{"entity": "researcher", "timestamp": "2026-09-23T15:07:48.032Z", "family": "Khor", "given": "Chiea-Chuen", "initials": "CC", "orcid": "0000-0002-1128-4729", "affiliations": ["Singapore Eye Research Institute, Singapore National Eye Center, Singapore, Singapore.", "Genome Institute of Singapore, Agency for Science Technology and Research, Singapore, Singapore."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/02a7a47e88ec4e20960946da58a62f00.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/02a7a47e88ec4e20960946da58a62f00"}}, "publications": [{"entity": "publication", "iuid": "ba7df0d3aa20483b85f4166152c0711a", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/ba7df0d3aa20483b85f4166152c0711a.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/ba7df0d3aa20483b85f4166152c0711a"}}, "title": "Identification of constrained sequence elements across 239 primate genomes.", "authors": [{"family": "Kuderna", "given": "Lukas F K", "initials": "LFK", "orcid": "0000-0002-9992-9295", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/29561e4d75ad4c57948c85a1b92b5806.json"}}, {"family": "Ulirsch", "given": "Jacob C", "initials": "JC"}, {"family": "Rashid", "given": "Sabrina", "initials": "S"}, {"family": "Ameen", "given": "Mohamed", "initials": "M"}, {"family": "Sundaram", "given": "Laksshman", "initials": "L"}, {"family": "Hickey", "given": "Glenn", "initials": "G", "orcid": "0000-0002-2280-9404", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/15fa540db2cc4c528124c0db35f9b754.json"}}, {"family": "Cox", "given": "Anthony J", "initials": "AJ"}, {"family": "Gao", "given": "Hong", "initials": "H", "orcid": "0000-0001-6274-4513", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e28e566ef4d04a10a8e97fa6d56976ca.json"}}, {"family": "Kumar", 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"given": "Chiea Chuen", "initials": "CC", "orcid": "0000-0002-1128-4729", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/02a7a47e88ec4e20960946da58a62f00.json"}}, {"family": "Lee", "given": "Jessica", "initials": "J", "orcid": "0000-0003-0757-4237", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2e958658ef29404088df6f242d9973eb.json"}}, {"family": "Tan", "given": "Patrick", "initials": "P", "orcid": "0000-0002-0179-8048", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ad1668c0c0e54aa0b2830373a51204f0.json"}}, {"family": "Lim", "given": "Weng Khong", "initials": "WK", "orcid": "0000-0003-4391-1130", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/48d5aa8592a94f89b705e94a7c10f140.json"}}, {"family": "Kitchener", "given": "Andrew C", "initials": "AC", "orcid": "0000-0003-2594-0827", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4f3f25337629449eac945da65cd27218.json"}}, {"family": "Zinner", "given": "Dietmar", "initials": "D", "orcid": "0000-0003-3967-8014", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/81e56011837f4387b227584df487a002.json"}}, {"family": "Gut", "given": "Ivo", "initials": "I", "orcid": "0000-0001-7219-632X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/30b9984db1b749e2967f28dc9b631c20.json"}}, {"family": "Melin", "given": "Amanda D", "initials": "AD", "orcid": "0000-0002-0612-2514", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9d80e58dff0548afb3b271a0d0b10261.json"}}, {"family": "Guschanski", "given": "Katerina", "initials": "K", "orcid": "0000-0002-8493-5457", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4e062373c6bc46b98e56215d3ec89eeb.json"}}, {"family": "Schierup", "given": "Mikkel Heide", "initials": "MH", "orcid": "0000-0002-5028-1790", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b16855b7b12340028eb7bafccc54e866.json"}}, {"family": "Beck", "given": "Robin M D", "initials": "RMD", "orcid": "0000-0002-7050-7072", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9e4ff98a4084469da7435d0c89103cc1.json"}}, {"family": "Karakikes", "given": "Ioannis", "initials": "I"}, {"family": "Wang", "given": "Kevin C", "initials": "KC"}, {"family": "Umapathy", "given": "Govindhaswamy", "initials": "G", "orcid": "0000-0003-4086-7445", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/490d427821e9498ba68adf4d78b45910.json"}}, {"family": "Roos", "given": "Christian", "initials": "C", "orcid": "0000-0003-0190-4266", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5a80d7f634ef44c69d1ff3e3ed0ca1f8.json"}}, {"family": "Boubli", "given": "Jean P", "initials": "JP", "orcid": "0000-0002-5833-9264", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4e385d77578442ce8f8cd82fe273f2ab.json"}}, {"family": "Siepel", "given": "Adam", "initials": "A", "orcid": "0000-0002-3557-7219", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c45291652b424b90b5c8c87eb072e6fd.json"}}, {"family": "Kundaje", "given": "Anshul", "initials": "A"}, {"family": "Paten", "given": "Benedict", "initials": "B", "orcid": "0000-0001-8863-3539", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c916e24b35f2459480cf87e27bb21ee1.json"}}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K", "orcid": "0000-0001-8338-0253", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/612a779b69494f1ca9b6c5f1d84fd711.json"}}, {"family": "Rogers", "given": "Jeffrey", "initials": "J", "orcid": "0000-0002-7374-6490", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2447e7e528854175bc2211b320c926c0.json"}}, {"family": "Marques Bonet", "given": "Tomas", "initials": "T", "orcid": "0000-0002-5597-3075", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1091cb5bfe394d459969d24bb1c22c66.json"}}, {"family": "Farh", "given": "Kyle Kai-How", "initials": "KK", "orcid": "0000-0001-6947-8537", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e26652330e794c388fa38913fbd17703.json"}}], "type": "comparative study", "published": "2024-01-00", "journal": {"title": "Nature", "issn": "1476-4687", "volume": "625", "issue": "7996", "pages": "735-742", "issn-l": "0028-0836"}, "abstract": "Noncoding DNA is central to our understanding of human gene regulation and complex diseases1,2, and measuring the evolutionary sequence constraint can establish the functional relevance of putative regulatory elements in the human genome3-9. Identifying the genomic elements that have become constrained specifically in primates has been hampered by the faster evolution of noncoding DNA compared to protein-coding DNA10, the relatively short timescales separating primate species11, and the previously limited availability of whole-genome sequences12. Here we construct a whole-genome alignment of 239 species, representing nearly half of all extant species in the primate order. Using this resource, we identified human regulatory elements that are under selective constraint across primates and other mammals at a 5% false discovery rate. We detected 111,318 DNase I hypersensitivity sites and 267,410 transcription factor binding sites that are constrained specifically in primates but not across other placental mammals and validate their cis-regulatory effects on gene expression. These regulatory elements are enriched for human genetic variants that affect gene expression and complex traits and diseases. Our results highlight the important role of recent evolution in regulatory sequence elements differentiating primates, including humans, from other placental mammals.", "doi": "10.1038/s41586-023-06798-8", "pmid": "38030727", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC10808062"}, {"db": "pii", "key": "10.1038/s41586-023-06798-8"}], "notes": [], "created": "2026-09-23T07:36:26.885Z", "modified": "2026-09-23T07:36:28.837Z"}, {"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", "initials": "I", "orcid": "0000-0003-3196-2491", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c1c864491a214d3a89bda12cd8600dc7.json"}}, {"family": "Mattsson", "given": "Hannele", "initials": "H"}, {"family": "Barnes", "given": "Catriona L K", "initials": "CLK"}, {"family": "Lin", "given": "Kuang", "initials": "K"}, {"family": "Zhao", "given": "Jing Hua", "initials": "JH"}, {"family": "Deelen", "given": "Patrick", "initials": "P", "orcid": "0000-0002-5654-3966", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/53d4d348df4948afa6a1dc7b53a798aa.json"}}, {"family": "Rohde", "given": "Rebecca", "initials": "R"}, {"family": "Schurmann", "given": "Claudia", "initials": "C", "orcid": "0000-0003-4158-9192", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2ad5e5cf1d3148b495830a8d4507c72b.json"}}, {"family": "Guo", "given": "Xiuqing", "initials": "X"}, {"family": "Giulianini", "given": "Franco", 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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"}, {"entity": "publication", "iuid": "8fd0370dd27241dfaeb90c51aa701cec", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/8fd0370dd27241dfaeb90c51aa701cec.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/8fd0370dd27241dfaeb90c51aa701cec"}}, "title": "Sequence data and association statistics from 12,940 type 2 diabetes cases and controls.", "authors": [{"family": "Flannick", "given": "Jason", "initials": "J"}, {"family": "Fuchsberger", "given": "Christian", "initials": "C"}, {"family": "Mahajan", "given": "Anubha", 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"Frayling", "given": "Timothy M", "initials": "TM"}, {"family": "Meigs", "given": "James B", "initials": "JB"}, {"family": "Cox", "given": "Nancy J", "initials": "NJ"}, {"family": "Sladek", "given": "Rob", "initials": "R"}, {"family": "Lander", "given": "Eric S", "initials": "ES"}, {"family": "Gabriel", "given": "Stacey", "initials": "S"}, {"family": "Mohlke", "given": "Karen L", "initials": "KL", "orcid": "0000-0001-6721-153X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fac0e041c56347fe98cef9ae8f004b67.json"}}, {"family": "Meitinger", "given": "Thomas", "initials": "T"}, {"family": "Groop", "given": "Leif", "initials": "L", "orcid": "0000-0002-0187-3263", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6b549c1ef49648bf81c481bc88857552.json"}}, {"family": "Abecasis", "given": "Goncalo", "initials": "G"}, {"family": "Scott", "given": "Laura J", "initials": "LJ"}, {"family": "Morris", "given": "Andrew P", "initials": "AP"}, {"family": "Kang", "given": "Hyun Min", "initials": "HM"}, {"family": "Altshuler", "given": "David", "initials": "D"}, {"family": "Burtt", "given": "No\u00ebl P", "initials": "NP"}, {"family": "Florez", "given": "Jose C", "initials": "JC"}, {"family": "Boehnke", "given": "Michael", "initials": "M"}, {"family": "McCarthy", "given": "Mark I", "initials": "MI"}], "type": "dataset", "published": "2017-12-19", "journal": {"title": "Sci Data", "issn": "2052-4463", "volume": "4", "issue": null, "pages": "170179", "issn-l": "2052-4463"}, "abstract": "To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (>80% of low-frequency coding variants in ~82 K Europeans via the exome chip, and ~90% of low-frequency non-coding variants in ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.", "doi": "10.1038/sdata.2017.179", "pmid": "29257133", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC5735917"}, {"db": "pii", "key": "sdata2017179"}], "notes": [], "created": "2018-12-05T12:07:44.419Z", "modified": "2026-09-23T13:42:52.990Z"}]}