{"entity": "researcher", "timestamp": "2026-07-11T14:49:27.038Z", "family": "Mohlke", "given": "Karen L", "initials": "KL", "orcid": "0000-0001-6721-153X", "affiliations": ["Department of Genetics, University of North Carolina, Chapel Hill, NC, USA."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/7c11d7ab911243edb9e2696efd95ecd4.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/7c11d7ab911243edb9e2696efd95ecd4"}}, "publications": [{"entity": "publication", "iuid": "9100a2388b73463d97cf05a0164a759e", "links": {"self": {"href": "https://publications.scilifelab.se/publication/9100a2388b73463d97cf05a0164a759e.json"}, "display": {"href": "https://publications.scilifelab.se/publication/9100a2388b73463d97cf05a0164a759e"}}, "title": "Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake.", "authors": [{"family": "Williamson", "given": "Alice", "initials": "A", "orcid": "0000-0002-7599-9301", "researcher": {"href": "https://publications.scilifelab.se/researcher/c202432e49b84fe59c9fdea5ffc8b3e6.json"}}, {"family": "Norris", "given": "Dougall M", "initials": "DM"}, {"family": "Yin", "given": "Xianyong", "initials": "X"}, {"family": "Broadaway", "given": "K Alaine", "initials": "KA"}, {"family": "Moxley", "given": "Anne H", "initials": "AH"}, {"family": "Vadlamudi", "given": "Swarooparani", "initials": "S"}, {"family": "Wilson", "given": "Emma P", "initials": "EP"}, {"family": "Jackson", "given": "Anne U", "initials": "AU", "orcid": "0000-0002-9672-2547", "researcher": {"href": "https://publications.scilifelab.se/researcher/b8230afabb0b4dcda8dc58ead349aea0.json"}}, {"family": "Ahuja", "given": "Vasudha", "initials": "V"}, {"family": "Andersen", "given": "Mette K", "initials": "MK", "orcid": "0000-0001-8227-1469", "researcher": {"href": "https://publications.scilifelab.se/researcher/dac5dfaabb5d49a29f4251e63d4c5a07.json"}}, {"family": "Arzumanyan", 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"Xiang", "given": "Anny H", "initials": "AH"}, {"family": "Zethelius", "given": "Bj\u00f6rn", "initials": "B"}, {"family": "Meta-Analysis of Glucose and Insulin-related Traits Consortium (MAGIC)", "given": "", "initials": ""}, {"family": "Ahlqvist", "given": "Emma", "initials": "E", "orcid": "0000-0002-6513-2384", "researcher": {"href": "https://publications.scilifelab.se/researcher/415b737a7da04f13ab0fd104c375b097.json"}}, {"family": "Bergman", "given": "Richard N", "initials": "RN"}, {"family": "Chen", "given": "Yii-Der Ida", "initials": "YI"}, {"family": "Collins", "given": "Francis S", "initials": "FS", "orcid": "0000-0002-1023-7410", "researcher": {"href": "https://publications.scilifelab.se/researcher/10628a7a84cb4c7dbd6c161a8723ccbb.json"}}, {"family": "Fall", "given": "Tove", "initials": "T", "orcid": "0000-0003-2071-5866", "researcher": {"href": "https://publications.scilifelab.se/researcher/4ed3f066719f43b291743a8bdaf3d2a0.json"}}, {"family": "Florez", "given": "Jose C", "initials": "JC"}, {"family": "Fritsche", "given": "Andreas", "initials": "A"}, {"family": "Grallert", "given": "Harald", "initials": "H"}, {"family": "Groop", "given": "Leif", "initials": "L", "orcid": "0000-0002-0187-3263", "researcher": {"href": "https://publications.scilifelab.se/researcher/8e1c35ae04cd4e9e9525fbc844d15e14.json"}}, {"family": "Hansen", "given": "Torben", "initials": "T", "orcid": "0000-0001-8748-3831", "researcher": {"href": "https://publications.scilifelab.se/researcher/da403496660346079fc41975cae418d9.json"}}, {"family": "Koistinen", "given": "Heikki A", "initials": "HA", "orcid": "0000-0001-7870-070X", "researcher": {"href": "https://publications.scilifelab.se/researcher/c57dc904034d47a8b43d6cae1b1bd6f4.json"}}, {"family": "Komulainen", "given": "Pirjo", "initials": "P"}, {"family": "Laakso", "given": "Markku", "initials": "M", "orcid": "0000-0002-3394-7749", "researcher": {"href": 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"0000-0003-2247-8454", "researcher": {"href": "https://publications.scilifelab.se/researcher/91a40d3c138d43f2b0d38f66be4b71c7.json"}}, {"family": "T\u00f6njes", "given": "Anke", "initials": "A"}, {"family": "Tuomi", "given": "Tiinamaija", "initials": "T", "orcid": "0000-0002-8306-6202", "researcher": {"href": "https://publications.scilifelab.se/researcher/19f5ce9936ca454c85f0af966acac5c0.json"}}, {"family": "Tuomilehto", "given": "Jaakko", "initials": "J"}, {"family": "Wagner", "given": "Robert", "initials": "R", "orcid": "0000-0002-6120-0191", "researcher": {"href": "https://publications.scilifelab.se/researcher/26361c8c7fc24433832ae95bb52c55ff.json"}}, {"family": "Barroso", "given": "In\u00eas", "initials": "I", "orcid": "0000-0001-5800-4520", "researcher": {"href": "https://publications.scilifelab.se/researcher/c2dc6be9aa194bdc9a161e551d5e6747.json"}}, {"family": "Walker", "given": "Mark", "initials": "M"}, {"family": "Grarup", "given": "Niels", "initials": "N", "orcid": "0000-0001-5526-1070", "researcher": {"href": "https://publications.scilifelab.se/researcher/eefb6d29ce1b4e319e9495734175036d.json"}}, {"family": "Boehnke", "given": "Michael", "initials": "M", "orcid": "0000-0002-6442-7754", "researcher": {"href": "https://publications.scilifelab.se/researcher/b8cb72bdcea4492199a1b9d8ac406ac7.json"}}, {"family": "Wareham", "given": "Nicholas J", "initials": "NJ", "orcid": "0000-0003-1422-2993", "researcher": {"href": "https://publications.scilifelab.se/researcher/176d8605b9ac4ecbbd5c197335769814.json"}}, {"family": "Mohlke", "given": "Karen L", "initials": "KL", "orcid": "0000-0001-6721-153X", "researcher": {"href": "https://publications.scilifelab.se/researcher/7c11d7ab911243edb9e2696efd95ecd4.json"}}, {"family": "Wheeler", "given": "Eleanor", "initials": "E", "orcid": "0000-0002-8616-6444", "researcher": {"href": "https://publications.scilifelab.se/researcher/f7ed362ab4ba4b76b0ee743de84370c4.json"}}, {"family": "O'Rahilly", "given": "Stephen", "initials": "S", "orcid": "0000-0003-2199-4449", "researcher": {"href": "https://publications.scilifelab.se/researcher/c599d6c6dd044335aa326acda778096f.json"}}, {"family": "Fazakerley", "given": "Daniel J", "initials": "DJ", "orcid": "0000-0001-8241-2903", "researcher": {"href": "https://publications.scilifelab.se/researcher/4f41c07e336349e4b3c69d93535e2508.json"}}, {"family": "Langenberg", "given": "Claudia", "initials": "C", "orcid": "0000-0002-5017-7344", "researcher": {"href": "https://publications.scilifelab.se/researcher/ca19370bb4d6437aa9df3905db9d3dd2.json"}}], "type": "journal article", "published": "2023-06-00", "journal": {"title": "Nat. Genet.", "issn": "1546-1718", "volume": "55", "issue": "6", "pages": "973-983", "issn-l": "1061-4036"}, "abstract": "Distinct tissue-specific mechanisms mediate insulin action in fasting and postprandial states. Previous genetic studies have largely focused on insulin resistance in the fasting state, where hepatic insulin action dominates. Here we studied genetic variants influencing insulin levels measured 2 h after a glucose challenge in >55,000 participants from three ancestry groups. We identified ten new loci (P < 5 \u00d7 10-8) not previously associated with postchallenge insulin resistance, eight of which were shown to share their genetic architecture with type 2 diabetes in colocalization analyses. We investigated candidate genes at a subset of associated loci in cultured cells and identified nine candidate genes newly implicated in the expression or trafficking of GLUT4, the key glucose transporter in postprandial glucose uptake in muscle and fat. By focusing on postprandial insulin resistance, we highlighted the mechanisms of action at type 2 diabetes loci that are not adequately captured by studies of fasting glycemic traits.", "doi": "10.1038/s41588-023-01408-9", "pmid": "37291194", "labels": {"NGI SNP genotyping": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [{"db": "mid", "key": "EMS178611"}, {"db": "pmc", "key": "PMC7614755"}, {"db": "pii", "key": "10.1038/s41588-023-01408-9"}], "notes": [], "created": "2023-11-29T10:58:43.096Z", "modified": "2023-11-29T10:58:43.909Z"}, {"entity": "publication", "iuid": "20044ca7f045473daf17863e0344b451", "links": {"self": {"href": "https://publications.scilifelab.se/publication/20044ca7f045473daf17863e0344b451.json"}, "display": {"href": "https://publications.scilifelab.se/publication/20044ca7f045473daf17863e0344b451"}}, "title": "Differential and shared genetic effects on kidney function between diabetic and 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"https://publications.scilifelab.se/researcher/34990140a9604dd7b61807dafc8fabc6.json"}}], "type": "journal article", "published": "2022-06-13", "journal": {"title": "Commun Biol", "issn": "2399-3642", "volume": "5", "issue": "1", "pages": "580", "issn-l": "2399-3642"}, "abstract": "Reduced glomerular filtration rate (GFR) can progress to kidney failure. Risk factors include genetics and diabetes mellitus (DM), but little is known about their interaction. We conducted genome-wide association meta-analyses for estimated GFR based on serum creatinine (eGFR), separately for individuals with or without DM (nDM = 178,691, nnoDM = 1,296,113). Our genome-wide searches identified (i) seven eGFR loci with significant DM/noDM-difference, (ii) four additional novel loci with suggestive difference and (iii) 28 further novel loci (including CUBN) by allowing for potential difference. GWAS on eGFR among DM individuals identified 2 known and 27 potentially responsible loci for diabetic kidney disease. Gene prioritization highlighted 18 genes that may inform reno-protective drug development. We highlight the existence of DM-only and noDM-only effects, which can inform about the target group, if respective genes are advanced as drug targets. Largely shared effects suggest that most drug interventions to alter eGFR should be effective in DM and noDM.", "doi": "10.1038/s42003-022-03448-z", "pmid": "35697829", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "NGI SNP genotyping": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s42003-022-03448-z"}, {"db": "pmc", "key": "PMC9192715"}], "notes": [], "created": "2022-06-14T13:16:22.813Z", "modified": "2022-11-21T15:40:40.440Z"}, {"entity": "publication", "iuid": "e389be71822d45d6ac04d848bfb48df6", "links": {"self": {"href": "https://publications.scilifelab.se/publication/e389be71822d45d6ac04d848bfb48df6.json"}, "display": {"href": "https://publications.scilifelab.se/publication/e389be71822d45d6ac04d848bfb48df6"}}, "title": "The power of genetic diversity in genome-wide association studies of lipids.", "authors": [{"family": "Graham", "given": "Sarah E", "initials": "SE", "orcid": "0000-0003-1271-2489", 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"orcid": "0000-0002-9073-9436", "researcher": {"href": "https://publications.scilifelab.se/researcher/c566d57cdf9b43498cd9583fbb6c4c73.json"}}, {"family": "Kim", "given": "Bong-Jo", "initials": "BJ"}, {"family": "Mohlke", "given": "Karen L", "initials": "KL", "orcid": "0000-0001-6721-153X", "researcher": {"href": "https://publications.scilifelab.se/researcher/7c11d7ab911243edb9e2696efd95ecd4.json"}}, {"family": "Frayling", "given": "Timothy M", "initials": "TM"}, {"family": "Hirschhorn", "given": "Joel N", "initials": "JN", "orcid": "0000-0002-1650-7901", "researcher": {"href": "https://publications.scilifelab.se/researcher/79e3bb42733c4904a4543cb3b6397c0f.json"}}, {"family": "Kathiresan", "given": "Sekar", "initials": "S"}, {"family": "VA Million Veteran Program", "given": "", "initials": ""}, {"family": "Global Lipids Genetics Consortium*", "given": "", "initials": ""}, {"family": "Boehnke", "given": "Michael", "initials": "M", "orcid": "0000-0002-6442-7754", "researcher": {"href": "https://publications.scilifelab.se/researcher/b8cb72bdcea4492199a1b9d8ac406ac7.json"}}, {"family": "Natarajan", "given": "Pradeep", "initials": "P"}, {"family": "Peloso", "given": "Gina M", "initials": "GM", "orcid": "0000-0002-5355-8636", "researcher": {"href": "https://publications.scilifelab.se/researcher/3a0c07ebec3741efa6ef71d416e7c66a.json"}}, {"family": "Brown", "given": "Christopher D", "initials": "CD"}, {"family": "Morris", "given": "Andrew P", "initials": "AP", "orcid": "0000-0002-6805-6014", "researcher": {"href": "https://publications.scilifelab.se/researcher/991fd686a4a040a1a197c1f32d5b731b.json"}}, {"family": "Assimes", "given": "Themistocles L", "initials": "TL", "orcid": "0000-0003-2349-0009", "researcher": {"href": "https://publications.scilifelab.se/researcher/9e155ca3dd01486580be888d1ded405c.json"}}, {"family": "Deloukas", "given": "Panos", "initials": "P", "orcid": "0000-0001-9251-070X", "researcher": {"href": "https://publications.scilifelab.se/researcher/eb59dbd2f2204d41b801c41188611a9e.json"}}, {"family": "Sun", "given": "Yan V", "initials": "YV", "orcid": "0000-0002-2838-1824", "researcher": {"href": "https://publications.scilifelab.se/researcher/c6299caf6b6342fdbfab4c0d9738b28f.json"}}, {"family": "Willer", "given": "Cristen J", "initials": "CJ", "orcid": "0000-0001-5645-4966", "researcher": {"href": "https://publications.scilifelab.se/researcher/b3a8e1d33146452b87e7e21eb5339f80.json"}}], "type": "journal article", "published": "2021-12-00", "journal": {"title": "Nature", "issn": "1476-4687", "volume": "600", "issue": "7890", "pages": "675-679", "issn-l": "0028-0836"}, "abstract": "Increased blood lipid levels are heritable risk factors of cardiovascular disease with varied prevalence worldwide owing to different dietary patterns and medication use1. Despite advances in prevention and treatment, in particular through reducing low-density lipoprotein cholesterol levels2, heart disease remains the leading cause of death worldwide3. Genome-wideassociation studies (GWAS) of blood lipid levels have led to important biological and clinical insights, as well as new drug targets, for cardiovascular disease. However, most previous GWAS4-23 have been conducted in European ancestry populations and may have missed genetic variants that contribute to lipid-level variation in other ancestry groups. These include differences in allele frequencies, effect sizes and linkage-disequilibrium patterns24. Here we conduct a multi-ancestry, genome-wide genetic discovery meta-analysis of lipid levels in approximately 1.65 million individuals, including 350,000 of non-European ancestries. We quantify the gain in studying non-European ancestries and provide evidence to support the expansion of recruitment of additional ancestries, even with relatively small sample sizes. We find that increasing diversity rather than studying additional individuals of European ancestry results in substantial improvements in fine-mapping functional variants and portability of polygenic prediction (evaluated in approximately 295,000 individuals from 7 ancestry groupings). Modest gains in the number of discovered loci and ancestry-specific variants were also achieved. As GWAS expand emphasis beyond the identification of genes and fundamental biology towards the use of genetic variants for preventive and precision medicine25, we anticipate that increased diversity of participants will lead to more accurate and equitable26 application of polygenic scores in clinical practice.", "doi": "10.1038/s41586-021-04064-3", "pmid": "34887591", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "mid", "key": "NIHMS1758809"}, {"db": "pmc", "key": "PMC8730582"}, {"db": "pii", "key": "10.1038/s41586-021-04064-3"}], "notes": [], "created": "2021-12-22T19:39:50.082Z", "modified": "2023-06-19T12:31:07.699Z"}, {"entity": "publication", "iuid": "89c87476555544e39ef6bf6717603f84", "links": {"self": {"href": "https://publications.scilifelab.se/publication/89c87476555544e39ef6bf6717603f84.json"}, "display": {"href": "https://publications.scilifelab.se/publication/89c87476555544e39ef6bf6717603f84"}}, "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.scilifelab.se/researcher/a71ee9badf4f458d9b04ebf89f5f16c9.json"}}, {"family": "Okada", "given": "Yukinori", "initials": "Y", "orcid": "0000-0002-0311-8472", "researcher": {"href": "https://publications.scilifelab.se/researcher/40b13860bfef41959c29be2de853b456.json"}}, {"family": "Moore", "given": "Kristjan H S", "initials": "KHS", "orcid": "0000-0002-9579-4362", "researcher": {"href": "https://publications.scilifelab.se/researcher/38a8eaf6f23c4dd9a90cda85b0a998b5.json"}}, {"family": "Mason", "given": "Dan", "initials": "D", "orcid": "0000-0002-0026-9216", "researcher": {"href": "https://publications.scilifelab.se/researcher/3e9d969adc0849ab83d0080430bb6758.json"}}, {"family": "Pirastu", "given": "Nicola", "initials": "N", "orcid": "0000-0002-5363-3886", "researcher": {"href": "https://publications.scilifelab.se/researcher/badf4678d37546ce993bccb3880d4f12.json"}}, {"family": "Gandin", "given": "Ilaria", "initials": "I", "orcid": "0000-0003-3196-2491", "researcher": {"href": "https://publications.scilifelab.se/researcher/ee19a08d128d40cf8bffcff35e37481d.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.scilifelab.se/researcher/29b4f65a7b6e454d92315f99841f0e70.json"}}, {"family": "Rohde", "given": "Rebecca", "initials": "R"}, {"family": "Schurmann", "given": "Claudia", "initials": "C", "orcid": "0000-0003-4158-9192", "researcher": {"href": "https://publications.scilifelab.se/researcher/357aae1711d34a0e993b10c93c73cfb4.json"}}, {"family": "Guo", "given": "Xiuqing", "initials": "X"}, {"family": "Giulianini", "given": "Franco", "initials": "F"}, {"family": "Zhang", "given": "Weihua", "initials": "W"}, {"family": "Medina-Gomez", "given": "Carolina", "initials": "C", "orcid": "0000-0001-7999-5538", "researcher": {"href": "https://publications.scilifelab.se/researcher/c1f97914d1c34f1f8190738c2d2e27b0.json"}}, {"family": "Karlsson", "given": "Robert", "initials": "R", "orcid": "0000-0002-8949-2587", "researcher": {"href": "https://publications.scilifelab.se/researcher/9df14bf33f3342408d624caa70d45b7c.json"}}, {"family": "Bao", "given": "Yanchun", "initials": "Y", "orcid": "0000-0002-6102-5098", "researcher": {"href": "https://publications.scilifelab.se/researcher/edd80af47df24a508164d6b550093563.json"}}, {"family": "Bartz", "given": "Traci M", "initials": "TM"}, {"family": "Baumbach", "given": "Clemens", "initials": "C"}, {"family": "Biino", "given": "Ginevra", "initials": "G", "orcid": "0000-0002-9936-946X", "researcher": {"href": "https://publications.scilifelab.se/researcher/791ca64b8e7c4930a8727ea9a52a5c15.json"}}, {"family": "Bixley", "given": "Matthew J", "initials": "MJ"}, {"family": "Brumat", "given": "Marco", "initials": "M", "orcid": "0000-0003-3268-039X", "researcher": {"href": "https://publications.scilifelab.se/researcher/422e5540e38047cfaa64708b0b118760.json"}}, {"family": "Chai", "given": "Jin-Fang", "initials": "JF", "orcid": "0000-0003-3770-1137", "researcher": {"href": "https://publications.scilifelab.se/researcher/7cac060e59cd405b94a588203b5955ca.json"}}, {"family": "Corre", "given": "Tanguy", "initials": "T"}, {"family": "Cousminer", "given": "Diana L", "initials": "DL"}, {"family": "Dekker", "given": "Annelot M", "initials": "AM"}, {"family": "Eccles", "given": "David A", "initials": "DA", "orcid": "0000-0003-4634-4995", "researcher": {"href": "https://publications.scilifelab.se/researcher/94670fee34be4f47ab7cf5c46a054fa4.json"}}, {"family": "van Eijk", "given": "Kristel R", "initials": "KR"}, {"family": "Fuchsberger", "given": "Christian", "initials": "C"}, {"family": "Gao", "given": "He", "initials": "H"}, {"family": "Germain", "given": "Marine", "initials": "M"}, {"family": "Gordon", "given": "Scott D", "initials": "SD", "orcid": "0000-0001-7623-328X", "researcher": {"href": "https://publications.scilifelab.se/researcher/8815739662214e75b60f71f0b1ca58a6.json"}}, {"family": "de Haan", "given": "Hugoline G", "initials": "HG"}, {"family": "Harris", "given": "Sarah E", "initials": "SE", "orcid": "0000-0002-4941-5106", "researcher": {"href": "https://publications.scilifelab.se/researcher/1bbd06383e594035ab80af3bcdb29f91.json"}}, {"family": "Hofer", "given": "Edith", "initials": "E"}, {"family": "Huerta-Chagoya", "given": "Alicia", "initials": "A"}, {"family": "Igartua", "given": "Catherine", "initials": "C"}, {"family": "Jansen", "given": "Iris E", "initials": "IE"}, {"family": "Jia", "given": "Yucheng", "initials": "Y"}, {"family": "Kacprowski", "given": "Tim", "initials": "T", "orcid": "0000-0002-5393-2413", "researcher": {"href": "https://publications.scilifelab.se/researcher/a5e640df1f184777a3066805d02a67c7.json"}}, {"family": "Karlsson", "given": "Torgny", "initials": "T", "orcid": "0000-0001-8095-6149", "researcher": {"href": "https://publications.scilifelab.se/researcher/691d6823b8e04c5abf1613513da32b08.json"}}, {"family": "Kleber", "given": "Marcus E", "initials": "ME", "orcid": "0000-0003-0663-7275", "researcher": {"href": "https://publications.scilifelab.se/researcher/a51175112cfb4721b8c9fbfdc71c4307.json"}}, {"family": "Li", "given": "Shengchao Alfred", "initials": "SA"}, {"family": "Li-Gao", "given": "Ruifang", "initials": "R"}, {"family": "Mahajan", "given": "Anubha", "initials": "A", "orcid": "0000-0001-5585-3420", "researcher": {"href": "https://publications.scilifelab.se/researcher/194be8a851164e2ea4d004dd2febc9be.json"}}, {"family": "Matsuda", "given": "Koichi", "initials": "K", "orcid": "0000-0001-7292-2686", "researcher": {"href": "https://publications.scilifelab.se/researcher/016c48eb6c8341b7b593c4b1c9e39266.json"}}, {"family": "Meidtner", "given": "Karina", "initials": "K"}, {"family": "Meng", "given": "Weihua", "initials": "W", "orcid": "0000-0001-5388-8494", "researcher": {"href": "https://publications.scilifelab.se/researcher/cdb05cc4a7554f4d8fdc57ec60b542d2.json"}}, {"family": "Montasser", "given": "May E", "initials": "ME"}, {"family": "van der Most", "given": "Peter J", "initials": "PJ", "orcid": "0000-0001-8450-3518", "researcher": {"href": "https://publications.scilifelab.se/researcher/17cd11842111490ba5460f3093a366f3.json"}}, {"family": "Munz", "given": "Matthias", "initials": "M", "orcid": "0000-0002-4728-3357", "researcher": {"href": 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"initials": "BR"}, {"family": "Shriner", "given": "Daniel", "initials": "D"}, {"family": "Skotte", "given": "Line", "initials": "L", "orcid": "0000-0002-7398-1271", "researcher": {"href": "https://publications.scilifelab.se/researcher/8078f2481d644ec8a53c28570e9af119.json"}}, {"family": "Smart", "given": "Melissa C", "initials": "MC"}, {"family": "Smith", "given": "Albert Vernon", "initials": "AV"}, {"family": "van der Spek", "given": "Ashley", "initials": "A", "orcid": "0000-0001-7136-0159", "researcher": {"href": "https://publications.scilifelab.se/researcher/85d1ebe3cc5d4ff89d89a4dbead121de.json"}}, {"family": "Spracklen", "given": "Cassandra N", "initials": "CN", "orcid": "0000-0003-3590-7182", "researcher": {"href": "https://publications.scilifelab.se/researcher/132c3af299ef430294d5d2091f135e90.json"}}, {"family": "Strawbridge", "given": "Rona J", "initials": "RJ", "orcid": "0000-0001-8506-3585", "researcher": {"href": 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"Weir", "given": "David R", "initials": "DR", "orcid": "0000-0002-1661-2402", "researcher": {"href": "https://publications.scilifelab.se/researcher/f90b7cfe829845fb8cbea9558a5c82a7.json"}}, {"family": "Whitfield", "given": "John B", "initials": "JB", "orcid": "0000-0002-1103-0876", "researcher": {"href": "https://publications.scilifelab.se/researcher/e0f61a914f9748ee9047301da8026bd7.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.scilifelab.se/researcher/b277b6387de142bbab91fad82d9eff09.json"}}, {"family": "Uitterlinden", "given": "Andr\u00e9 G", "initials": "AG", "orcid": "0000-0002-7276-3387", "researcher": {"href": "https://publications.scilifelab.se/researcher/273577b238854023a9dffe34dabc3551.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.scilifelab.se/researcher/e5b6c24c302d42828806076ded81afe1.json"}}, {"family": "Franceschini", "given": "Nora", "initials": "N"}, {"family": "Franke", "given": "Lude", "initials": "L", "orcid": "0000-0002-5159-8802", "researcher": {"href": "https://publications.scilifelab.se/researcher/ee63161f78274a53b615c05555b81a10.json"}}, {"family": "Haley", "given": "Chris S", "initials": "CS", "orcid": "0000-0002-9811-0210", "researcher": {"href": "https://publications.scilifelab.se/researcher/c4fee769cfe84186abbc285881e0529c.json"}}, {"family": "Hayward", "given": "Caroline", "initials": "C", "orcid": "0000-0002-9405-9550", "researcher": {"href": "https://publications.scilifelab.se/researcher/cd49e9ad5a024c7ca2f1aa97d9e58eba.json"}}, {"family": "Walters", "given": "Robin G", "initials": "RG", "orcid": "0000-0002-9179-0321", "researcher": {"href": "https://publications.scilifelab.se/researcher/f36254611faa44b782b76da870e89bd3.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.scilifelab.se/researcher/46050ddec8f64054b3bab46c5016aebf.json"}}, {"family": "Kubo", "given": "Michiaki", "initials": "M"}, {"family": "Wilson", "given": "James F", "initials": "JF", "orcid": "0000-0001-5751-9178", "researcher": {"href": "https://publications.scilifelab.se/researcher/b39e6e0f7210494cb4f80be0f7413b6f.json"}}], "type": "journal article", "published": "2019-10-31", "journal": {"volume": "10", "issn": "2041-1723", "issue": "1", "pages": "4957", "title": "Nat Commun", "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": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC6823371"}, {"db": "pii", "key": "10.1038/s41467-019-12283-6"}], "notes": [], "created": "2019-11-28T07:41:34.797Z", "modified": "2023-06-19T13:09:10.356Z"}, {"entity": "publication", "iuid": "a212f36b24ed408086fd6d1b5ab1eab5", "links": {"self": {"href": "https://publications.scilifelab.se/publication/a212f36b24ed408086fd6d1b5ab1eab5.json"}, "display": {"href": "https://publications.scilifelab.se/publication/a212f36b24ed408086fd6d1b5ab1eab5"}}, "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.scilifelab.se/researcher/591c3f2263ba45feb7b31364f622f87a.json"}}, {"family": "Li", "given": "Yong", "initials": "Y", "orcid": "0000-0003-2651-8791", "researcher": {"href": "https://publications.scilifelab.se/researcher/1c15132ea27d43a097e4f2672f5b00ce.json"}}, {"family": "Li", "given": "Man", "initials": "M", "orcid": "0000-0002-3839-0281", "researcher": {"href": "https://publications.scilifelab.se/researcher/42c39506589c43b783f9e00c32882045.json"}}, {"family": "Sieber", "given": "Karsten B", "initials": "KB"}, {"family": "Feitosa", "given": "Mary F", "initials": "MF", "orcid": "0000-0002-0933-2410", "researcher": {"href": "https://publications.scilifelab.se/researcher/6e386c235834430eafaaca06e312aeb8.json"}}, {"family": "Gorski", "given": "Mathias", "initials": "M"}, {"family": "Tin", "given": "Adrienne", "initials": "A", "orcid": "0000-0002-4207-5866", "researcher": {"href": "https://publications.scilifelab.se/researcher/b9c33ed3b64348be904a14698402445e.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.scilifelab.se/researcher/3e1081f5826147618bf52cd6b4d34ea3.json"}}, {"family": "Giri", "given": "Ayush", "initials": "A", "orcid": "0000-0002-7786-4670", "researcher": {"href": "https://publications.scilifelab.se/researcher/dd1ca79434f64a18b3c48a670b773888.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.scilifelab.se/researcher/2979ce9b8d824036aefead101633df34.json"}}, {"family": "Cocca", "given": "Massimiliano", "initials": "M", "orcid": "0000-0002-1127-7596", "researcher": {"href": "https://publications.scilifelab.se/researcher/86431d25a54645e3988674b5e0ef6a59.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.scilifelab.se/researcher/17cd11842111490ba5460f3093a366f3.json"}}, {"family": "Sedaghat", "given": "Sanaz", "initials": "S"}, {"family": "Yu", "given": "Zhi", "initials": "Z"}, {"family": "Akiyama", "given": "Masato", "initials": "M"}, {"family": 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"https://publications.scilifelab.se/researcher/791ca64b8e7c4930a8727ea9a52a5c15.json"}}, {"family": "Boehnke", "given": "Michael", "initials": "M", "orcid": "0000-0002-6442-7754", "researcher": {"href": "https://publications.scilifelab.se/researcher/b8cb72bdcea4492199a1b9d8ac406ac7.json"}}, {"family": "Boerwinkle", "given": "Eric", "initials": "E"}, {"family": "Boissel", "given": "Mathilde", "initials": "M", "orcid": "0000-0001-5719-8749", "researcher": {"href": "https://publications.scilifelab.se/researcher/4aba8dc8cb1f4a698e6d3d5febc96e06.json"}}, {"family": "Bottinger", "given": "Erwin P", "initials": "EP"}, {"family": "Boutin", "given": "Thibaud S", "initials": "TS", "orcid": "0000-0003-4754-1675", "researcher": {"href": "https://publications.scilifelab.se/researcher/d573e6802c4c4702839902830dbbea71.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.scilifelab.se/researcher/abe3ddd140b3478485f44119d18926b7.json"}}, {"family": "Butterworth", "given": "Adam S", "initials": "AS", "orcid": "0000-0002-6915-9015", "researcher": {"href": "https://publications.scilifelab.se/researcher/7b8c140c80d942c4b1b684876e4d6180.json"}}, {"family": "Campana", "given": "Eric", "initials": "E"}, {"family": "Campbell", "given": "Archie", "initials": "A", "orcid": "0000-0003-0198-5078", "researcher": {"href": "https://publications.scilifelab.se/researcher/89d6b9cb975246e5aa97c60035e2fdcc.json"}}, {"family": "Campbell", "given": "Harry", "initials": "H"}, {"family": "Canouil", "given": "Micka\u00ebl", "initials": "M", "orcid": "0000-0002-3396-4549", "researcher": {"href": "https://publications.scilifelab.se/researcher/d2bc5739e8e84ae08577977a71dd9b20.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.scilifelab.se/researcher/9d354d5ca83c4059b8151c8e67b99405.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.scilifelab.se/researcher/e79ea43d09544efc95351b52ac682910.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": 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"https://publications.scilifelab.se/researcher/df3f5b6e8cb7470c880cff6dc960f283.json"}}, {"family": "Heid", "given": "Iris M", "initials": "IM"}, {"family": "Scholz", "given": "Markus", "initials": "M", "orcid": "0000-0002-4059-1779", "researcher": {"href": "https://publications.scilifelab.se/researcher/53d7b0e2dcdb4361b54016cb1550c5fe.json"}}, {"family": "Teumer", "given": "Alexander", "initials": "A", "orcid": "0000-0002-8309-094X", "researcher": {"href": "https://publications.scilifelab.se/researcher/dc9c2667a55b47a6a08aea764fab0946.json"}}, {"family": "K\u00f6ttgen", "given": "Anna", "initials": "A", "orcid": "0000-0002-4671-3714", "researcher": {"href": "https://publications.scilifelab.se/researcher/fe4cb85a14da4db6bc932a8bc4148efb.json"}}, {"family": "Pattaro", "given": "Cristian", "initials": "C", "orcid": "0000-0002-4119-0109", "researcher": {"href": "https://publications.scilifelab.se/researcher/3a6a570bbec647b188c4a7a5da03caac.json"}}], "type": "journal article", "published": "2019-06-00", "journal": {"volume": "51", "issn": "1546-1718", "issue": "6", "pages": "957-972", "title": "Nat. Genet.", "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": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41588-019-0407-x"}, {"db": "pmc", "key": "PMC6698888"}, {"db": "mid", "key": "NIHMS1038587"}], "notes": [], "created": "2019-06-04T12:49:02.356Z", "modified": "2021-06-21T11:50:41.587Z"}, {"entity": "publication", "iuid": "7a40ff4fb7e14b518f09678e19c9c8e1", "links": {"self": {"href": "https://publications.scilifelab.se/publication/7a40ff4fb7e14b518f09678e19c9c8e1.json"}, "display": {"href": "https://publications.scilifelab.se/publication/7a40ff4fb7e14b518f09678e19c9c8e1"}}, "title": "Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.", "authors": [{"family": "Bentley", "given": "Amy R", "initials": 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"initials": "TN"}, {"family": "Fox", "given": "Ervin R", "initials": "ER"}, {"family": "Hayward", "given": "Caroline", "initials": "C", "orcid": "0000-0002-9405-9550", "researcher": {"href": "https://publications.scilifelab.se/researcher/cd49e9ad5a024c7ca2f1aa97d9e58eba.json"}}, {"family": "van Duijn", "given": "Cornelia M", "initials": "CM"}, {"family": "Tai", "given": "E Shyong", "initials": "ES"}, {"family": "Wong", "given": "Tien Yin", "initials": "TY"}, {"family": "Loos", "given": "Ruth J F", "initials": "RJF", "orcid": "0000-0002-8532-5087", "researcher": {"href": "https://publications.scilifelab.se/researcher/e5b6c24c302d42828806076ded81afe1.json"}}, {"family": "Franceschini", "given": "Nora", "initials": "N"}, {"family": "Rotter", "given": "Jerome I", "initials": "JI"}, {"family": "Zhu", "given": "Xiaofeng", "initials": "X"}, {"family": "Bierut", "given": "Laura J", "initials": "LJ"}, {"family": "Gauderman", "given": "W James", "initials": "WJ"}, {"family": "Rice", "given": "Kenneth", "initials": "K", "orcid": "0000-0002-3071-7278", "researcher": {"href": "https://publications.scilifelab.se/researcher/5affb61f3ef141e8a6e7c7bfd2477ae3.json"}}, {"family": "Munroe", "given": "Patricia B", "initials": "PB", "orcid": "0000-0002-4176-2947", "researcher": {"href": "https://publications.scilifelab.se/researcher/657544a7f921459f926aae5cd0e2065c.json"}}, {"family": "Morrison", "given": "Alanna C", "initials": "AC"}, {"family": "Rao", "given": "Dabeeru C", "initials": "DC"}, {"family": "Rotimi", "given": "Charles N", "initials": "CN", "orcid": "0000-0001-5759-053X", "researcher": {"href": "https://publications.scilifelab.se/researcher/7fa2951fdebf4fddaad296d49b8f3f2b.json"}}, {"family": "Cupples", "given": "L Adrienne", "initials": "LA", "orcid": "0000-0003-0273-7965", "researcher": {"href": "https://publications.scilifelab.se/researcher/b931b673086a471e9fd17728b97fb83e.json"}}], "type": "journal article", "published": "2019-04-00", "journal": {"volume": "51", "issn": "1546-1718", "issue": "4", "pages": "636-648", "title": "Nat. Genet.", "issn-l": "1061-4036"}, "abstract": "The concentrations of high- and low-density-lipoprotein cholesterol and triglycerides are influenced by smoking, but it is unknown whether genetic associations with lipids may be modified by smoking. We conducted a multi-ancestry genome-wide gene-smoking interaction study in 133,805 individuals with follow-up in an additional 253,467 individuals. Combined meta-analyses identified 13 new loci associated with lipids, some of which were detected only because association differed by smoking status. Additionally, we demonstrate the importance of including diverse populations, particularly in studies of interactions with lifestyle factors, where genomic and lifestyle differences by ancestry may contribute to novel findings.", "doi": "10.1038/s41588-019-0378-y", "pmid": "30926973", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41588-019-0378-y"}, {"db": "pmc", "key": "PMC6467258"}, {"db": "mid", "key": "NIHMS1521094"}], "notes": [], "created": "2019-04-12T14:00:38.931Z", "modified": "2021-06-21T12:08:20.267Z"}]}