Cardiovascular Research Center, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Center for Genomic Medicine, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.
Nat Commun. 2023 Oct 18;14(1):6535. doi: 10.1038/s41467-023-41985-1.
Arabs account for 5% of the world population and have a high burden of cardiometabolic disease, yet clinical utility of polygenic risk prediction in Arabs remains understudied. Among 5399 Arab patients, we optimize polygenic scores for 10 cardiometabolic traits, achieving a performance that is better than published scores and on par with performance in European-ancestry individuals. Odds ratio per standard deviation (OR per SD) for a type 2 diabetes score was 1.83 (95% CI 1.74-1.92), and each SD of body mass index (BMI) score was associated with 1.18 kg/m difference in BMI. Polygenic scores associated with disease independent of conventional risk factors, and also associated with disease severity-OR per SD for coronary artery disease (CAD) was 1.78 (95% CI 1.66-1.90) for three-vessel CAD and 1.41 (95% CI 1.29-1.53) for one-vessel CAD. We propose a pragmatic framework leveraging public data as one way to advance equitable clinical implementation of polygenic scores in non-European populations.
阿拉伯人占世界人口的 5%，其患心血管代谢疾病的负担很重，但针对阿拉伯人群的多基因风险预测的临床实用性仍研究不足。在 5399 名阿拉伯患者中，我们优化了 10 种心血管代谢特征的多基因评分，其表现优于已发表的评分，与欧洲血统个体的表现相当。2 型糖尿病评分的每标准差（OR per SD）为 1.83（95%CI 1.74-1.92），体重指数（BMI）评分每增加 1 个标准差（SD），BMI 就会增加 1.18kg/m。多基因评分与独立于传统风险因素的疾病相关，也与疾病严重程度相关——三血管 CAD 的冠状动脉疾病（CAD）OR per SD 为 1.78（95%CI 1.66-1.90），单血管 CAD 为 1.41（95%CI 1.29-1.53）。我们提出了一个实用框架，利用公共数据作为在非欧洲人群中推进多基因评分公平临床应用的一种方式。
