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血统在南非混合人群结核病易感性中的作用。

The role of ancestry in TB susceptibility of an admixed South African population.

作者信息

Daya Michelle, van der Merwe Lize, van Helden Paul D, Möller Marlo, Hoal Eileen G

机构信息

Molecular Biology and Human Genetics, MRC Centre for Molecular and Cellular Biology, The DST/NRF Centre of Excellence for Biomedical TB Research, Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg 7505, South Africa.

Molecular Biology and Human Genetics, MRC Centre for Molecular and Cellular Biology, The DST/NRF Centre of Excellence for Biomedical TB Research, Faculty of Medicine and Health Sciences, Stellenbosch University, Tygerberg 7505, South Africa.

出版信息

Tuberculosis (Edinb). 2014 Jul;94(4):413-20. doi: 10.1016/j.tube.2014.03.012. Epub 2014 Apr 13.

Abstract

Genetic susceptibility to tuberculosis (TB) has been well established and this, taken together with variation in susceptibility observed between different geographic and ethnic populations, implies that susceptibility to TB may in part be affected by ethnicity. In a previous genome-wide TB case-control study (642 cases and 91 controls) of the admixed South African Coloured (SAC) population, we found a positive correlation between African San ancestry and TB susceptibility, and negative correlations with European and Asian ancestries. Since genome-wide data was available for only a small number of controls in the previous study, we endeavored to validate this finding by genotyping a panel of ancestry informative markers (AIMs) in additional individuals, yielding a data set of 918 cases and 507 controls. Ancestry proportions were estimated using the AIMs for each of the source populations of the SAC (African San, African non-San, European, South Asian and East Asian). Using logistic regression models to test for association between TB and ancestry, we confirmed the substantial effect of ancestry on TB susceptibility. We also investigated the effect of adjusting for ancestry in candidate gene TB association studies of the SAC. We report a polymorphism that is no longer significantly associated with TB after adjustment for ancestry, a polymorphism that is significantly associated with TB only after adjustment for ancestry, and a polymorphism where the association significance remains unchanged. By comparing the allele frequencies of these polymorphisms in the source populations of the SAC, we demonstrate that association results are likely to be affected by adjustment for ancestry if allele frequencies differ markedly in the source populations of the SAC.

摘要

结核病(TB)的遗传易感性已得到充分证实,再加上不同地理和种族人群之间观察到的易感性差异,这意味着对结核病的易感性可能部分受种族影响。在之前对南非混血有色人种(SAC)进行的全基因组结核病病例对照研究(642例病例和91例对照)中,我们发现非洲桑人血统与结核病易感性呈正相关,与欧洲和亚洲血统呈负相关。由于在之前的研究中全基因组数据仅适用于少数对照,我们通过对另外一些个体的一组祖先信息标记(AIMs)进行基因分型来努力验证这一发现,从而得到了一个包含918例病例和507例对照的数据集。使用AIMs对SAC的每个来源人群(非洲桑人、非洲非桑人、欧洲人、南亚人和东亚人)估计祖先比例。使用逻辑回归模型来检验结核病与祖先之间的关联,我们证实了祖先对结核病易感性有显著影响。我们还研究了在SAC的候选基因结核病关联研究中对祖先进行调整的效果。我们报告了一个多态性,在对祖先进行调整后与结核病不再显著相关,一个多态性仅在对祖先进行调整后与结核病显著相关,以及一个多态性其关联显著性保持不变。通过比较这些多态性在SAC来源人群中的等位基因频率,我们证明如果等位基因频率在SAC来源人群中有显著差异,关联结果可能会受到对祖先进行调整的影响。

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