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{"family": "Vasconcelos", "given": "Ana Tereza Ribeiro", "initials": "ATR", "orcid": "0000-0002-4632-2086", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/aa51e7f54aed49ff96b04308f3c4bd37.json"}}, {"family": "Mello", "given": "Claudio V", "initials": "CV", "orcid": "0000-0002-9826-8421", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/59cad1e82ebc4095875ebe6b1c8f253d.json"}}, {"family": "Weir", "given": "Jason T", "initials": "JT", "orcid": "0000-0001-8372-9937", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/59400a6b015e4ac7a81916f09f6511d9.json"}}, {"family": "Haussler", "given": "David", "initials": "D", "orcid": "0000-0003-1533-4575", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c4b918ad2e1c4544a4a52dfd64f6ebba.json"}}, {"family": "Li", "given": "Qiye", "initials": "Q", "orcid": "0000-0002-5993-0312", "researcher": {"href": 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"Benedict", "initials": "B", "orcid": "0000-0001-8863-3539", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c916e24b35f2459480cf87e27bb21ee1.json"}}, {"family": "Zhang", "given": "Guojie", "initials": "G", "orcid": "0000-0001-6860-1521", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9ec2e418a32c4161abc876171467f5ea.json"}}], "type": "journal article", "published": "2020-11-00", "journal": {"title": "Nature", "issn": "1476-4687", "volume": "587", "issue": "7833", "pages": "252-257", "issn-l": "0028-0836"}, "abstract": "Whole-genome sequencing projects are increasingly populating the tree of life and characterizing biodiversity1-4. Sparse taxon sampling has previously been proposed to confound phylogenetic inference5, and captures only a fraction of the genomic diversity. Here we report a substantial step towards the dense representation of avian phylogenetic and molecular diversity, by analysing 363 genomes from 92.4% of bird families-including 267 newly sequenced genomes produced for phase II of the Bird 10,000 Genomes (B10K) Project. We use this comparative genome dataset in combination with a pipeline that leverages a reference-free whole-genome alignment to identify orthologous regions in greater numbers than has previously been possible and to recognize genomic novelties in particular bird lineages. The densely sampled alignment provides a single-base-pair map of selection, has more than doubled the fraction of bases that are confidently predicted to be under conservation and reveals extensive patterns of weak selection in predominantly non-coding DNA. Our results demonstrate that increasing the diversity of genomes used in comparative studies can reveal more shared and lineage-specific variation, and improve the investigation of genomic characteristics. We anticipate that this genomic resource will offer new perspectives on evolutionary processes in cross-species comparative analyses and assist in efforts to conserve species.", "doi": "10.1038/s41586-020-2873-9", "pmid": "33177665", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC7759463"}, {"db": "pii", "key": "10.1038/s41586-020-2873-9"}], "notes": [], "created": "2026-09-23T06:32:33.498Z", "modified": "2026-09-23T06:32:35.395Z"}, {"entity": "publication", "iuid": "9543399bd40548ba8e729eaf5e9d229c", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/9543399bd40548ba8e729eaf5e9d229c.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/9543399bd40548ba8e729eaf5e9d229c"}}, "title": "Associations of autozygosity with a broad range of human phenotypes.", "authors": [{"family": "Clark", "given": "David W", "initials": "DW", "orcid": "0000-0002-1025-9185", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/336d7a280c1944cb9c099962fb7108c6.json"}}, {"family": "Okada", "given": "Yukinori", "initials": "Y", "orcid": "0000-0002-0311-8472", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2b7e4b24ebe8458592e8536be3da6164.json"}}, {"family": "Moore", "given": "Kristjan H S", "initials": "KHS", "orcid": "0000-0002-9579-4362", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5aaab304efac40c2b639befa3533f481.json"}}, {"family": "Mason", "given": "Dan", "initials": "D", "orcid": "0000-0002-0026-9216", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/846c3d0d89744d31878163b961f24b40.json"}}, {"family": "Pirastu", "given": "Nicola", "initials": "N", "orcid": "0000-0002-5363-3886", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5dbbed4477534f17ab7574658c03588a.json"}}, {"family": "Gandin", "given": "Ilaria", 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"https://publications-affiliated.scilifelab.se/researcher/0706f9fec8d14cfe88cc03e6c7bf06e3.json"}}, {"family": "Sotoodehnia", "given": "Nona", "initials": "N"}, {"family": "Tai", "given": "E-Shyong", "initials": "ES"}, {"family": "Teumer", "given": "Alexander", "initials": "A", "orcid": "0000-0002-8309-094X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1a40a959d1b8480cb8268e00f77a0449.json"}}, {"family": "Timpson", "given": "Nicholas J", "initials": "NJ", "orcid": "0000-0002-7141-9189", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4746ddba0e7f40a5af1e2fee8c7b6b7c.json"}}, {"family": "Toniolo", "given": "Daniela", "initials": "D"}, {"family": "Tregouet", "given": "David-Alexandre", "initials": "DA"}, {"family": "Tuomi", "given": "Tiinamaija", "initials": "T", "orcid": "0000-0002-8306-6202", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/931a239e555b4448b03a9d44170d3c3f.json"}}, {"family": "Vollenweider", "given": "Peter", "initials": "P"}, {"family": "Wang", "given": "Carol A", "initials": "CA", "orcid": "0000-0002-4301-3974", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4c220c449da54501bfec3d746b246ef2.json"}}, {"family": "Weir", "given": "David R", "initials": "DR", "orcid": "0000-0002-1661-2402", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4105b31d72044f76bfd07ca12a274569.json"}}, {"family": "Whitfield", "given": "John B", "initials": "JB", "orcid": "0000-0002-1103-0876", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/03a80330db9147cc873b7e5cbee3ebaa.json"}}, {"family": "Wijmenga", "given": "Cisca", "initials": "C"}, {"family": "Wong", "given": "Tien-Yin", "initials": "TY"}, {"family": "Wright", "given": "John", "initials": "J"}, {"family": "Yang", "given": "Jingyun", "initials": "J"}, {"family": "Yu", "given": "Lei", "initials": "L"}, {"family": "Zemel", "given": "Babette S", "initials": "BS"}, {"family": "Zonderman", "given": "Alan B", "initials": "AB"}, {"family": "Perola", "given": "Markus", "initials": "M"}, {"family": "Magnusson", "given": "Patrik K E", "initials": "PKE", "orcid": "0000-0002-7315-7899", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d6fa8b01df9f4bf68607603c51c5a106.json"}}, {"family": "Uitterlinden", "given": "Andr\u00e9 G", "initials": "AG", "orcid": "0000-0002-7276-3387", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/aee3acd4781c4c678184783464f77f1d.json"}}, {"family": "Kooner", "given": "Jaspal S", "initials": "JS"}, {"family": "Chasman", "given": "Daniel I", "initials": "DI"}, {"family": "Loos", "given": "Ruth J F", "initials": "RJF", "orcid": "0000-0002-8532-5087", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/179eb6511eba4d33b633599c5652e344.json"}}, {"family": "Franceschini", "given": "Nora", "initials": "N"}, {"family": "Franke", "given": "Lude", "initials": "L", "orcid": "0000-0002-5159-8802", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e0a825c1d31c458e872fa6c79d30f02e.json"}}, {"family": "Haley", "given": "Chris S", "initials": "CS", "orcid": "0000-0002-9811-0210", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/328821d953534bf0b41867cb7f6aba9d.json"}}, {"family": "Hayward", "given": "Caroline", "initials": "C", "orcid": "0000-0002-9405-9550", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/542b00d650124ce4a3776ae95571e2c1.json"}}, {"family": "Walters", "given": "Robin G", "initials": "RG", "orcid": "0000-0002-9179-0321", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4c4c1c5209be401c91b60553e49c282c.json"}}, {"family": "Perry", "given": "John R B", "initials": "JRB"}, {"family": "Esko", "given": "T\u014dnu", "initials": "T"}, {"family": "Helgason", "given": "Agnar", "initials": "A"}, {"family": "Stefansson", "given": "Kari", "initials": "K"}, {"family": "Joshi", "given": "Peter K", "initials": "PK", "orcid": "0000-0002-6361-5059", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/67a2c02915a5435d8ff7e148eeab9cc8.json"}}, {"family": "Kubo", "given": "Michiaki", "initials": "M"}, {"family": "Wilson", "given": "James F", "initials": "JF", "orcid": "0000-0001-5751-9178", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/513b6983cc9d478ab9d81c2f21579961.json"}}], "type": "journal article", "published": "2019-10-31", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "10", "issue": "1", "pages": "4957", "issn-l": "2041-1723"}, "abstract": "In many species, the offspring of related parents suffer reduced reproductive success, a phenomenon known as inbreeding depression. In humans, the importance of this effect has remained unclear, partly because reproduction between close relatives is both rare and frequently associated with confounding social factors. Here, using genomic inbreeding coefficients (FROH) for >1.4 million individuals, we show that FROH is significantly associated (p < 0.0005) with apparently deleterious changes in 32 out of 100 traits analysed. These changes are associated with runs of homozygosity (ROH), but not with common variant homozygosity, suggesting that genetic variants associated with inbreeding depression are predominantly rare. The effect on fertility is striking: FROH equivalent to the offspring of first cousins is associated with a 55% decrease [95% CI 44-66%] in the odds of having children. Finally, the effects of FROH are confirmed within full-sibling pairs, where the variation in FROH is independent of all environmental confounding.", "doi": "10.1038/s41467-019-12283-6", "pmid": "31673082", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC6823371"}, {"db": "pii", "key": "10.1038/s41467-019-12283-6"}], "notes": [], "created": "2026-09-23T06:47:16.186Z", "modified": "2026-09-23T06:47:19.313Z"}, {"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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"TL", "orcid": "0000-0003-4318-6119", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a8c555d3f6704b69821f39dcac8984d5.json"}}, {"family": "Ho", "given": "Kevin", "initials": "K", "orcid": "0000-0002-3054-8697", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2ed493f085c64c5584d14c68bd53e037.json"}}, {"family": "Morris", "given": "Andrew P", "initials": "AP", "orcid": "0000-0002-6805-6014", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/aaff6a0afcdf464a8de49c2ece7399e2.json"}}, {"family": "Parsa", "given": "Afshin", "initials": "A"}, {"family": "Pendergrass", "given": "Sarah A", "initials": "SA", "orcid": "0000-0002-0565-6522", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/815e8aaac17349a7b4ceabd872f83e16.json"}}, {"family": "Psaty", "given": "Bruce M", "initials": "BM"}, {"family": "Rotter", "given": "Jerome I", "initials": "JI", "orcid": "0000-0001-7191-1723", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/50edc25b80cc48b699db367e372fded5.json"}}, {"family": "Stefansson", "given": "Kari", "initials": "K", "orcid": "0000-0003-1676-864X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9edf80871ac84e76a4d1316fc7079d7d.json"}}, {"family": "Wilson", "given": "James G", "initials": "JG"}, {"family": "Susztak", "given": "Katalin", "initials": "K", "orcid": "0000-0002-1005-3726", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6903d896819e46018a44e37d4ec59435.json"}}, {"family": "Snieder", "given": "Harold", "initials": "H"}, {"family": "Heid", "given": "Iris M", "initials": "IM"}, {"family": "Scholz", "given": "Markus", "initials": "M", "orcid": "0000-0002-4059-1779", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5283e0dd4ad745938042b3fb48fcb73d.json"}}, {"family": "Butterworth", "given": "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", 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"Snieder", "given": "Harold", "initials": "H"}, {"family": "Stefansson", "given": "Kari", "initials": "K", "orcid": "0000-0003-1676-864X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9edf80871ac84e76a4d1316fc7079d7d.json"}}, {"family": "Hung", "given": "Adriana M", "initials": "AM", "orcid": "0000-0002-3203-1608", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8c9c6d7e42fd4f1bb64e93c1660a6010.json"}}, {"family": "Heid", "given": "Iris M", "initials": "IM"}, {"family": "Scholz", "given": "Markus", "initials": "M", "orcid": "0000-0002-4059-1779", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5283e0dd4ad745938042b3fb48fcb73d.json"}}, {"family": "Teumer", "given": "Alexander", "initials": "A", "orcid": "0000-0002-8309-094X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1a40a959d1b8480cb8268e00f77a0449.json"}}, {"family": "K\u00f6ttgen", "given": "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"}]}