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Common Genetic Variation and the Control of HIV-1 in Humans

机译:人类的常见遗传变异和HIV-1的控制

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To extend the understanding of host genetic determinants of HIV-1 control, we performed a genome-wide association study in a cohort of 2,554 infected Caucasian subjects. The study was powered to detect common genetic variants explaining down to 1.3% of the variability in viral load at set point. We provide overwhelming confirmation of three associations previously reported in a genome-wide study and show further independent effects of both common and rare variants in the Major Histocompatibility Complex region (MHC). We also examined the polymorphisms reported in previous candidate gene studies and fail to support a role for any variant outside of the MHC or the chemokine receptor cluster on chromosome 3. In addition, we evaluated functional variants, copy-number polymorphisms, epistatic interactions, and biological pathways. This study thus represents a comprehensive assessment of common human genetic variation in HIV-1 control in Caucasians.
机译:为了扩展对HIV-1控制的宿主遗传决定因素的理解,我们对2554名受感染的白种人受试者进行了全基因组关联研究。该研究能够检测常见的遗传变异,从而解释了在设定点病毒载量变异性低至1.3%的情况。我们提供了先前在全基因组研究中报告的三个关联的压倒性证实,并显示了主要组织相容性复合体区域(MHC)中常见和罕见变体的进一步独立影响。我们还检查了先前候选基因研究中报道的多态性,但未能支持MHC或3号染色体上趋化因子受体簇以外的任何变体的作用。此外,我们评估了功能性变体,拷贝数多态性,上位性相互作用和生物途径。因此,这项研究代表了对高加索人HIV-1控制中常见人类遗传变异的全面评估。

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