019 May 2.
BACKGROUND
Genome-wide association studies have captured a large proportion of genetic variation related to type 1 diabetes mellitus (T1D). However, most of these studies are performed in populations of European ancestry and therefore the disease risk estimations can be inaccurate when extrapolated to other world populations.
METHODS
We conducted a case-control study in 1866 individuals from the three major populations of the Republic of Bashkortostan (Russians, Tatars, and Bashkirs) in Russian Federation, using single-locus and multilocus approach to identify genetic predictors of T1D.
RESULTS
We found that LTA rs909253 and TNF rs1800629 polymorphisms were associated with T1D in the group of Tatars. Meta-analysis of the association study results in the three ethnic groups has confirmed the association between the T1D risk and LTA rs909253 genetic variant. LTA rs909253 and TNF rs1800629 loci were also featured in combinations most significantly associated with T1D.
CONCLUSION
Our findings suggest that LTA rs909253 and TNF rs1800629 polymorphisms are associated with the risk of T1D both independently and in combination with polymorphic markers in other inflammatory genes, and the analysis of multi-allelic combinations provides valuable insight in the study of polygenic traits.
背景
全基因组关联研究已经捕获了与 1 型糖尿病（T1D）相关的大部分遗传变异。然而，这些研究大多是在欧洲血统的人群中进行的，因此当外推到其他世界人群时，疾病风险估计可能不准确。
方法
我们在俄罗斯联邦的巴什科尔托斯坦共和国的三个主要人群（俄罗斯人、鞑靼人和巴什基尔人）的 1866 名个体中进行了病例对照研究，使用单基因座和多基因座方法来识别 T1D 的遗传预测因子。
结果
我们发现 LTA rs909253 和 TNF rs1800629 多态性与鞑靼人群中的 T1D 相关。对三个族裔群体的关联研究结果的荟萃分析证实了 LTA rs909253 遗传变异与 T1D 风险之间的关联。LTA rs909253 和 TNF rs1800629 基因座也以与 T1D 最显著相关的组合形式出现。
结论
我们的研究结果表明，LTA rs909253 和 TNF rs1800629 多态性与 T1D 的风险相关，无论是独立的还是与其他炎症基因中的多态性标记相结合，对多等位基因组合的分析为多基因性状的研究提供了有价值的见解。
Zotero 插件