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"Arno", "initials": "A"}, {"family": "Debette", "given": "St\u00e9phanie", "initials": "S"}, {"family": "Gudnason", "given": "Vilmundur", "initials": "V", "orcid": "0000-0001-5696-0084", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8c455ccc68df48a0a56ba9f3e1cd07f4.json"}}, {"family": "Medland", "given": "Sarah E", "initials": "SE", "orcid": "0000-0003-1382-380X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cd3ed5adf8e846c894e2a46d89edbec0.json"}}, {"family": "Shulman", "given": "Joshua M", "initials": "JM"}, {"family": "Thompson", "given": "Paul M", "initials": "PM"}, {"family": "Seshadri", "given": "Sudha", "initials": "S"}, {"family": "Ikram", "given": "M Arfan", "initials": "MA", "orcid": "0000-0003-0372-8585", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ef9df12e0e6743f5a97d73c58e75443b.json"}}], "type": "journal article", "published": "2019-11-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "51", "issue": "11", "pages": "1624-1636", "issn-l": "1061-4036"}, "abstract": "Subcortical brain structures are integral to motion, consciousness, emotions and learning. We identified common genetic variation related to the volumes of the nucleus accumbens, amygdala, brainstem, caudate nucleus, globus pallidus, putamen and thalamus, using genome-wide association analyses in almost 40,000 individuals from CHARGE, ENIGMA and UK Biobank. We show that variability in subcortical volumes is heritable, and identify 48 significantly associated loci (40 novel at the time of analysis). Annotation of these loci by utilizing gene expression, methylation and neuropathological data identified 199 genes putatively implicated in neurodevelopment, synaptic signaling, axonal transport, apoptosis, inflammation/infection and susceptibility to neurological disorders. This set of genes is significantly enriched for Drosophila orthologs associated with neurodevelopmental phenotypes, suggesting evolutionarily conserved mechanisms. Our findings uncover novel biology and potential drug targets underlying brain development and disease.", "doi": "10.1038/s41588-019-0511-y", "pmid": "31636452", "labels": [], "xrefs": [{"db": "mid", "key": "NIHMS1553652"}, {"db": "pmc", "key": "PMC7055269"}, {"db": "pii", "key": "10.1038/s41588-019-0511-y"}], "notes": [], "created": "2026-09-23T06:38:32.789Z", "modified": "2026-09-23T06:38:34.177Z"}, {"entity": "publication", "iuid": "e4eb153af8ec41768e069b8bbd9dba63", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/e4eb153af8ec41768e069b8bbd9dba63.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/e4eb153af8ec41768e069b8bbd9dba63"}}, "title": "Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.", "authors": [{"family": "Teumer", "given": "Alexander", "initials": "A", "orcid": "0000-0002-8309-094X", "researcher": {"href": 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"Adam S", "initials": "AS", "orcid": "0000-0002-6915-9015", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/88842023860148bb8d155b5c18db72a8.json"}}, {"family": "Hung", "given": "Adriana M", "initials": "AM", "orcid": "0000-0002-3203-1608", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8c9c6d7e42fd4f1bb64e93c1660a6010.json"}}, {"family": "Pattaro", "given": "Cristian", "initials": "C", "orcid": "0000-0002-4119-0109", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d8c7ff447060429da7904b26ea8b1d4b.json"}}, {"family": "K\u00f6ttgen", "given": "Anna", "initials": "A", "orcid": "0000-0002-4671-3714", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ed83f5aa153f40169b9975b5c4360653.json"}}], "type": "journal article", "published": "2019-09-11", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "10", "issue": "1", "pages": "4130", "issn-l": "2041-1723"}, "abstract": "Increased levels of the urinary albumin-to-creatinine ratio (UACR) are associated with higher risk of kidney disease progression and cardiovascular events, but underlying mechanisms are incompletely understood. Here, we conduct trans-ethnic (n = 564,257) and European-ancestry specific meta-analyses of genome-wide association studies of UACR, including ancestry- and diabetes-specific analyses, and identify 68 UACR-associated loci. Genetic correlation analyses and risk score associations in an independent electronic medical records database (n = 192,868) reveal connections with proteinuria, hyperlipidemia, gout, and hypertension. Fine-mapping and trans-Omics analyses with gene expression in 47 tissues and plasma protein levels implicate genes potentially operating through differential expression in kidney (including TGFB1, MUC1, PRKCI, and OAF), and allow coupling of UACR associations to altered plasma OAF concentrations. Knockdown of OAF and PRKCI orthologs in Drosophila nephrocytes reduces albumin endocytosis. Silencing fly PRKCI further impairs slit diaphragm formation. These results generate a priority list of genes and pathways for translational research to reduce albuminuria.", "doi": "10.1038/s41467-019-11576-0", "pmid": "31511532", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC6739370"}, {"db": "pii", "key": "10.1038/s41467-019-11576-0"}], "notes": [], "created": "2026-09-23T06:41:43.870Z", "modified": "2026-09-23T06:41:44.587Z"}, {"entity": "publication", "iuid": "e3153b7609ad4515bbdda959618c46ed", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/e3153b7609ad4515bbdda959618c46ed.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/e3153b7609ad4515bbdda959618c46ed"}}, "title": "A catalog of genetic loci associated with kidney function from analyses of a million individuals.", "authors": [{"family": "Wuttke", "given": "Matthias", "initials": "M", "orcid": "0000-0003-3420-5082", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6f2f154153f941cb98907f8d3e454281.json"}}, {"family": "Li", "given": "Yong", "initials": "Y", "orcid": "0000-0003-2651-8791", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fe899ba2a29e4ec3ad81ef8027f8326e.json"}}, {"family": "Li", "given": "Man", "initials": "M", "orcid": "0000-0002-3839-0281", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5436bf44eb30448d8ff5b2d9216500f5.json"}}, {"family": "Sieber", "given": "Karsten B", "initials": "KB"}, {"family": "Feitosa", "given": "Mary F", "initials": "MF", "orcid": "0000-0002-0933-2410", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7c6683f293db41d0a275a94b6a9e0af4.json"}}, {"family": "Gorski", "given": "Mathias", "initials": "M"}, {"family": "Tin", "given": "Adrienne", "initials": "A", "orcid": "0000-0002-4207-5866", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d0c7ca063aad427da7db8a96ea1937da.json"}}, {"family": "Wang", "given": "Lihua", "initials": "L"}, {"family": "Chu", "given": "Audrey Y", "initials": "AY"}, {"family": "Hoppmann", "given": "Anselm", "initials": "A"}, {"family": "Kirsten", "given": "Holger", "initials": "H", "orcid": "0000-0002-3126-7950", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/31231fe89b45443496f0f08e7ab94fcc.json"}}, {"family": "Giri", "given": "Ayush", "initials": "A", "orcid": "0000-0002-7786-4670", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/424e945c81e14434a13205bdd2e986ac.json"}}, {"family": "Chai", "given": "Jin-Fang", "initials": "JF"}, {"family": "Sveinbjornsson", "given": "Gardar", "initials": "G"}, {"family": "Tayo", "given": "Bamidele O", "initials": "BO"}, {"family": "Nutile", "given": "Teresa", "initials": "T"}, {"family": "Fuchsberger", "given": "Christian", "initials": "C"}, {"family": "Marten", "given": "Jonathan", "initials": "J", "orcid": "0000-0001-6916-2014", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5e99ac6161834a3dac9641e3443ecdd6.json"}}, {"family": "Cocca", "given": "Massimiliano", "initials": "M", "orcid": "0000-0002-1127-7596", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5d19d2cc833046b69aad74182469aa98.json"}}, {"family": "Ghasemi", "given": "Sahar", "initials": "S"}, {"family": "Xu", "given": "Yizhe", "initials": "Y"}, {"family": "Horn", "given": "Katrin", "initials": "K"}, {"family": "Noce", "given": "Damia", "initials": "D"}, {"family": "van der Most", "given": "Peter J", "initials": "PJ", "orcid": "0000-0001-8450-3518", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/aab1c835d9be4682b250164838d5b4ec.json"}}, {"family": "Sedaghat", "given": "Sanaz", "initials": "S"}, {"family": "Yu", "given": "Zhi", "initials": "Z"}, {"family": "Akiyama", "given": "Masato", "initials": "M"}, {"family": "Afaq", "given": "Saima", "initials": "S"}, {"family": "Ahluwalia", "given": "Tarunveer S", "initials": "TS"}, {"family": "Almgren", "given": "Peter", "initials": "P", "orcid": "0000-0002-0473-0241", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/38c129298565453d84f62b9138d0634e.json"}}, {"family": "Amin", "given": "Najaf", "initials": "N"}, {"family": "\u00c4rnl\u00f6v", "given": "Johan", "initials": "J"}, {"family": "Bakker", "given": "Stephan J L", "initials": "SJL"}, {"family": "Bansal", "given": "Nisha", "initials": "N"}, {"family": "Baptista", "given": "Daniela", "initials": "D"}, {"family": "Bergmann", "given": "Sven", "initials": "S", "orcid": "0000-0002-6785-9034", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e7202443121d40b8b4b78835e31b6e16.json"}}, {"family": "Biggs", "given": "Mary L", "initials": "ML"}, {"family": "Biino", "given": "Ginevra", "initials": "G", "orcid": "0000-0002-9936-946X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fd7f7623d67e44a8a7b2a7a701d9ab67.json"}}, {"family": "Boehnke", "given": "Michael", "initials": "M", "orcid": "0000-0002-6442-7754", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e36dfed05bd94a1588f0ad628a9e39c5.json"}}, {"family": "Boerwinkle", "given": "Eric", "initials": "E"}, {"family": "Boissel", "given": "Mathilde", "initials": "M", "orcid": "0000-0001-5719-8749", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d7e3c665c13442e489bfac88082ee6b9.json"}}, {"family": "Bottinger", "given": "Erwin P", "initials": "EP"}, {"family": "Boutin", "given": "Thibaud S", "initials": "TS", "orcid": "0000-0003-4754-1675", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e1bd612393744c13993ed8cfac3f4710.json"}}, {"family": "Brenner", "given": "Hermann", "initials": "H"}, {"family": "Brumat", "given": "Marco", "initials": "M"}, {"family": "Burkhardt", "given": "Ralph", "initials": "R", "orcid": "0000-0003-1924-1202", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a585b2b608074d5e8011d3da9f061294.json"}}, {"family": "Butterworth", "given": "Adam S", "initials": "AS", "orcid": "0000-0002-6915-9015", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/88842023860148bb8d155b5c18db72a8.json"}}, {"family": "Campana", "given": "Eric", "initials": "E"}, {"family": "Campbell", "given": "Archie", "initials": "A", "orcid": "0000-0003-0198-5078", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0727bde0027c4a8a9d2737bb486f1bad.json"}}, {"family": "Campbell", "given": "Harry", "initials": "H"}, {"family": "Canouil", "given": "Micka\u00ebl", "initials": "M", "orcid": "0000-0002-3396-4549", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b9723d3bb47949d0a498ebd7dabe9f16.json"}}, {"family": "Carroll", "given": "Robert J", "initials": "RJ"}, {"family": "Catamo", "given": "Eulalia", "initials": "E"}, {"family": "Chambers", "given": "John C", "initials": "JC"}, {"family": "Chee", "given": "Miao-Ling", "initials": "ML"}, {"family": "Chee", "given": "Miao-Li", "initials": "ML"}, {"family": "Chen", "given": "Xu", "initials": "X", "orcid": "0000-0002-7299-3238", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a4e440b72e0f47079dadf74bfd661448.json"}}, {"family": "Cheng", "given": "Ching-Yu", "initials": "CY"}, {"family": "Cheng", "given": "Yurong", "initials": "Y"}, {"family": "Christensen", "given": "Kaare", "initials": "K", "orcid": "0000-0002-5429-5292", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e6d6f32bfc8d43f791f774fa79619abf.json"}}, {"family": "Cifkova", "given": "Renata", "initials": "R"}, {"family": "Ciullo", "given": "Marina", "initials": "M"}, {"family": "Concas", "given": "Maria Pina", "initials": "MP", "orcid": "0000-0003-3598-2537", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d8c79d01fcc34ff7a13aa5162d8d465c.json"}}, {"family": "Cook", "given": "James P", "initials": "JP"}, {"family": "Coresh", "given": "Josef", "initials": "J", "orcid": "0000-0002-4598-0669", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e26609ab79774b89a8d85a1a3634dac5.json"}}, {"family": "Corre", "given": "Tanguy", "initials": "T"}, {"family": "Sala", "given": "Cinzia Felicita", "initials": "CF"}, {"family": "Cusi", "given": "Daniele", "initials": "D"}, {"family": "Danesh", "given": "John", "initials": "J"}, {"family": "Daw", "given": "E Warwick", "initials": "EW"}, {"family": "de Borst", "given": "Martin H", "initials": "MH", "orcid": "0000-0002-4127-8733", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5261982a3d1b40f38a8fef1e6f112e4c.json"}}, {"family": "De Grandi", "given": "Alessandro", "initials": "A"}, {"family": "de Mutsert", "given": "Ren\u00e9e", "initials": "R"}, {"family": "de Vries", "given": "Aiko P J", "initials": "APJ"}, {"family": "Degenhardt", "given": "Frauke", "initials": "F"}, {"family": "Delgado", "given": "Graciela", "initials": "G"}, {"family": "Demirkan", "given": "Ayse", "initials": "A"}, {"family": "Di Angelantonio", "given": "Emanuele", "initials": "E"}, {"family": "Dittrich", "given": "Katalin", "initials": "K"}, {"family": "Divers", "given": "Jasmin", "initials": "J"}, {"family": "Dorajoo", "given": "Rajkumar", "initials": "R", "orcid": "0000-0001-6608-2051", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2274574c011f4509935dfc60954447ce.json"}}, {"family": "Eckardt", "given": "Kai-Uwe", "initials": "KU"}, {"family": "Ehret", "given": "Georg", "initials": "G", "orcid": "0000-0002-5730-0675", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1fe0233af4614b8b870be7bb90772368.json"}}, {"family": "Elliott", "given": "Paul", "initials": "P", "orcid": "0000-0002-7511-5684", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f380d322e67841e7b47ff3202991c1c4.json"}}, {"family": "Endlich", "given": "Karlhans", "initials": "K"}, {"family": "Evans", "given": "Michele K", "initials": "MK"}, {"family": "Felix", "given": "Janine F", "initials": "JF", "orcid": "0000-0002-9801-5774", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c51a2653326d4a14997c39b147ba1be1.json"}}, {"family": "Foo", "given": "Valencia Hui Xian", "initials": "VHX"}, {"family": "Franco", "given": "Oscar H", "initials": "OH"}, {"family": "Franke", "given": "Andre", "initials": "A", "orcid": "0000-0003-1530-5811", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d4f291a6379142299dd7a7acd6516045.json"}}, {"family": "Freedman", "given": "Barry I", "initials": "BI"}, {"family": "Freitag-Wolf", "given": "Sandra", "initials": "S", "orcid": "0000-0002-1069-7740", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cbc2aed6c2774206ad48da800b64e261.json"}}, {"family": "Friedlander", "given": "Yechiel", "initials": "Y"}, {"family": "Froguel", "given": "Philippe", "initials": "P", "orcid": "0000-0003-2972-0784", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cfa1447bfb9d4d04a5625d48f13fcd4e.json"}}, {"family": "Gansevoort", "given": "Ron T", "initials": "RT"}, {"family": "Gao", "given": "He", "initials": "H"}, {"family": "Gasparini", "given": "Paolo", "initials": "P"}, {"family": "Gaziano", "given": "J Michael", "initials": "JM"}, {"family": "Giedraitis", "given": "Vilmantas", "initials": "V", "orcid": "0000-0003-3423-2021", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/45fe36e9f3dc43abbc0c718a6babc9fe.json"}}, {"family": "Gieger", "given": "Christian", "initials": "C"}, {"family": "Girotto", "given": "Giorgia", "initials": "G", "orcid": "0000-0003-4507-6589", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/78f2cd3cf98d4be1ac3d4a5831f40e4e.json"}}, {"family": "Giulianini", "given": "Franco", "initials": "F"}, {"family": "G\u00f6gele", "given": "Martin", "initials": "M"}, {"family": "Gordon", "given": "Scott D", "initials": "SD", "orcid": "0000-0001-7623-328X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6212403733fe43048fa0f81dfc283cfb.json"}}, {"family": "Gudbjartsson", "given": "Daniel F", "initials": "DF", "orcid": "0000-0002-5222-9857", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/11758dde6b6e4d0cad421e39719b2821.json"}}, {"family": "Gudnason", "given": "Vilmundur", "initials": "V", "orcid": "0000-0001-5696-0084", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8c455ccc68df48a0a56ba9f3e1cd07f4.json"}}, {"family": "Haller", "given": "Toomas", "initials": "T"}, {"family": "Hamet", "given": "Pavel", "initials": "P"}, {"family": "Harris", "given": "Tamara B", "initials": "TB"}, {"family": "Hartman", "given": "Catharina A", "initials": "CA"}, {"family": "Hayward", "given": "Caroline", "initials": "C", "orcid": "0000-0002-9405-9550", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/542b00d650124ce4a3776ae95571e2c1.json"}}, {"family": "Hellwege", "given": "Jacklyn N", "initials": "JN", "orcid": "0000-0001-7479-0920", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b6a0fd444f964dc69f81988f20514862.json"}}, {"family": "Heng", "given": "Chew-Kiat", "initials": "CK", "orcid": "0000-0002-7309-9473", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3902546a97a14c268768ed26da7cc07a.json"}}, {"family": "Hicks", "given": "Andrew A", "initials": "AA", "orcid": "0000-0001-6320-0411", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/08bfcbd859e848698883ad840f02594f.json"}}, {"family": "Hofer", "given": "Edith", "initials": "E"}, {"family": "Huang", "given": "Wei", "initials": "W"}, {"family": "Hutri-K\u00e4h\u00f6nen", "given": "Nina", "initials": "N"}, {"family": "Hwang", "given": "Shih-Jen", "initials": "SJ"}, {"family": "Ikram", "given": "M Arfan", "initials": "MA", "orcid": "0000-0003-0372-8585", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ef9df12e0e6743f5a97d73c58e75443b.json"}}, {"family": "Indridason", "given": "Olafur S", "initials": "OS"}, {"family": "Ingelsson", "given": "Erik", "initials": "E"}, {"family": "Ising", "given": "Marcus", "initials": "M"}, {"family": "Jaddoe", "given": "Vincent W V", "initials": "VWV", "orcid": "0000-0003-2939-0041", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f8edc99da05d4f4998cb2f3410cc8c1b.json"}}, {"family": "Jakobsdottir", "given": "Johanna", "initials": "J"}, {"family": "Jonas", "given": "Jost B", "initials": "JB", "orcid": "0000-0003-2972-5227", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ba6ebdf3cbc94366aa25b055d7dc6843.json"}}, {"family": "Joshi", "given": "Peter K", "initials": "PK", "orcid": "0000-0002-6361-5059", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/67a2c02915a5435d8ff7e148eeab9cc8.json"}}, {"family": "Josyula", "given": "Navya Shilpa", "initials": "NS", "orcid": "0000-0003-2782-8812", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4bd28066471f491bbd3aea82e62639a5.json"}}, {"family": "Jung", "given": "Bettina", "initials": "B"}, {"family": "K\u00e4h\u00f6nen", "given": "Mika", 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"Anna", "initials": "A", "orcid": "0000-0002-4671-3714", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ed83f5aa153f40169b9975b5c4360653.json"}}, {"family": "Pattaro", "given": "Cristian", "initials": "C", "orcid": "0000-0002-4119-0109", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d8c7ff447060429da7904b26ea8b1d4b.json"}}], "type": "journal article", "published": "2019-06-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "51", "issue": "6", "pages": "957-972", "issn-l": "1061-4036"}, "abstract": "Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic complications. Through trans-ancestry meta-analysis of genome-wide association studies of estimated glomerular filtration rate (eGFR) and independent replication (n = 1,046,070), we identified 264 associated loci (166 new). Of these, 147 were likely to be relevant for kidney function on the basis of associations with the alternative kidney function marker blood urea nitrogen (n = 416,178). Pathway and enrichment analyses, including mouse models with renal phenotypes, support the kidney as the main target organ. A genetic risk score for lower eGFR was associated with clinically diagnosed CKD in 452,264 independent individuals. Colocalization analyses of associations with eGFR among 783,978 European-ancestry individuals and gene expression across 46 human tissues, including tubulo-interstitial and glomerular kidney compartments, identified 17 genes differentially expressed in kidney. Fine-mapping highlighted missense driver variants in 11 genes and kidney-specific regulatory variants. These results provide a comprehensive priority list of molecular targets for translational research.", "doi": "10.1038/s41588-019-0407-x", "pmid": "31152163", "labels": [], "xrefs": [{"db": "mid", "key": "NIHMS1038587"}, {"db": "pmc", "key": "PMC6698888"}, {"db": "pii", "key": "10.1038/s41588-019-0407-x"}], "notes": [], "created": "2026-09-22T19:59:34.302Z", "modified": "2026-09-22T19:59:35.870Z"}, {"entity": "publication", "iuid": "378d5ea7c556404ea6d187c258694086", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/378d5ea7c556404ea6d187c258694086.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/378d5ea7c556404ea6d187c258694086"}}, "title": "GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes.", "authors": [{"family": "Franceschini", "given": "Nora", "initials": "N"}, {"family": "Giambartolomei", "given": "Claudia", "initials": "C", "orcid": "0000-0003-2786-1225", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/83d69ed9decd4da38ab63700c06cf034.json"}}, {"family": "de Vries", "given": "Paul S", "initials": "PS"}, {"family": "Finan", "given": "Chris", "initials": "C"}, {"family": "Bis", "given": "Joshua C", "initials": "JC"}, {"family": "Huntley", "given": "Rachael P", "initials": "RP", "orcid": "0000-0001-6718-3559", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/16c235065c50461f81cedacd07869a95.json"}}, {"family": "Lovering", "given": "Ruth C", "initials": "RC", "orcid": "0000-0002-9791-0064", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ce3413f3584a4055b218b37ef7703c39.json"}}, {"family": "Tajuddin", "given": "Salman M", "initials": "SM", "orcid": "0000-0002-7919-8528", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/30ff30406cb346d8964f75644493b107.json"}}, {"family": "Winkler", "given": "Thomas W", "initials": "TW", "orcid": "0000-0003-0292-5421", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b1511736ab1f4f3cab1a2ccef342db34.json"}}, {"family": "Graff", "given": "Misa", "initials": "M"}, {"family": "Kavousi", "given": "Maryam", "initials": "M"}, {"family": "Dale", "given": "Caroline", "initials": "C"}, {"family": "Smith", "given": "Albert V", "initials": "AV"}, {"family": "Hofer", "given": "Edith", "initials": "E"}, {"family": "van Leeuwen", "given": "Elisabeth M", "initials": "EM"}, {"family": "Nolte", "given": "Ilja M", "initials": "IM", "orcid": "0000-0001-5047-4077", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2f5412b9a3a24cd9886c668836025c1b.json"}}, {"family": "Lu", "given": "Lingyi", "initials": "L"}, {"family": "Scholz", "given": "Markus", "initials": "M", "orcid": "0000-0002-4059-1779", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5283e0dd4ad745938042b3fb48fcb73d.json"}}, {"family": "Sargurupremraj", "given": "Muralidharan", "initials": "M"}, {"family": "Pitk\u00e4nen", "given": "Niina", "initials": "N"}, {"family": "Franz\u00e9n", "given": "Oscar", "initials": "O"}, {"family": "Joshi", "given": "Peter K", "initials": "PK", "orcid": "0000-0002-6361-5059", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/67a2c02915a5435d8ff7e148eeab9cc8.json"}}, {"family": "Noordam", "given": "Raymond", "initials": "R"}, {"family": "Marioni", "given": "Riccardo E", "initials": "RE"}, {"family": "Hwang", "given": "Shih-Jen", "initials": "SJ"}, {"family": "Musani", "given": "Solomon K", "initials": "SK"}, {"family": "Schminke", "given": "Ulf", "initials": "U"}, {"family": "Palmas", "given": "Walter", "initials": "W"}, {"family": "Isaacs", "given": "Aaron", "initials": "A", "orcid": "0000-0001-5037-4834", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3032ae0243754d59ae39612d49257dfd.json"}}, {"family": "Correa", "given": "Adolfo", "initials": "A", "orcid": "0000-0002-9501-600X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5148730ad2904845aafb1bf3c4d30211.json"}}, {"family": "Zonderman", "given": "Alan B", "initials": "AB"}, {"family": "Hofman", "given": "Albert", "initials": "A"}, {"family": "Teumer", "given": "Alexander", "initials": "A", "orcid": "0000-0002-8309-094X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1a40a959d1b8480cb8268e00f77a0449.json"}}, {"family": "Cox", "given": "Amanda J", "initials": "AJ"}, {"family": "Uitterlinden", "given": "Andr\u00e9 G", "initials": "AG"}, {"family": "Wong", "given": "Andrew", "initials": "A", "orcid": "0000-0003-2079-4779", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d5de10edb24240449c7784bfb4703189.json"}}, {"family": "Smit", "given": "Andries J", "initials": "AJ"}, {"family": "Newman", "given": "Anne B", "initials": "AB", "orcid": "0000-0002-0106-1150", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3f546c74842f4918b66f95f6c390a7d1.json"}}, {"family": "Britton", "given": "Annie", "initials": "A"}, {"family": "Ruusalepp", "given": "Arno", "initials": "A"}, {"family": "Sennblad", "given": "Bengt", "initials": "B", "orcid": "0000-0002-4360-8003", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5a39d035a6544946beab0e1bb097f000.json"}}, {"family": "Hedblad", "given": "Bo", "initials": "B"}, {"family": "Pasaniuc", "given": "Bogdan", "initials": "B"}, {"family": "Penninx", "given": "Brenda W", "initials": "BW"}, {"family": "Langefeld", "given": "Carl D", "initials": "CD"}, {"family": "Wassel", "given": "Christina L", "initials": "CL"}, {"family": "Tzourio", "given": "Christophe", "initials": "C"}, {"family": "Fava", "given": "Cristiano", "initials": "C"}, {"family": "Baldassarre", "given": "Damiano", "initials": "D", "orcid": "0000-0002-2766-8882", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f8b84ab3a8e94c5f9f9668e5550f6ace.json"}}, {"family": "O'Leary", "given": "Daniel H", "initials": "DH"}, {"family": "Teupser", "given": "Daniel", "initials": "D"}, {"family": "Kuh", "given": "Diana", "initials": "D", "orcid": "0000-0001-7386-2857", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e88245d0e26e4914a62321bf0b9ab040.json"}}, {"family": "Tremoli", "given": "Elena", "initials": "E"}, {"family": "Mannarino", "given": "Elmo", "initials": "E"}, {"family": "Grossi", "given": "Enzo", "initials": "E"}, {"family": "Boerwinkle", "given": "Eric", "initials": "E"}, {"family": "Schadt", "given": "Eric E", "initials": "EE", "orcid": "0000-0002-7892-8808", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/28ae669906dd4ab6ad0dd059176f4789.json"}}, {"family": "Ingelsson", "given": "Erik", "initials": "E"}, {"family": "Veglia", "given": "Fabrizio", "initials": "F"}, {"family": "Rivadeneira", "given": "Fernando", "initials": "F", "orcid": "0000-0001-9435-9441", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/052747cd28af4c308b064e88005985a2.json"}}, {"family": "Beutner", "given": "Frank", "initials": "F"}, {"family": "Chauhan", "given": "Ganesh", "initials": "G"}, {"family": "Heiss", "given": "Gerardo", "initials": "G"}, {"family": "Snieder", "given": "Harold", "initials": "H"}, {"family": "Campbell", "given": "Harry", "initials": "H"}, {"family": "V\u00f6lzke", "given": "Henry", "initials": "H"}, {"family": "Markus", "given": "Hugh S", "initials": "HS"}, {"family": "Deary", "given": "Ian J", "initials": "IJ"}, {"family": "Jukema", "given": "J Wouter", "initials": "JW", "orcid": "0000-0002-3246-8359", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/51be7e89ccfd4bbe93b216028c57a376.json"}}, {"family": "de Graaf", "given": "Jacqueline", "initials": "J"}, {"family": "Price", "given": "Jacqueline", "initials": "J"}, {"family": "Pott", "given": "Janne", "initials": "J"}, {"family": "Hopewell", "given": "Jemma C", "initials": "JC"}, {"family": "Liang", "given": "Jingjing", "initials": "J"}, {"family": "Thiery", "given": "Joachim", "initials": "J"}, {"family": "Engmann", "given": "Jorgen", "initials": "J"}, {"family": "Gertow", "given": "Karl", "initials": "K"}, {"family": "Rice", "given": "Kenneth", "initials": "K", "orcid": "0000-0002-3071-7278", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4abc50d96a32405c92f908a27c68c59b.json"}}, {"family": "Taylor", "given": "Kent D", "initials": "KD"}, {"family": "Dhana", "given": "Klodian", "initials": "K", "orcid": "0000-0002-6397-7009", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bd1f0904113e4a7ab7a9e31116f9bd3e.json"}}, {"family": "Kiemeney", "given": "Lambertus A L M", "initials": "LALM"}, {"family": "Lind", "given": "Lars", "initials": "L"}, {"family": "Raffield", "given": "Laura M", "initials": "LM"}, {"family": "Launer", "given": "Lenore J", "initials": "LJ"}, {"family": "Holdt", "given": "Lesca M", "initials": "LM"}, {"family": "D\u00f6rr", "given": "Marcus", "initials": "M"}, {"family": "Dichgans", "given": "Martin", "initials": "M", "orcid": "0000-0002-0654-387X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a258c2b7f8d24b14b5cafce3bafbc3cb.json"}}, {"family": "Traylor", "given": "Matthew", "initials": "M", "orcid": "0000-0001-6624-8621", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/046668b675c5433980d771634f7acff4.json"}}, {"family": "Sitzer", "given": "Matthias", "initials": "M"}, {"family": "Kumari", "given": "Meena", "initials": "M"}, {"family": "Kivimaki", "given": "Mika", "initials": "M", "orcid": "0000-0002-4699-5627", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/59d7f4b1a8f8464eba40b0abe733aae9.json"}}, {"family": "Nalls", "given": "Mike A", "initials": "MA"}, {"family": "Melander", "given": "Olle", "initials": "O"}, {"family": "Raitakari", "given": "Olli", "initials": "O"}, {"family": "Franco", "given": "Oscar H", "initials": "OH"}, {"family": "Rueda-Ochoa", "given": "Oscar L", "initials": "OL"}, {"family": "Roussos", "given": "Panos", "initials": "P", "orcid": "0000-0002-4640-6239", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/554a0259a05247e4a4a70d69a86a5f4b.json"}}, {"family": "Whincup", "given": "Peter H", "initials": "PH"}, {"family": "Amouyel", "given": "Philippe", "initials": "P", "orcid": "0000-0001-9088-234X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9bc53ec75293497bab1ec0419c6e5800.json"}}, {"family": "Giral", "given": "Philippe", "initials": "P"}, {"family": "Anugu", "given": "Pramod", "initials": "P"}, {"family": "Wong", "given": "Quenna", "initials": "Q"}, {"family": "Malik", "given": "Rainer", "initials": "R"}, {"family": "Rauramaa", "given": "Rainer", "initials": "R"}, {"family": "Burkhardt", "given": "Ralph", "initials": "R", "orcid": "0000-0003-1924-1202", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a585b2b608074d5e8011d3da9f061294.json"}}, {"family": "Hardy", "given": "Rebecca", "initials": "R"}, {"family": "Schmidt", "given": "Reinhold", "initials": "R"}, {"family": "de Mutsert", "given": "Ren\u00e9e", "initials": "R"}, {"family": "Morris", "given": "Richard W", "initials": "RW", "orcid": "0000-0001-7240-4563", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0202efb05ae84a96b89aa50725d15972.json"}}, {"family": "Strawbridge", "given": "Rona J", "initials": "RJ"}, {"family": "Wannamethee", "given": "S Goya", "initials": "SG"}, {"family": "H\u00e4gg", "given": "Sara", "initials": "S", "orcid": "0000-0002-2452-1500", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/40186021027c42e4b2ed6daf9c196a29.json"}}, {"family": "Shah", "given": "Sonia", "initials": "S"}, {"family": "McLachlan", "given": "Stela", "initials": "S"}, {"family": "Trompet", "given": "Stella", "initials": "S"}, {"family": "Seshadri", "given": "Sudha", "initials": "S"}, {"family": "Kurl", "given": "Sudhir", "initials": "S"}, {"family": "Heckbert", "given": "Susan R", "initials": "SR"}, {"family": "Ring", "given": "Susan", "initials": "S"}, {"family": "Harris", "given": "Tamara B", "initials": "TB"}, {"family": "Lehtim\u00e4ki", "given": "Terho", "initials": "T"}, {"family": "Galesloot", "given": "Tessel E", "initials": "TE"}, {"family": "Shah", "given": "Tina", "initials": "T"}, {"family": "de Faire", "given": "Ulf", "initials": "U"}, {"family": "Plagnol", "given": "Vincent", "initials": "V"}, {"family": "Rosamond", "given": "Wayne D", "initials": "WD"}, {"family": "Post", "given": "Wendy", "initials": "W"}, {"family": "Zhu", "given": "Xiaofeng", "initials": "X"}, {"family": "Zhang", "given": "Xiaoling", "initials": "X"}, {"family": "Guo", "given": "Xiuqing", "initials": "X"}, {"family": "Saba", "given": "Yasaman", "initials": "Y"}, {"family": "MEGASTROKE Consortium", "given": "", "initials": ""}, {"family": "Dehghan", "given": "Abbas", "initials": "A"}, {"family": "Seldenrijk", "given": "Adrie", "initials": "A"}, {"family": "Morrison", "given": "Alanna C", "initials": "AC"}, {"family": "Hamsten", "given": "Anders", "initials": "A"}, {"family": "Psaty", "given": "Bruce M", "initials": "BM"}, {"family": "van Duijn", "given": "Cornelia M", "initials": "CM"}, {"family": "Lawlor", "given": "Deborah A", "initials": "DA", "orcid": "0000-0002-6793-2262", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/954421c89c1645378f49e2715c05e85b.json"}}, {"family": "Mook-Kanamori", "given": "Dennis O", "initials": "DO"}, {"family": "Bowden", "given": "Donald W", "initials": "DW"}, {"family": "Schmidt", "given": "Helena", "initials": "H"}, {"family": "Wilson", "given": "James F", "initials": "JF", "orcid": "0000-0001-5751-9178", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/513b6983cc9d478ab9d81c2f21579961.json"}}, {"family": "Wilson", "given": "James G", "initials": "JG"}, {"family": "Rotter", "given": "Jerome I", "initials": "JI"}, {"family": "Wardlaw", "given": "Joanna M", "initials": "JM", "orcid": "0000-0002-9812-6642", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/31ca22721062484da864f4c0d8c1bb53.json"}}, {"family": "Deanfield", "given": "John", "initials": "J"}, {"family": "Halcox", "given": "Julian", "initials": "J"}, {"family": "Lyytik\u00e4inen", "given": "Leo-Pekka", "initials": "LP", "orcid": "0000-0002-7200-5455", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5d541c99c43642538b7578fc4ff810ad.json"}}, {"family": "Loeffler", "given": "Markus", "initials": "M"}, {"family": "Evans", "given": "Michele K", "initials": "MK"}, {"family": "Debette", "given": "St\u00e9phanie", "initials": "S"}, {"family": "Humphries", "given": "Steve E", "initials": "SE"}, {"family": "V\u00f6lker", "given": "Uwe", "initials": "U"}, {"family": "Gudnason", "given": "Vilmundur", "initials": "V", "orcid": "0000-0001-5696-0084", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8c455ccc68df48a0a56ba9f3e1cd07f4.json"}}, {"family": "Hingorani", "given": "Aroon D", "initials": "AD"}, {"family": "Bj\u00f6rkegren", "given": "Johan L M", "initials": "JLM"}, {"family": "Casas", "given": "Juan P", "initials": "JP"}, {"family": "O'Donnell", "given": "Christopher J", "initials": "CJ"}], "type": "journal article", "published": "2018-12-03", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "9", "issue": "1", "pages": "5141", "issn-l": "2041-1723"}, "abstract": "Carotid artery intima media thickness (cIMT) and carotid plaque are measures of subclinical atherosclerosis associated with ischemic stroke and coronary heart disease (CHD). Here, we undertake meta-analyses of genome-wide association studies (GWAS) in 71,128 individuals for cIMT, and 48,434 individuals for carotid plaque traits. We identify eight novel susceptibility loci for cIMT, one independent association at the previously-identified PINX1 locus, and one novel locus for carotid plaque. Colocalization analysis with nearby vascular expression quantitative loci (cis-eQTLs) derived from arterial wall and metabolic tissues obtained from patients with CHD identifies candidate genes at two potentially additional loci, ADAMTS9 and LOXL4. LD score regression reveals significant genetic correlations between cIMT and plaque traits, and both cIMT and plaque with CHD, any stroke subtype and ischemic stroke. Our study provides insights into genes and tissue-specific regulatory mechanisms linking atherosclerosis both to its functional genomic origins and its clinical consequences in humans.", "doi": "10.1038/s41467-018-07340-5", "pmid": "30510157", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC6277418"}, {"db": "pii", "key": "10.1038/s41467-018-07340-5"}], "notes": [], "created": "2026-09-23T06:47:12.934Z", "modified": "2026-09-23T06:47:13.467Z"}]}