ArticlemedRxiv : the preprint server for health sciences2025
African ancestry-enriched variants in the
Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Serum creatinine (Scr) levels are routinely used to estimate kidney function and health. Individuals of African ancestry have higher Scr levels - controlling for differences in age, sex, size, kidney function, and disease status - compared to individuals from other ancestral backgrounds. The reason for this difference is unknown. We hypothesized that there may be genetic variants found at relatively high frequency in African ancestry groups (African ancestry-enriched variants) that are associated with elevated Scr levels African ancestry individuals. Methods: Our study sample is made up of participants from the All of Us Research Program. We used whole genome sequence data to estimate genetic ancestry for All of Us participants and selected a cohort of 18,979 participants with two way African-European admixture, available Scr level measures, and demographic covariables. We performed a series of ancestry-informed association studies of Scr levels on this cohort to test our hypothesis of African ancestry-enriched variants associated with Scr. Results: Study participants show an average of 80.8% African and 17.5% European ancestry. Participant Scr levels are positively correlated with African ancestry for females ( Conclusions: Our findings indicate that African ancestry-enriched variants up-regulate the
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