To date, bipolar disorder (BD) genetic studies and polygenic risk scores (PRSs) for BD are based primarily on populations of European descent (EUR) and lack representation from other ancestries including Latin American (LAT). Here, we describe a new LAT cohort from the Mayo Clinic Bipolar Biobank (MCBB), a multisite collaboration with recruitment sites in the United States (EUR; 1,443 cases and 777 controls) and Mexico and Chile (LAT; 211 cases and 161 controls) and use the sample to explore the performance of a BD-PRS in a LAT population. Using results from the largest genome-wide association study of BD in EUR individuals, PRSice2 and LDpred2 were used to compute BD-PRSs in the LAT and EUR samples from the MCBB. PRSs explained up to 1.4% (PRSice) and 4% (LDpred2) of the phenotypic variance on the liability scale in the LAT sample compared to 3.8% (PRSice2) and 3.4% (LDpred2) in the EUR samples. Future larger studies should further explore the differential performance of different PRS approaches across ancestries. International multisite studies, such as this one, have the potential to address diversity-related limitations of prior genomic studies and ultimately contribute to the reduction of health disparities.

中文翻译：

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拉丁美洲样本双相情感障碍的多基因预测

迄今为止，双相情感障碍 (BD) 遗传学研究和 BD 多基因风险评分 (PRS) 主要基于欧洲血统 (EUR) 人群，缺乏包括拉丁美洲 (LAT) 在内的其他血统的代表性。在这里，我们描述了来自梅奥诊所双极生物库 (MCBB) 的新 LAT 队列，该队列是与美国（欧元；1,443 例病例和 777 例对照）以及墨西哥和智利（LAT；211 例病例和 161 例对照）的招募站点的多站点合作并使用样本探索 BD-PRS 在 LAT 人群中的表现。利用 EUR 个体 BD 的最大全基因组关联研究的结果，PRSice2 和 LDpred2 用于计算来自 MCBB 的 LAT 和 EUR 样本中的 BD-PRS。PRS 在 LAT 样本中解释了高达 1.4% (PRSice) 和 4% (LDpred2) 的责任量表表型方差，而在 EUR 样本中解释了 3.8% (PRSice2) 和 3.4% (LDpred2)。未来更大规模的研究应该进一步探讨不同血统的 PRS 方法的差异表现。国际多中心研究，例如这项研究，有可能解决先前基因组研究与多样性相关的局限性，并最终有助于减少健康差异。