SynthesisNature communications2024
X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements.
Open access · goldAbstract readMeta-Analysis
In one paragraph
Synthesis in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
6.6field-weighted citation impact, top 3% of its field
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
7 citing papers in PubMed, 12 citations in OpenAlex.
- Autosomal Type IV Collagen Genes Display Sex Differences in Genetic Risk for Hematuria.Kidney international reports · 2026Article
- Identification of end-stage renal disease-associated loci in X chromosome: an X chromosome-wide association study.MedScience · 2026Article
- Rare coding and noncoding variants map 1,342 diseases and biomarkers in 490,549 whole genomes.medRxiv : the preprint server for health sciences · 2026Article
- Mendelian randomization study revealed a gut microbiota-immune system-kidney junction axis in chronic kidney disease.Scientific reports · 2025Article
- Role of X chromosome and dosage-compensation mechanisms in complex trait genetics.American journal of human genetics · 2025Article
- Multiple origins and phenotypic implications of an extended human pseudoautosomal region shown by analysis of the UK Biobank.American journal of human genetics · 2025Article
- Association betweenTranslational neuroscience · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
159 authors at 20 institutions in 19 countries.
Markus Scholz *Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany. markus.scholz@imise.uni-leipzig.de.ORCID 0000-0002-4059-1779
Katrin Horn *Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.ORCID 0000-0002-5307-6936
Janne PottInstitute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.ORCID 0000-0002-5983-5331
Matthias WuttkeInstitute of Genetic Epidemiology, Department of Data Driven Medicine, Faculty of Medicine and Medical Center-University of Freiburg, Freiburg, Germany.ORCID 0000-0003-3420-5082
Andreas KühnapfelInstitute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.ORCID 0000-0003-3668-0784
M Kamal NasrInstitute for Community Medicine, University Medicine Greifswald, Greifswald, Germany.ORCID 0009-0004-2816-7168
Holger KirstenInstitute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
Yong LiInstitute of Genetic Epidemiology, Department of Data Driven Medicine, Faculty of Medicine and Medical Center-University of Freiburg, Freiburg, Germany.ORCID 0000-0003-2651-8791
Anselm HoppmannInstitute of Genetic Epidemiology, Department of Data Driven Medicine, Faculty of Medicine and Medical Center-University of Freiburg, Freiburg, Germany.
Mathias GorskiDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.ORCID 0000-0002-9103-5860
Sahar GhasemiInstitute for Community Medicine, University Medicine Greifswald, Greifswald, Germany.
Man LiDivision of Nephrology and Hypertension, Department of Medicine, University of Utah, Salt Lake City, UT, USA.
Adrienne TinMemory Impairment and Neurodegenerative Dementia (MIND) Center, University of Mississippi Medical Center, Jackson, MS, USA.ORCID 0000-0002-4207-5866
Jin-Fang ChaiSaw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.
Massimiliano CoccaInstitute for Maternal and Child Health, IRCCS 'Burlo Garofolo', Trieste, Italy.ORCID 0000-0002-1127-7596
Judy WangDivision of Statistical Genomics, Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.
Teresa NutileInstitute of Genetics and Biophysics 'Adriano Buzzati-Traverso'-CNR, Naples, Italy.ORCID 0000-0001-7062-8352
Masato AkiyamaLaboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences (IMS), Yokohama, Japan.ORCID 0000-0002-1879-5476
Bjørn Olav ÅsvoldK. G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health, Norwegian University of Science and Technology, Trondheim, Norway.ORCID 0000-0003-3837-2101
Nisha BansalDivision of Nephrology, University of Washington, Seattle, WA, USA.
Mary L BiggsCardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, WA, USA.
Thibaud BoutinMedical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.
Hermann BrennerDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.ORCID 0000-0002-6129-1572
Ben BrumptonK. G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health, Norwegian University of Science and Technology, Trondheim, Norway.ORCID 0000-0002-3058-1059
Ralph BurkhardtLIFE Research Center for Civilization Diseases, University of Leipzig, Leipzig, Germany.ORCID 0000-0003-1924-1202
Jianwen CaiDepartment of Biostatistics, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID 0000-0002-4945-6733
Archie CampbellCentre for Genomic and Experimental Medicine, Institute of Genetics & Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.ORCID 0000-0003-0198-5078
Harry CampbellCentre for Global Health, Usher Institute, University of Edinburgh, Teviot Place, Edinburgh, EH8 9AG, Scotland.
John ChalmersThe George Institute for Global Health, University of New South Wales, Sydney, NSW, Australia.
Daniel I ChasmanDivision of Preventive Medicine, Brigham and Women's Hospital, Boston, MA, USA.ORCID 0000-0003-3357-0862
Miao Ling CheeSingapore Eye Research Institute, Singapore National Eye Center, Singapore, Singapore.
Miao Li CheeSingapore Eye Research Institute, Singapore National Eye Center, Singapore, Singapore.
Xu ChenDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Solna, Sweden.
Ching-Yu ChengSingapore Eye Research Institute, Singapore National Eye Center, Singapore, Singapore.ORCID 0000-0003-0655-885X
Renata CifkovaCenter for Cardiovascular Prevention, Charles University in Prague, First Faculty of Medicine and Thomayer University Hospital, Prague, Czech Republic.
Martha DaviglusInstitute for Minority Health Research, University of Illinois at Chicago, Chicago, IL, USA.
Graciela DelgadoVth Department of Medicine (Nephrology, Hypertensiology, Rheumatology, Endocrinology, Diabetology), Medical Faculty Mannheim, University of Heidelberg, Heidelberg, Germany.
Katalin DittrichUniversity Hospital for Children and Adolescents, Pediatric Research Unit, Medical Faculty, University Medical Center, University of Leipzig, Leipzig, Germany.
Todd L EdwardsDepartment of Veteran's Affairs, Tennessee Valley Healthcare System (626)/Vanderbilt University, Nashville, TN, USA.ORCID 0000-0003-4318-6119
Karlhans EndlichDZHK (German Center for Cardiovascular Research), partner site Greifswald, Greifswald, Germany.ORCID 0000-0001-6052-6061
J Michael GazianoMassachusetts Veterans Epidemiology Research and Information Center, VA Cooperative Studies Program, VA Boston Healthcare System, Boston, MA, USA.
Ayush GiriDivision of Quantitative Sciences, Department of Obstetrics & Gynecology, Vanderbilt Genetics Institute, Vanderbilt Epidemiology Center, Institute for Medicine and Public Health, Vanderbilt University Medical Center, Nashville, TN, USA.ORCID 0000-0002-7786-4670
Franco GiulianiniDivision of Preventive Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Scott D GordonQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0001-7623-328X
Daniel F GudbjartssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Stein HallanDepartment of Clinical and Molecular Medicine, NTNU, Norwegian University of Science and Technology, Trondheim, Norway.
Pavel HametMontreal University Hospital Research Center, CHUM, Montréal, QC, Canada.ORCID 0000-0001-5716-889X
Catharina A HartmanInterdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Department of Psychiatry, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.ORCID 0000-0002-8094-8859
Caroline HaywardMedical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.ORCID 0000-0002-9405-9550
Iris M HeidDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.
Jacklyn N HellwegeDepartment of Veteran's Affairs, Tennessee Valley Healthcare System (626)/Vanderbilt University, Nashville, TN, USA.ORCID 0000-0001-7479-0920
Bernd HolleczekDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Hilma HolmdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID 0000-0002-9517-6636
Nina Hutri-KähönenTampere Centre for Skills Training and Simulation, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.
Kristian HveemK. G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health, Norwegian University of Science and Technology, Trondheim, Norway.
Berend IsermannLIFE Research Center for Civilization Diseases, University of Leipzig, Leipzig, Germany.ORCID 0000-0003-0714-6160
Jost B JonasDepartment of Ophthalmology, Medical Faculty Mannheim, University Heidelberg, Mannheim, Germany.ORCID 0000-0003-2972-5227
Peter K JoshiCentre for Global Health, Usher Institute, University of Edinburgh, Teviot Place, Edinburgh, EH8 9AG, Scotland.
Yoichiro KamataniLaboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences (IMS), Yokohama, Japan.ORCID 0000-0001-8748-5597
Masahiro KanaiLaboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences (IMS), Yokohama, Japan.ORCID 0000-0001-5165-4408
Mika KastarinenFinnish Medicines Agency, Kuopio, Finland.
Chiea Chuen KhorGenome Institute of Singapore, Agency for Science Technology and Research, Singapore, Singapore.ORCID 0000-0002-1128-4729
Wieland KiessLIFE Research Center for Civilization Diseases, University of Leipzig, Leipzig, Germany.
Marcus E KleberVth Department of Medicine (Nephrology, Hypertensiology, Rheumatology, Endocrinology, Diabetology), Medical Faculty Mannheim, University of Heidelberg, Heidelberg, Germany.ORCID 0000-0003-0663-7275
Antje KörnerLIFE Research Center for Civilization Diseases, University of Leipzig, Leipzig, Germany.ORCID 0000-0001-6001-0356
Peter KovacsDepartment of Medicine, University of Leipzig, Leipzig, Germany.ORCID 0000-0002-0290-5423
Alena KrajcoviechovaCenter for Cardiovascular Prevention, Charles University in Prague, First Faculty of Medicine and Thomayer University Hospital, Prague, Czech Republic.
Holly KramerDepartment of Public Health Sciences, Loyola University Chicago, Maywood, IL, USA.ORCID 0000-0002-6374-837X
Bernhard K KrämerVth Department of Medicine (Nephrology, Hypertensiology, Rheumatology, Endocrinology, Diabetology), Medical Faculty Mannheim, University of Heidelberg, Heidelberg, Germany.ORCID 0000-0002-1718-2918
Mikko KuokkanenFinnish Institute for Health and Welfare, Helsinki, Finland.ORCID 0000-0003-4375-9327
Mika KähönenDepartment of Clinical Physiology, Tampere University Hospital, Tampere, Finland.
Leslie A LangeDivision of Biomedical Informatics and Personalized Medicine, School of Medicine, University of Colorado Denver-Anschutz Medical Campus, Aurora, CO, USA.
James P LashDepartment of Medicine, University of Illinois at Chicago, Chicago, IL, USA.ORCID 0000-0002-6580-4080
Terho LehtimäkiDepartment of Clinical Chemistry, Fimlab Laboratories, and The Wellbeing Services County of Pirkanmaa, Tampere, Finland.ORCID 0000-0002-2555-4427
Hengtong LiDepartment of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore.
Bridget M LinDepartment of Biostatistics, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Jianjun LiuGenome Institute of Singapore, Agency for Science Technology and Research, Singapore, Singapore.ORCID 0000-0002-3255-3019
Markus LoefflerInstitute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
Leo-Pekka LyytikäinenDepartment of Clinical Chemistry, Fimlab Laboratories, and The Wellbeing Services County of Pirkanmaa, Tampere, Finland.ORCID 0000-0002-7200-5455
Patrik K E MagnussonDepartment of Medical Epidemiology and Biostatistics, Karolinska Institutet, Solna, Sweden.ORCID 0000-0002-7315-7899
Nicholas G MartinQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0003-4069-8020
Koichi MatsudaLaboratory of Clinical Genome Sequencing, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan.
Yuri MilaneschiDepartment of Psychiatry, Amsterdam Public Health and Amsterdam Neuroscience, Amsterdam UMC/Vrije Universiteit and GGZ inGeest, Amsterdam, the Netherlands.ORCID 0000-0002-3697-6617
Pashupati P MishraDepartment of Clinical Chemistry, Fimlab Laboratories, and The Wellbeing Services County of Pirkanmaa, Tampere, Finland.
Nina MononenDepartment of Clinical Chemistry, Fimlab Laboratories, and The Wellbeing Services County of Pirkanmaa, Tampere, Finland.
Grant W MontgomeryUniversity of Queensland, Brisbane, QLD, Australia.ORCID 0000-0002-4140-8139
Dennis O Mook-KanamoriDepartment of Clinical Epidemiology, Leiden University Medical Center, Leiden, the Netherlands.
Josyf C MychaleckyjCenter for Public Health Genomics, University of Virginia, Charlottesville, Charlottesville, VA, USA.ORCID 0000-0003-2595-0005
Winfried MärzVth Department of Medicine (Nephrology, Hypertensiology, Rheumatology, Endocrinology, Diabetology), Medical Faculty Mannheim, University of Heidelberg, Heidelberg, Germany.
Matthias NauckDZHK (German Center for Cardiovascular Research), partner site Greifswald, Greifswald, Germany.ORCID 0000-0002-6678-7964
Kjell NikusDepartment of Cardiology, Heart Center, Tampere University Hospital, Tampere, Finland.
Ilja M NolteDepartment of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.ORCID 0000-0001-5047-4077
Raymond NoordamDepartment of Internal Medicine, Section of Gerontology and Geriatrics, Leiden University Medical Center, Leiden, the Netherlands.ORCID 0000-0001-7801-809X
Yukinori OkadaLaboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences (IMS), Yokohama, Japan.ORCID 0000-0002-0311-8472
Isleifur OlafssonDepartment of Clinical Biochemistry, Landspitali University Hospital, Reykjavik, Iceland.
Albertine J OldehinkelInterdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Department of Psychiatry, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.ORCID 0000-0003-3925-3913
Brenda W J H PenninxDepartment of Psychiatry, Amsterdam Public Health and Amsterdam Neuroscience, Amsterdam UMC/Vrije Universiteit and GGZ inGeest, Amsterdam, the Netherlands.
Markus PerolaFinnish Institute for Health and Welfare, Helsinki, Finland.
Nicola PirastuCentre for Global Health, Usher Institute, University of Edinburgh, Teviot Place, Edinburgh, EH8 9AG, Scotland.ORCID 0000-0002-5363-3886
Ozren PolasekUniversity of Split Medical School, Split, Croatia.ORCID 0000-0002-5765-1862
David J PorteousCentre for Genomic and Experimental Medicine, Institute of Genetics & Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.ORCID 0000-0003-1249-6106
Tanja PoulainLIFE Research Center for Civilization Diseases, University of Leipzig, Leipzig, Germany.
Bruce M PsatyCardiovascular Health Research Unit, Department of Medicine, Department of Epidemiology, Department of Health Systems and Population Health, University of Washington, Seattle, WA, USA.
Ton J RabelinkDepartment of Internal Medicine, Section of Nephrology, Leiden University Medical Center, Leiden, the Netherlands.ORCID 0000-0001-6780-5186
Laura M RaffieldDepartment of Genetics, University of North Carolina, Chapel Hill, NC, USA.ORCID 0000-0002-7892-193X
Olli T RaitakariCentre for Population Health Research, University of Turku and Turku University Hospital, Turku, Finland.
Humaira RasheedK. G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health, Norwegian University of Science and Technology, Trondheim, Norway.ORCID 0000-0002-3331-5864
Dermot F ReillyJanssen Pharmaceuticals Inc., Titusville, NJ, 08560, USA.ORCID 0000-0002-9456-1364
Kenneth M RiceDepartment of Biostatistics, University of Washington, Seattle, WA, USA.ORCID 0000-0002-3071-7278
Anne RichmondMedical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.
Paul M RidkerDivision of Preventive Medicine, Brigham and Women's Hospital, Boston, MA, USA.
Jerome I RotterThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.ORCID 0000-0001-7191-1723
Igor RudanCentre for Global Health, Usher Institute, University of Edinburgh, Teviot Place, Edinburgh, EH8 9AG, Scotland.ORCID 0000-0001-6993-6884
Charumathi SabanayagamSingapore Eye Research Institute, Singapore National Eye Center, Singapore, Singapore.
Veikko SalomaaFinnish Institute for Health and Welfare, Helsinki, Finland.ORCID 0000-0001-7563-5324
Neil SchneidermanDepartment of Psychology, University of Miami, Coral Gables, FL, USA.
Ben SchöttkerDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.ORCID 0000-0002-1217-4521
Mario SimsDepartment of Social Medicine, Population and Public Health, University of California at Riverside School of Medicine, Riverside, CA, USA.
Harold SniederDepartment of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.ORCID 0000-0003-1949-2298
Klaus J StarkDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.ORCID 0000-0002-7832-1942
Kari StefanssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID 0000-0003-1676-864X
Hannah StockerDivision of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.ORCID 0000-0001-5281-2455
Michael StumvollDepartment of Medicine, University of Leipzig, Leipzig, Germany.ORCID 0000-0001-6225-8240
Patrick SulemdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.ORCID 0000-0001-7123-6123
Gardar SveinbjornssondeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Per O SvenssonDepartment of Clinical Science and Education, Södersjukhuset, Karolinska Institutet, Stockholm, Sweden.ORCID 0000-0003-0372-6272
E-Shyong TaiSaw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.ORCID 0000-0003-2929-8966
Kent D TaylorThe Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA, USA.ORCID 0000-0002-2756-4370
Bamidele O TayoDepartment of Public Health Sciences, Loyola University Chicago, Maywood, IL, USA.
Andrej TerenLIFE Research Center for Civilization Diseases, University of Leipzig, Leipzig, Germany.
Yih-Chung ThamSingapore Eye Research Institute, Singapore National Eye Center, Singapore, Singapore.
Joachim ThieryLIFE Research Center for Civilization Diseases, University of Leipzig, Leipzig, Germany.
Chris H L ThioDepartment of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.ORCID 0000-0003-2623-7172
Laurent F ThomasK. G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, Faculty of Medicine and Health, Norwegian University of Science and Technology, Trondheim, Norway.ORCID 0000-0003-0548-2486
Johanne TremblayMontreal University Hospital Research Center, CHUM, Montréal, QC, Canada.
Anke TönjesDepartment of Medicine, University of Leipzig, Leipzig, Germany.
Peter J van der MostDepartment of Epidemiology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.ORCID 0000-0001-8450-3518
Veronique VitartMedical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.
Uwe VölkerDZHK (German Center for Cardiovascular Research), partner site Greifswald, Greifswald, Germany.ORCID 0000-0002-5689-3448
Ya Xing WangBeijing Institute of Ophthalmology, Key Laboratory of Ophthalmology and Visual Sciences, Beijing Tongren Hospital, Capital Medical University, Beijing, China.ORCID 0000-0003-2749-7793
Chaolong WangGenome Institute of Singapore, Agency for Science Technology and Research, Singapore, Singapore.ORCID 0000-0003-3945-1012
Wen Bin WeiBeijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
John B WhitfieldQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0002-1103-0876
Sarah H WildUsher Institute, University of Edinburgh, Teviot Place, Edinburgh, EH8 9AG, Scotland.ORCID 0000-0001-7824-2569
James F WilsonMedical Research Council Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, EH4 2XU, UK.ORCID 0000-0001-5751-9178
Thomas W WinklerDepartment of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.ORCID 0000-0003-0292-5421
Tien-Yin WongSingapore Eye Research Institute, Singapore National Eye Center, Singapore, Singapore.ORCID 0000-0002-8448-1264
Mark WoodwardThe George Institute for Global Health, University of New South Wales, Sydney, NSW, Australia.
Xueling SimSaw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.ORCID 0000-0002-1233-7642
Audrey Y ChuGenetics, Merck & Co., Inc, Kenilworth, NJ, USA.
Mary F FeitosaDivision of Statistical Genomics, Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.ORCID 0000-0002-0933-2410
Unnur ThorsteinsdottirdeCODE Genetics/Amgen, Inc., Reykjavik, Iceland.
Adriana M HungDepartment of Veteran's Affairs, Tennessee Valley Healthcare System (626)/Vanderbilt University, Nashville, TN, USA.ORCID 0000-0002-3203-1608
Alexander TeumerInstitute for Community Medicine, University Medicine Greifswald, Greifswald, Germany.ORCID 0000-0002-8309-094X
Nora FranceschiniDepartment of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.ORCID 0009-0001-8346-3662
Afshin ParsaDivision of Kidney, Urologic and Hematologic Diseases, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA.
Anna KöttgenInstitute of Genetic Epidemiology, Department of Data Driven Medicine, Faculty of Medicine and Medical Center-University of Freiburg, Freiburg, Germany.ORCID 0000-0002-4671-3714
Pascal SchlosserInstitute of Genetic Epidemiology, Department of Data Driven Medicine, Faculty of Medicine and Medical Center-University of Freiburg, Freiburg, Germany.ORCID 0000-0002-8460-0462
Cristian PattaroEurac Research, Institute for Biomedicine (affiliated with the University of Lübeck), Bolzano, Italy.ORCID 0000-0002-4119-0109
Leipzig University · DETampere University · FIdeCODE Genetics (Iceland) · ISNational University of Singapore · SGUniversity Medical Center Groningen · NLNorwegian University of Science and Technology · NOUniversitätsmedizin Greifswald · DECentre for Global Health Research · CAGerman Cancer Research Center · DEInstitute of Genetics and Cancer · GBSingapore National Eye Center · SGUniversity of North Carolina at Chapel Hill · USUniversity of Washington · USVanderbilt University · USAgency for Science, Technology and Research · SGBeijing Tongren Hospital · CNBrigham and Women's Hospital · USHeidelberg University · DEKarolinska Institutet · SELeiden University Medical Center · NL
Funding
CHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5MLeveraging ancestry to map kidney lociR01MD012765 · NIMHD · UNIV OF NORTH CAROLINA CHAPEL HILL · PI FRANCESCHINI, NORA · 2017 to 2021
$3.6MGenetics of kidney disease in diverse populationsR01DK117445 · NIDDK · UNIV OF NORTH CAROLINA CHAPEL HILL · PI FRANCESCHINI, NORA · 2018 to 2022
$2.7MMedical Research Council MC_UU_00007/10NHLBI NIH HHS R01 HL105756NIDDK NIH HHS R01 DK117445NIMHD NIH HHS R01 MD012765
Abstract
X-chromosomal genetic variants are understudied but can yield valuable insights into sexually dimorphic human traits and diseases. We performed a sex-stratified cross-ancestry X-chromosome-wide association meta-analysis of seven kidney-related traits (n = 908,697), identifying 23 loci genome-wide significantly associated with two of the traits: 7 for uric acid and 16 for estimated glomerular filtration rate (eGFR), including four novel eGFR loci containing the functionally plausible prioritized genes ACSL4, CLDN2, TSPAN6 and the female-specific DRP2. Further, we identified five novel sex-interactions, comprising male-specific effects at FAM9B and AR/EDA2R, and three sex-differential findings with larger genetic effect sizes in males at DCAF12L1 and MST4 and larger effect sizes in females at HPRT1. All prioritized genes in loci showing significant sex-interactions were located next to androgen response elements (ARE). Five ARE genes showed sex-differential expressions. This study contributes new insights into sex-dimorphisms of kidney traits along with new prioritized gene targets for further molecular research.
Indexed as
AndrogensGenome-Wide Association StudyChromosomes, Human, XFemaleGenetic Predisposition to DiseaseHumansKidneyMalePolymorphism, Single NucleotideResponse ElementsTetraspaninsAndrogensTetraspaninsTSPAN6 protein, human
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