Genomics and Computational Biology Graduate Program, USA.
Pac Symp Biocomput. 2023;28:233-244.
Widespread availability of antiretroviral therapies (ART) for HIV-1 have generated considerable interest in understanding the pharmacogenomics of ART. In some individuals, ART has been associated with excessive weight gain, which disproportionately affects women of African ancestry. The underlying biology of ART-associated weight gain is poorly understood, but some genetic markers which modify weight gain risk have been suggested, with more genetic factors likely remaining undiscovered. To overcome limitations in available sample sizes for genome-wide association studies (GWAS) in people with HIV, we explored whether a multi-ancestry polygenic risk score (PRS) derived from large, publicly available non-HIV GWAS for body mass index (BMI) can achieve high cross-ancestry performance for predicting baseline BMI in diverse, prospective ART clinical trials datasets, and whether that PRSBMI is also associated with change in BMI over 48 weeks on ART. We show that PRSBMI explained ∼5-7% of variability in baseline (pre-ART) BMI, with high performance in both European and African genetic ancestry groups, but that PRSBMI was not associated with change in BMI on ART. This study argues against a shared genetic predisposition for baseline (pre-ART) BMI and ART-associated weight gain.
抗逆转录病毒疗法(ART)的广泛应用使人们对理解 ART 的药物基因组学产生了浓厚的兴趣。在某些个体中,ART 与体重过度增加有关,而体重过度增加在非洲裔女性中不成比例地更为常见。ART 相关体重增加的潜在生物学机制尚未得到充分理解,但已经提出了一些可以改变体重增加风险的遗传标记物,可能还有更多的遗传因素尚未被发现。为了克服 HIV 患者全基因组关联研究(GWAS)中可用样本量的限制,我们探索了从大型、公开的非 HIV GWAS 中获得的多血统多基因风险评分(PRS)是否可以在不同的、前瞻性的 ART 临床试验数据集中实现预测基线 BMI 的高度跨血统性能,以及该 BMI-PRS 是否也与 ART 治疗 48 周后 BMI 的变化相关。我们发现,BMI-PRS 解释了基线(ART 前)BMI 变异的 5-7%,在欧洲和非洲血统群体中都具有较高的性能,但 BMI-PRS 与 ART 相关的 BMI 变化无关。这项研究表明,基线(ART 前)BMI 和 ART 相关的体重增加没有共同的遗传倾向。