Despite the dramatic underrepresentation of non-European populations in human genetics studies, researchers continue to exclude participants of non-European ancestry, as well as variants rare in European populations, even when these data are available. This practice perpetuates existing research disparities and can lead to important and large effect size associations being missed. Here, we conducted genome-wide association studies (GWAS) of 31 serum and urine biomarker quantitative traits in African (n = 9354), East Asian (n = 2559), and South Asian (n = 9823) ancestry UK Biobank (UKBB) participants. We adjusted for all known GWAS catalog variants for each trait, as well as novel signals identified in a recent European ancestry-focused analysis of UKBB participants. We identify 7 novel signals in African ancestry and 2 novel signals in South Asian ancestry participants (p < 1.61E−10). Many of these signals are highly plausible, including a cis pQTL for the gene encoding gamma-glutamyl transferase and PIEZO1 and G6PD variants with impacts on HbA1c through likely erythrocytic mechanisms. This work illustrates the importance of using the genetic data we already have in diverse populations, with novel discoveries possible in even modest sample sizes.

尽管非欧洲人群在人类遗传学研究中的代表性严重不足，但研究人员继续排除非欧洲血统的参与者，以及欧洲人群中罕见的变异，即使这些数据可用。这种做法使现有的研究差异永久化，并可能导致重要和大效应大小的关联被遗漏。在这里，我们对非洲（n  = 9354）、东亚（n  = 2559）和南亚（n = 9823) 祖先英国生物银行 (UKBB) 参与者。我们调整了每个性状的所有已知 GWAS 目录变体，以及最近对 UKBB 参与者进行的以欧洲血统为重点的分析中发现的新信号。我们在非洲血统参与者中发现了 7 个新信号，在南亚血统参与者中发现了 2 个新信号（p  < 1.61E-10）。其中许多信号非常合理，包括编码 γ-谷氨酰转移酶的基因的顺式pQTL 以及通过可能的红细胞机制影响 HbA1c 的PIEZO1和G6PD变体。这项工作说明了使用我们已经在不同人群中拥有的遗传数据的重要性，即使在适度的样本量中也有可能发现新的发现。