{"entity": "researcher", "timestamp": "2026-10-13T18:52:39.418Z", "family": "Dimitriou", "given": "Marios", "initials": "M", "orcid": "0000-0001-8362-2099", "affiliations": ["Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.", "Pfizer Worldwide Research Development and Medical, Stockholm, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/96daf7ad302d49ca938bb2d6043dda28.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/96daf7ad302d49ca938bb2d6043dda28"}}, "publications": [{"entity": "publication", "iuid": "23a35c74f08a4b71b7f22951612cf133", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/23a35c74f08a4b71b7f22951612cf133.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/23a35c74f08a4b71b7f22951612cf133"}}, "title": "Patient-Specific Measurable Residual Disease Markers Predict Outcome in Patients With Myelodysplastic Syndrome and Related Diseases After Hematopoietic Stem-Cell Transplantation.", "authors": [{"family": "Tobiasson", "given": "Magnus", "initials": "M", "orcid": "0000-0002-3633-5852", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ee9bc9b141be467093fd27454e8dcc6f.json"}}, {"family": "Pandzic", "given": "Tatjana", "initials": "T"}, {"family": "Illman", "given": "Johanna", "initials": "J"}, {"family": "Nilsson", "given": "Lars", "initials": "L"}, {"family": "Westr\u00f6m", "given": "Simone", "initials": "S"}, {"family": "Ejerblad", "given": "Elisabeth", "initials": "E"}, {"family": "Olesen", "given": "Gitte", "initials": "G"}, {"family": "Bj\u00f6rklund", "given": "Andreas", "initials": "A"}, {"family": "Olsnes Kittang", "given": "Astrid", "initials": "A"}, {"family": "Werlenius", "given": "Olle", "initials": "O"}, {"family": "Lorentz", "given": "Fryderyk", "initials": "F"}, {"family": "Rasmussen", "given": "Bengt", "initials": "B", "orcid": "0000-0003-0972-9853", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5642eb308e1b4da8abf6812440ff5c7f.json"}}, {"family": "Cammenga", "given": "J\u00f6rg", "initials": "J"}, {"family": "Weber", "given": "Duruta", "initials": "D", "orcid": "0000-0002-0442-7023", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4ba0db6233864193bec20cfc7ca887fb.json"}}, {"family": "Lindholm", "given": "Carolin", "initials": "C", "orcid": "0000-0002-0855-7095", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/669f397d0ce1416aaf04f4054fd90732.json"}}, {"family": "Wiggh", "given": "Joel", "initials": "J"}, {"family": "Dimitriou", "given": "Marios", "initials": "M", "orcid": "0000-0001-8362-2099", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/96daf7ad302d49ca938bb2d6043dda28.json"}}, {"family": "Moen", "given": "Ann Elin", "initials": "AE"}, {"family": "Yip Lundstr\u00f6m", "given": "Laimei", "initials": "L", "orcid": "0009-0004-3037-2750", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cbded003296546ba910cf1759720a43a.json"}}, {"family": "von Bahr", "given": "Lena", "initials": "L", "orcid": "0009-0003-5026-8195", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4e70bda0952d4e138ab655618230330a.json"}}, {"family": "Baltzer-Sollander", "given": "Karin", "initials": "K", "orcid": "0009-0002-8858-6271", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d9811b796bd94729871b3534b24bba50.json"}}, {"family": "J\u00e4dersten", "given": "Martin", "initials": "M", "orcid": "0000-0001-5217-3235", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4eec9a58630e4c6eb3596e184f8918d1.json"}}, {"family": "Kyt\u00f6l\u00e4", "given": "Soili", "initials": "S"}, {"family": "Walldin", "given": "Gunilla", "initials": "G", "orcid": "0009-0005-6663-6540", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fd99aa0b4c5c47b9bf0a99bfd8bae61b.json"}}, {"family": "Ljungman", "given": "Per", "initials": "P", "orcid": "0000-0002-8281-3245", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/dca9a19fd8ec477baf2109f191599c6b.json"}}, {"family": "Groenbaek", "given": "Kirsten", "initials": "K"}, {"family": "Mielke", "given": "Stephan", "initials": "S", "orcid": "0000-0002-8325-9215", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e252f7353163408cad14e163349e0fa4.json"}}, {"family": "Jacobsen", "given": "Sten Eirik W", "initials": "SEW", "orcid": "0000-0002-1362-3659", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7a57175f43784cc2b545be052d6790c8.json"}}, {"family": "Ebeling", "given": "Freja", "initials": "F", "orcid": "0000-0002-7921-089X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/69dec8dc35324ea8a0ee09bbc5cfc225.json"}}, {"family": "Cavelier", "given": "Lucia", "initials": "L"}, {"family": "Smidstrup Friis", "given": "Lone", "initials": "L"}, {"family": "Dybedal", "given": "Ingunn", "initials": "I"}, {"family": "Hellstr\u00f6m-Lindberg", "given": "Eva", "initials": "E", "orcid": "0000-0002-7839-3743", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/66eecd3e3886496cb7f7dcaefa5e6a36.json"}}], "type": "observational study", "published": "2024-04-20", "journal": {"title": "J Clin Oncol", "issn": "1527-7755", "volume": "42", "issue": "12", "pages": "1378-1390", "issn-l": "0732-183X"}, "abstract": "Clinical relapse is the major threat for patients with myelodysplastic syndrome (MDS) undergoing hematopoietic stem-cell transplantation (HSCT). Early detection of measurable residual disease (MRD) would enable preemptive treatment and potentially reduced relapse risk.\n\nPatients with MDS planned for HSCT were enrolled in a prospective, observational study evaluating the association between MRD and clinical outcome. We collected bone marrow (BM) and peripheral blood samples until relapse, death, or end of study 24 months after HSCT. Patient-specific mutations were identified with targeted next-generation sequencing (NGS) panel and traced using droplet digital polymerase chain reaction (ddPCR).\n\nOf 266 included patients, estimated relapse-free survival (RFS) and overall survival (OS) rates 3 years after HSCT were 59% and 64%, respectively. MRD results were available for 221 patients. Relapse was preceded by positive BM MRD in 42/44 relapses with complete MRD data, by a median of 71 (23-283) days. Of 137 patients in continuous complete remission, 93 were consistently MRD-negative, 39 reverted from MRD+ to MRD-, and five were MRD+ at last sampling. Estimated 1 year-RFS after first positive MRD was 49%, 39%, and 30%, using cutoff levels of 0.1%, 0.3%, and 0.5%, respectively. In a multivariate Cox model, MRD (hazard ratio [HR], 7.99), WHO subgroup AML (HR, 4.87), TP53 multi-hit (HR, 2.38), NRAS (HR, 3.55), and acute GVHD grade III-IV (HR, 4.13) were associated with shorter RFS. MRD+ was also independently associated with shorter OS (HR, 2.65). In a subgroup analysis of 100 MRD+ patients, presence of chronic GVHD was associated with longer RFS (HR, 0.32).\n\nAssessment of individualized MRD using NGS + ddPCR is feasible and can be used for early detection of relapse. Positive MRD is associated with shorter RFS and OS (ClinicalTrials.gov identifier: NCT02872662).", "doi": "10.1200/JCO.23.01159", "pmid": "38232336", "labels": [], "xrefs": [{"db": "ClinicalTrials.gov", "key": "NCT02872662"}], "notes": [], "created": "2026-08-20T12:37:52.901Z", "modified": "2026-09-23T09:03:10.001Z"}, {"entity": "publication", "iuid": "3df1c3737c494f14b83233ef702c8c42", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/3df1c3737c494f14b83233ef702c8c42.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/3df1c3737c494f14b83233ef702c8c42"}}, "title": "Evaluation of circulating plasma proteins in breast cancer using Mendelian randomisation.", "authors": [{"family": "M\u00e4larstig", "given": "Anders", "initials": "A", "orcid": "0000-0003-2608-1358", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/32b012456e6f490e99b12f5fb1216ce8.json"}}, {"family": "Grassmann", "given": "Felix", "initials": "F"}, {"family": "Dahl", "given": "Leo", "initials": "L", "orcid": "0000-0003-1492-3052", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8f357e135f9e43999d78db11ae5f0f40.json"}}, {"family": "Dimitriou", "given": "Marios", "initials": "M", "orcid": "0000-0001-8362-2099", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/96daf7ad302d49ca938bb2d6043dda28.json"}}, {"family": "McLeod", "given": "Dianna", "initials": "D"}, {"family": "Gabrielson", "given": "Marike", "initials": "M"}, {"family": "Smith-Byrne", "given": "Karl", "initials": "K"}, {"family": "Thomas", "given": "Cecilia E", "initials": "CE", "orcid": "0000-0001-6201-6380", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c2e25790f4c14deabd43b76ff5a5bef4.json"}}, {"family": "Huang", "given": "Tzu-Hsuan", "initials": "TH", "orcid": "0000-0003-0650-582X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/99ea5762b25c4098a3766052d05b197e.json"}}, {"family": "Forsberg", "given": "Simon K G", "initials": "SKG", "orcid": "0000-0002-7451-9222", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/50011be96c194846b03bf4c41d01bffc.json"}}, {"family": "Eriksson", "given": "Per", "initials": "P", "orcid": "0000-0001-7633-403X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/74ec1f961c3b4fc0b49de1a3664feb34.json"}}, {"family": "Ulfstedt", "given": "Mikael", "initials": "M"}, {"family": "Johansson", "given": "Mattias", "initials": "M"}, {"family": "Sokolov", "given": "Aleksandr V", "initials": "AV"}, {"family": "Schi\u00f6th", "given": "Helgi B", "initials": "HB"}, {"family": "Hall", "given": "Per", "initials": "P"}, {"family": "Schwenk", "given": "Jochen M", "initials": "JM", "orcid": "0000-0001-8141-8449", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/022e140799b6466ea123319c3d70c76e.json"}}, {"family": "Czene", "given": "Kamila", "initials": "K"}, {"family": "Hedman", "given": "\u00c5sa K", "initials": "\u00c5K", "orcid": "0000-0001-5413-204X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cb844167d63c4be6916c84634f383f33.json"}}], "type": "journal article", "published": "2023-11-24", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "14", "issue": "1", "pages": "7680", "issn-l": "2041-1723"}, "abstract": "Biomarkers for early detection of breast cancer may complement population screening approaches to enable earlier and more precise treatment. The blood proteome is an important source for biomarker discovery but so far, few proteins have been identified with breast cancer risk. Here, we measure 2929 unique proteins in plasma from 598 women selected from the Karolinska Mammography Project to explore the association between protein levels, clinical characteristics, and gene variants, and to identify proteins with a causal role in breast cancer. We present 812 cis-acting protein quantitative trait loci for 737 proteins which are used as instruments in Mendelian randomisation analyses of breast cancer risk. Of those, we present five proteins (CD160, DNPH1, LAYN, LRRC37A2 and TLR1) that show a potential causal role in breast cancer risk with confirmatory results in independent cohorts. Our study suggests that these proteins should be further explored as biomarkers and potential drug targets in breast cancer.", "doi": "10.1038/s41467-023-43485-8", "pmid": "37996402", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC10667261"}, {"db": "pii", "key": "10.1038/s41467-023-43485-8"}], "notes": [], "created": "2026-09-23T08:45:31.246Z", "modified": "2026-09-23T08:45:31.379Z"}, {"entity": "publication", "iuid": "400000bfbf7c4bdaba4bed0b3ea18b30", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/400000bfbf7c4bdaba4bed0b3ea18b30.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/400000bfbf7c4bdaba4bed0b3ea18b30"}}, "title": "Integrated Genomic and Transcriptomic Analysis Improves Disease Classification and Risk Stratification of MDS with Ring Sideroblasts.", "authors": [{"family": "Todisco", "given": "Gabriele", "initials": "G", "orcid": "0000-0001-6583-3829", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/769f70d382bc46cfbfffa0b5cd16710f.json"}}, {"family": "Creignou", "given": "Maria", "initials": "M", "orcid": "0000-0002-7629-0871", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7a6d401562a24e75922151cf45dba249.json"}}, {"family": "Bernard", "given": "Elsa", "initials": "E", "orcid": "0000-0002-2057-7187", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cb3c2a92df6647f6ab8d6376d341cb35.json"}}, {"family": "Bj\u00f6rklund", "given": "Ann-Charlotte", "initials": "AC", "orcid": "0009-0008-3745-503X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2646432d278e40b79a75cbb5222ceb39.json"}}, {"family": "Moura", "given": "Pedro Luis", "initials": "PL", "orcid": "0000-0002-0493-5394", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ac418bab887f4153b20d77dfc455b3a7.json"}}, {"family": "Tesi", "given": "Bianca", "initials": "B", "orcid": "0000-0002-8253-2507", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d54bd9449574d829a096eb7b0bbe826.json"}}, {"family": "Mortera-Blanco", "given": "Teresa", "initials": "T", "orcid": "0000-0002-8399-1430", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2afa2c9bceb44bd7aa4810e7846b5607.json"}}, {"family": "Sander", "given": "Birgitta", "initials": "B", "orcid": "0000-0002-1214-1340", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7ded64c528454282832f32deef610665.json"}}, {"family": "Jansson", "given": "Monika", "initials": "M", "orcid": "0000-0002-9257-0873", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5cd3ff14ea7f4a98967e740f6cafd3bd.json"}}, {"family": "Walldin", "given": "Gunilla", "initials": "G", "orcid": "0009-0005-6663-6540", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fd99aa0b4c5c47b9bf0a99bfd8bae61b.json"}}, {"family": "Barbosa", "given": "Indira", "initials": "I", "orcid": "0009-0004-1171-2932", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2c92d74875a9433fafc001f47e3f48c3.json"}}, {"family": "Reinsbach", "given": "Susanne E", "initials": "SE", "orcid": "0000-0003-0509-2488", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f35ebeb793254320982f857ec99fe02a.json"}}, {"family": "Hofman", "given": "Isabel Juliana", "initials": "IJ", "orcid": "0000-0001-7825-843X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5efeab3ee954498aa6723a21fbcb953c.json"}}, {"family": "Nilsson", "given": "Christer", "initials": "C", "orcid": "0000-0003-0695-0050", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/48610efff08f4fbb8af4b4889390dd9e.json"}}, {"family": "Yoshizato", "given": "Tetsuichi", "initials": "T", "orcid": "0000-0003-4283-2983", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/32797bad8e1645a881f6b010e604e596.json"}}, {"family": "Dimitriou", "given": "Marios", "initials": "M", "orcid": "0000-0001-8362-2099", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/96daf7ad302d49ca938bb2d6043dda28.json"}}, {"family": "Chang", "given": "David", "initials": "D", "orcid": "0009-0005-2568-8467", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1a047756c2c74ba89e8cb859b2c4f8ed.json"}}, {"family": "Olafsdottir", "given": "Svannildur", "initials": "S", "orcid": "0009-0002-6357-7029", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/665615b92a1543408ecf123002876bc3.json"}}, {"family": "Venckute Larsson", "given": "Sigita", "initials": "S", "orcid": "0009-0005-6187-0231", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/886af528c1f34b2caf36e5418d6649a7.json"}}, {"family": "Tobiasson", "given": "Magnus", "initials": "M", "orcid": "0000-0002-3633-5852", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ee9bc9b141be467093fd27454e8dcc6f.json"}}, {"family": "Malcovati", "given": "Luca", "initials": "L", "orcid": "0000-0002-1460-1611", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2cb5612d32b148afa4181aa99415de4b.json"}}, {"family": "Woll", "given": "Petter", "initials": "P", "orcid": "0000-0002-2340-2526", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/dc8b31b0c69144b89e595fbcb4343717.json"}}, {"family": "Jacobsen", "given": "Sten Eirik W", "initials": "SEW", "orcid": "0000-0002-1362-3659", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7a57175f43784cc2b545be052d6790c8.json"}}, {"family": "Papaemmanuil", "given": "Elli", "initials": "E", "orcid": "0000-0003-1709-8983", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6ea61c4aa9324a398fffe747c0e7824d.json"}}, {"family": "Hellstr\u00f6m-Lindberg", "given": "Eva", "initials": "E", "orcid": "0000-0002-7839-3743", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/66eecd3e3886496cb7f7dcaefa5e6a36.json"}}], "type": "journal article", "published": "2023-10-13", "journal": {"title": "Clin. Cancer Res.", "issn": "1557-3265", "volume": "29", "issue": "20", "pages": "4256-4267", "issn-l": "1078-0432"}, "abstract": "Ring sideroblasts (RS) define the low-risk myelodysplastic neoplasm (MDS) subgroup with RS but may also reflect erythroid dysplasia in higher risk myeloid neoplasm. The benign behavior of MDS with RS (MDSRS+) is limited to SF3B1-mutated cases without additional high-risk genetic events, but one third of MDSRS+ carry no SF3B1 mutation, suggesting that different molecular mechanisms may underlie RS formation. We integrated genomic and transcriptomic analyses to evaluate whether transcriptome profiles may improve current risk stratification.\n\nWe studied a prospective cohort of MDSRS+ patients irrespective of World Health Organization (WHO) class with regard to somatic mutations, copy-number alterations, and bone marrow CD34+ cell transcriptomes to assess whether transcriptome profiles add to prognostication and provide input on disease classification.\n\nSF3B1, SRSF2, or TP53 multihit mutations were found in 89% of MDSRS+ cases, and each mutation category was associated with distinct clinical outcome, gene expression, and alternative splicing profiles. Unsupervised clustering analysis identified three clusters with distinct hemopoietic stem and progenitor (HSPC) composition, which only partially overlapped with mutation groups. IPSS-M and the transcriptome-defined proportion of megakaryocyte/erythroid progenitors (MEP) independently predicted survival in multivariable analysis.\n\nThese results provide essential input on the molecular basis of SF3B1-unmutated MDSRS+ and propose HSPC quantification as a prognostic marker in myeloid neoplasms with RS.", "doi": "10.1158/1078-0432.CCR-23-0538", "pmid": "37498312", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC10570683"}, {"db": "pii", "key": "728030"}], "notes": [], "created": "2026-10-01T08:26:13.957Z", "modified": "2026-10-01T08:26:14.373Z"}, {"entity": "publication", "iuid": "1b5d715209194dcc8a1a8927e62bc3bb", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/1b5d715209194dcc8a1a8927e62bc3bb.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/1b5d715209194dcc8a1a8927e62bc3bb"}}, "title": "Evaluation of Circulating Plasma Proteins in Breast Cancer: A Mendelian Randomization Analysis", "authors": [{"family": "Malarstig", "given": "Anders", "initials": "A", "orcid": "0000-0003-2608-1358", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/32b012456e6f490e99b12f5fb1216ce8.json"}}, {"family": "Grassman", "given": "Felix", "initials": "F"}, {"family": "Dahl", "given": "Leo", "initials": "L", "orcid": "0000-0003-1492-3052", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8f357e135f9e43999d78db11ae5f0f40.json"}}, {"family": "Dimitriou", "given": "Marios", "initials": "M", "orcid": "0000-0001-8362-2099", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/96daf7ad302d49ca938bb2d6043dda28.json"}}, {"family": "Mcleod", "given": "Dianna", "initials": "D"}, {"family": "Gabrielson", "given": "Marike", "initials": "M"}, {"family": "Smith-Byrne", "given": "Karl", "initials": "K"}, {"family": "Thomas", "given": "Cecilia", "initials": "C", "orcid": "0000-0001-6201-6380", "researcher": 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"given": "Ingrid B", "initials": "IB"}, {"family": "Kutalik", "given": "Zolt\u00e1n", "initials": "Z", "orcid": "0000-0001-8285-7523", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e566b994d65a4365b224cd4ae369827a.json"}}, {"family": "Loos", "given": "Ruth J F", "initials": "RJ", "orcid": "0000-0002-8532-5087", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/179eb6511eba4d33b633599c5652e344.json"}}], "type": "journal article", "published": "2015-10-00", "journal": {"title": "PLoS Genet", "issn": "1553-7404", "volume": "11", "issue": "10", "pages": "e1005378", "issn-l": "1553-7390"}, "abstract": "Genome-wide association studies (GWAS) have identified more than 100 genetic variants contributing to BMI, a measure of body size, or waist-to-hip ratio (adjusted for BMI, WHRadjBMI), a measure of body shape. Body size and shape change as people grow older and these changes differ substantially between men and women. To systematically screen for age- and/or sex-specific effects of genetic variants on BMI and WHRadjBMI, we performed meta-analyses of 114 studies (up to 320,485 individuals of European descent) with genome-wide chip and/or Metabochip data by the Genetic Investigation of Anthropometric Traits (GIANT) Consortium. Each study tested the association of up to ~2.8M SNPs with BMI and WHRadjBMI in four strata (men \u226450y, men >50y, women \u226450y, women >50y) and summary statistics were combined in stratum-specific meta-analyses. We then screened for variants that showed age-specific effects (G x AGE), sex-specific effects (G x SEX) or age-specific effects that differed between men and women (G x AGE x SEX). For BMI, we identified 15 loci (11 previously established for main effects, four novel) that showed significant (FDR<5%) age-specific effects, of which 11 had larger effects in younger (<50y) than in older adults (\u226550y). No sex-dependent effects were identified for BMI. For WHRadjBMI, we identified 44 loci (27 previously established for main effects, 17 novel) with sex-specific effects, of which 28 showed larger effects in women than in men, five showed larger effects in men than in women, and 11 showed opposite effects between sexes. No age-dependent effects were identified for WHRadjBMI. This is the first genome-wide interaction meta-analysis to report convincing evidence of age-dependent genetic effects on BMI. In addition, we confirm the sex-specificity of genetic effects on WHRadjBMI. These results may provide further insights into the biology that underlies weight change with age or the sexually dimorphism of body shape.", "doi": "10.1371/journal.pgen.1005378", "pmid": "26426971", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC4591371"}, {"db": "pii", "key": "PGENETICS-D-14-03117"}], "notes": [], "created": "2018-12-05T08:45:37.291Z", "modified": "2026-08-21T12:45:04.560Z"}]}