Abstract
Melatonin regulates circadian rhythms, metabolism, and immunity. Its primary metabolite, 6-sulfatoxymelatonin (aMT6s), is a biomarker linked to cancer risk and metabolic disorders. However, genetic determinants of aMT6s remain poorly understood, with only one prior GWAS limited to an East Asian cohort. We conducted the first multi-ancestry genome-wide association meta-analysis of urinary aMT6s, integrating 11,744 participants from five cohorts: East Asians (Taiwan Biobank), European women (Nurses’ Health Studies), European men (MrOS), and multiethnic participants (MEC). aMT6s was measured from overnight or first-morning urine samples. Association analyses were conducted using both ancestry-aware meta-regression (MR-MEGA) and fixed-effects meta-analysis (METAL). Polygenic risk scores (PRS) were constructed with PRS-CSx and evaluated in phenome-wide analyses in the Mass General Brigham Biobank and UK Biobank. No genome-wide significant loci were identified, and previously reported East Asian signals were not replicated. At suggestive significance, 23 loci emerged, with eight supported by both MR-MEGA and METAL. Several loci showed ancestry-specific heterogeneity, suggesting that genetic associations with urinary aMT6s may vary by population context, although limited power and cohort heterogeneity may also contribute. PRS analyses identified associations with sleep duration and metabolic traits, including type 2 diabetes, but these findings require cautious interpretation. Overall, our results suggest that urinary aMT6s is influenced by a polygenic and potentially population-dependent genetic architecture. This study provides a multi-ancestry framework for investigating melatonin-related biomarkers and highlights the importance of careful interpretation across diverse populations.
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Data availability
GWAS summary statistics generated in this study have been deposited in the NHGRI-EBI GWAS Catalog under GCP ID: GCP001636 (https://www.ebi.ac.uk/gwas/deposition/bodyofwork/GCP001636 ). The corresponding accession numbers are: GCST90833020: METAL meta-analysis (https://www.ebi.ac.uk/gwas/studies/GCST90833020), GCST90833021: MRMEGA meta-analysis (https://www.ebi.ac.uk/gwas/studies/GCST90833021), GCST90833022: TWB GWAS (https://www.ebi.ac.uk/gwas/studies/GCST90833022), GCST90833023: NHS GWAS (https://www.ebi.ac.uk/gwas/studies/GCST90833023), GCST90833024: MrOS GWAS (https://www.ebi.ac.uk/gwas/studies/GCST90833024), GCST90833025: MEC GWAS (https://www.ebi.ac.uk/gwas/studies/GCST90833025), GCST90833026: METAL meta-analysis among European ancestry participants (https://www.ebi.ac.uk/gwas/studies/GCST90833026).
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Acknowledgements
The authors would like to thank Dr Sarah Coseo Markt for her generous support, guidance and data sharing, which was critical for the completion of this study.
Funding
This study was supported by European Union, European Research Council (ERC) Advanced Grant CLOCKrisk (grant number 101053225), Department of Epidemiology, Medical University of Vienna to PI Eva Schernhammer. Views and opinions expressed are however those of the author(s) only and do not necessarily reflect those of the European Union or the European Research Council Executive Agency. Neither the European Union nor the granting authority can be held responsible for them. Richmond is supported by Cancer Research UK (grant number C18281/A29019), the Medical Research Council Integrative Epidemiology Unit (grant number: MC_UU_0032/1) and the NIHR Oxford Health Biomedical Research Centre (grant number: NIHR203316). This research was conducted using the UK Biobank resource under application number 48576. We thank all the participants and staff of the UK Biobank for enabling us to conduct this research. Taiwan Biobank : Grants from the Ministry of Science and Technology in Taiwan (MOST 105-2314-B-182-062, MOST 106-2314-B-182-043), the Translational Medical Research Program of Academia Sinica (ASTM-108-01-04), National Taiwan University Hospital, Yunlin Branch Intramural Grant (NTUHYL106.X003, NTUHYL.107S004, NTUHYL 111.X019, NTUHYL110.X017) and Chang Gung University, Taoyuan, Taiwan (NMRPD1F154, NMRPD1G0711, and BMRPD08). NHS and NHS2: This work was supported by National Institute of Health: P01CA87969, P01CA055075, P01DK070756, U01HG004728, UM1CA186107, U01CA176726, UM1CA176726, U01 CA167552, R01CA49449, R01CA50385, R01CA67262, R01CA131332, R01HL034594, R01HL088521, R01HL35464, R01HL116854, R01EY015473, R01EY022305, P30EY014104, R03DC013373 and R03CA165131. MrOS : The Osteoporotic Fractures in Men (MrOS) Study is supported by National Institutes of Health funding. The following institutes provide support: the National Institute on Aging (NIA), the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), the National Center for Advancing Translational Sciences (NCATS), and NIH Roadmap for Medical Research under the following grant numbers: U01 AG027810, U01 AG042124, U01 AG042139, U01 AG042140, U01 AG042143, U01 AG042145, U01 AG042168, U01 AR066160, R01 AG066671, and UL1 TR002369. The National Heart, Lung, and Blood Institute (NHLBI) provides funding for the MrOS Sleep ancillary study “Outcomes of Sleep Disorders in Older Men” under the following grant numbers: R01 HL071194, R01 HL070848, R01 HL070847, R01 HL070842, R01 HL070841, R01 HL070837, R01 HL070838, and R01 HL070839. MEC : This research was supported by the Public Health Service (National Cancer Institute) grant RO1 CA 5428 and U01 CA164973.
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M.Z. and R.S. wrote the main manuscript text; M.Z performed NHS data analyses and meta analysis; Z.Z. analysed MEC data; G-T.C. and Y-C.C. analysed TBB data; D.S.E analysed MrOS data; J.V. performed MGBB pheWAS and UKB analyses; M.W. shared UKB pheWAS pipeline; K.L.S.,G.J.T. : conceptualization, supervision (MrOS); A.H.E.,J.E.H , C.T.: conceptualization, supervision (NHS); L.M.,I.C.,C.H.,L.W.; L.L.M,:conceptualization, supervision (MEC); Y-C.C: conceptualization, supervision (TBB); M.M., J.H.: conceptualization, technical support in data analysis, supervision (general); E.S.S., R.S., J.L., R.R.: conceptualization, supervision (general); All authors read and reviewed the manuscript.
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Żebrowska, M., Zhang, Z., Chuang, GT. et al. Multi ancestry genome wide association meta analysis of urinary aMT6s levels. Sci Rep (2026). https://doi.org/10.1038/s41598-026-49491-2
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DOI: https://doi.org/10.1038/s41598-026-49491-2


