{"entity": "researcher", "timestamp": "2026-08-20T20:43:21.480Z", "family": "Schmitz", "given": "Daniel", "initials": "D", "orcid": "0000-0003-4480-891X", "affiliations": [], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/30e1b982f81a4c11ba59043beab3e4df.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/30e1b982f81a4c11ba59043beab3e4df"}}, "publications": [{"entity": "publication", "iuid": "d81ca7a5afc947f893085bcf904db3c3", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/d81ca7a5afc947f893085bcf904db3c3.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/d81ca7a5afc947f893085bcf904db3c3"}}, "title": "Time-resolved Mendelian randomization detects substantial variation in the detrimental effect of obesity throughout life.", "authors": [{"family": "Karlsson", "given": "Torgny", "initials": "T", "orcid": "0000-0001-8095-6149", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c8b2bb8ecf4545ad946ae2203c870282.json"}}, {"family": "Hadizadeh", "given": "Fatemeh", "initials": "F", "orcid": "0000-0002-9855-7610", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8d0b9d82968f456798ee9dd0b1dfa7d9.json"}}, {"family": "Rask-Andersen", "given": "Mathias", "initials": "M", "orcid": "0000-0002-8008-4659", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f4efeec022fc40828f71781ecad2df00.json"}}, {"family": "Schmitz", "given": "Daniel", "initials": "D", "orcid": "0000-0003-4480-891X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/30e1b982f81a4c11ba59043beab3e4df.json"}}, {"family": "Johansson", "given": "\u00c5sa", "initials": "\u00c5", "orcid": "0000-0002-2915-4498", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a0bac3e1e64949fcbac4b4d839e1144d.json"}}], "type": "journal article", "published": "2025-10-24", "journal": {"title": "Sci Adv", "issn": "2375-2548", "volume": "11", "issue": "43", "pages": "eadv0926", "issn-l": "2375-2548"}, "abstract": "The global burden of disease attributable to obesity continues to rise. The disease incidence is substantially higher in elderly populations, but how obesity affects disease risk across a lifetime is largely unknown. To quantify the long-term temporal impact of obesity, access to large-scale longitudinal cohorts spanning many decades would typically be required. However, these longitudinal studies are rare and may be heavily biased by the presence of unaccountable confounding. Here, we develop a method-time-resolved Mendelian randomization-to estimate the cumulative effect of body mass index on disease risk at different ages. Using the UK Biobank, we find strong age-varying patterns for type 2 diabetes mellitus, coronary artery disease, and atrial fibrillation, as well as for osteoarthritis. We demonstrate that some of the most notable temporal characteristics are sex specific, while other features are shared between sexes. Analyses suggest that these features can be manifestations of primary prevention strategies.", "doi": "10.1126/sciadv.adv0926", "pmid": "41134883", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC12551696"}], "notes": [], "created": "2026-08-20T11:59:07.462Z", "modified": "2026-08-20T11:59:07.682Z"}, {"entity": "publication", "iuid": "9c28b188cadf4552899402edb0a046ca", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/9c28b188cadf4552899402edb0a046ca.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/9c28b188cadf4552899402edb0a046ca"}}, "title": "Investigating the Effect of Estradiol Levels on the Risk of Breast, Endometrial, and Ovarian Cancer.", "authors": [{"family": "Johansson", "given": "\u00c5sa", "initials": "\u00c5", "orcid": "0000-0002-2915-4498", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a0bac3e1e64949fcbac4b4d839e1144d.json"}}, {"family": "Schmitz", "given": "Daniel", "initials": "D", "orcid": "0000-0003-4480-891X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/30e1b982f81a4c11ba59043beab3e4df.json"}}, {"family": "H\u00f6glund", "given": "Julia", "initials": "J", "orcid": "0000-0001-8061-3947", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bca098a65a67444899762a18f654f447.json"}}, {"family": "Hadizadeh", "given": "Fatemeh", "initials": "F"}, {"family": "Karlsson", "given": "Torgny", "initials": "T", "orcid": "0000-0001-8095-6149", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c8b2bb8ecf4545ad946ae2203c870282.json"}}, {"family": "Ek", "given": "Weronica E", "initials": "WE", "orcid": "0000-0003-2194-496X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8172f56f87554938a75cef7505f8603e.json"}}], "type": "journal article", "published": "2022-08-01", "journal": {"title": "J Endocr Soc", "issn": "2472-1972", "volume": "6", "issue": "8", "pages": "bvac100", "issn-l": null}, "abstract": "High levels of estrogen are associated with increased risk of breast and endometrial cancer and have been suggested to also play a role in the development of ovarian cancer. Cancerogenic effects of estradiol, the most prominent form of estrogen, have been highlighted as a side effect of estrogen-only menopausal hormone therapy. However, whether high levels of endogenous estrogens, produced within the body, promote cancer development, has not been fully established.\n\nWe aimed to examine causal effects of estradiol on breast, endometrial, and ovarian cancer.\n\nHere we performed a two-sample Mendelian randomization (MR) to estimate the effect of endogenous estradiol on the risk of developing breast, endometrial, and ovarian cancer, using the UK Biobank as well as 3 independent cancer cohorts.\n\nUsing 3 independent instrumental variables, we showed that higher estradiol levels significantly increase the risk for ovarian cancer (OR = 3.18 [95% CI, 1.47-6.87], P = 0.003). We also identified a nominally significant effect for ER-positive breast cancer (OR = 2.16 [95% CI, 1.09-4.26], P = 0.027). However, we could not establish a clear link to the risk of endometrial cancer (OR = 1.93 [95% CI, 0.77-4.80], P = 0.160).\n\nOur results suggest that high estradiol levels promote the development of ovarian and ER-positive breast cancer.", "doi": "10.1210/jendso/bvac100", "pmid": "35822202", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC9265484"}, {"db": "pii", "key": "bvac100"}], "notes": [], "created": "2026-08-20T12:38:02.155Z", "modified": "2026-08-20T12:38:02.276Z"}, {"entity": "publication", "iuid": "2d0790900128408fac3af8b58ea6cb5d", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/2d0790900128408fac3af8b58ea6cb5d.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/2d0790900128408fac3af8b58ea6cb5d"}}, "title": "Genome-wide Association Study of Estradiol Levels and the Causal Effect of Estradiol on Bone Mineral Density.", "authors": [{"family": "Schmitz", "given": "Daniel", "initials": "D", "orcid": "0000-0003-4480-891X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/30e1b982f81a4c11ba59043beab3e4df.json"}}, {"family": "Ek", "given": "Weronica E", "initials": "WE"}, {"family": "Berggren", "given": "Elin", "initials": "E"}, {"family": "H\u00f6glund", "given": "Julia", "initials": "J", "orcid": "0000-0001-8061-3947", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bca098a65a67444899762a18f654f447.json"}}, {"family": "Karlsson", "given": "Torgny", "initials": "T", "orcid": "0000-0001-8095-6149", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c8b2bb8ecf4545ad946ae2203c870282.json"}}, {"family": "Johansson", "given": "\u00c5sa", "initials": "\u00c5", "orcid": "0000-0002-2915-4498", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a0bac3e1e64949fcbac4b4d839e1144d.json"}}], "type": "journal article", "published": "2021-10-21", "journal": {"title": "J. Clin. Endocrinol. Metab.", "issn": "1945-7197", "volume": "106", "issue": "11", "pages": "e4471-e4486", "issn-l": "0021-972X"}, "abstract": "Estradiol is the primary female sex hormone and plays an important role for skeletal health in both sexes. Several enzymes are involved in estradiol metabolism, but few genome-wide association studies (GWAS) have been performed to characterize the genetic contribution to variation in estrogen levels.\n\nIdentify genetic loci affecting estradiol levels and estimate causal effect of estradiol on bone mineral density (BMD).\n\nWe performed GWAS for estradiol in males (n = 147 690) and females (n = 163 985) from UK Biobank. Estradiol was analyzed as a binary phenotype above/below detection limit (175 pmol/L). We further estimated the causal effect of estradiol on BMD using Mendelian randomization.\n\nWe identified 14 independent loci associated (P < 5 \u00d7 10-8) with estradiol levels in males, of which 1 (CYP3A7) was genome-wide and 7 nominally (P < 0.05) significant in females. In addition, 1 female-specific locus was identified. Most loci contain functionally relevant genes that have not been discussed in relation to estradiol levels in previous GWAS (eg, SRD5A2, which encodes a steroid 5-alpha reductase that is involved in processing androgens, and UGT3A1 and UGT2B7, which encode enzymes likely to be involved in estradiol elimination). The allele that tags the O blood group at the ABO locus was associated with higher estradiol levels. We identified a causal effect of high estradiol levels on increased BMD in both males (P = 1.58 \u00d7 10-11) and females (P = 7.48 \u00d7 10-6).\n\nOur findings further support the importance of the body's own estrogen to maintain skeletal health in males and in females.", "doi": "10.1210/clinem/dgab507", "pmid": "34255042", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC8530739"}, {"db": "pii", "key": "6320117"}], "notes": [], "created": "2026-08-20T12:37:58.025Z", "modified": "2026-08-20T12:37:58.146Z"}, {"entity": "publication", "iuid": "ccde0047e11040639ea48759cfbf0c9c", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/ccde0047e11040639ea48759cfbf0c9c.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/ccde0047e11040639ea48759cfbf0c9c"}}, "title": "Genome-Wide Association Study of Estradiol Levels, and the Causal Effect of Estradiol on Bone Mineral Density", "authors": [{"family": "Schmitz", "given": "Daniel", "initials": "D", "orcid": "0000-0003-4480-891X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/30e1b982f81a4c11ba59043beab3e4df.json"}}, {"family": "Ek", "given": "Weronica E", "initials": "WE", "orcid": "0000-0003-2194-496X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8172f56f87554938a75cef7505f8603e.json"}}, {"family": "Berggren", "given": "Elin", "initials": "E"}, {"family": "H\u00f6glund", "given": "Julia", "initials": "J", "orcid": "0000-0001-8061-3947", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bca098a65a67444899762a18f654f447.json"}}, {"family": "Karlsson", "given": "Torgny", "initials": "T", "orcid": "0000-0001-8095-6149", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c8b2bb8ecf4545ad946ae2203c870282.json"}}, {"family": "Johansson", "given": "\u00c5sa", "initials": "\u00c5", "orcid": "0000-0002-2915-4498", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a0bac3e1e64949fcbac4b4d839e1144d.json"}}], "type": "posted-content", "published": "2021-07-05", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/2021.07.01.21259826", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T10:05:23.953Z", "modified": "2026-08-20T10:05:24.068Z"}, {"entity": "publication", "iuid": "6b03af917620450ea7c6627f89fa7db2", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/6b03af917620450ea7c6627f89fa7db2.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/6b03af917620450ea7c6627f89fa7db2"}}, "title": "The contribution of rare whole genome sequencing variants to plasma protein levels and to the missing heritability", "authors": [{"family": "Kierczak", "given": "Marcin", "initials": "M", "orcid": "0000-0003-2629-5655", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/da6834c3cedf4ea1b20b659316b45eb2.json"}}, {"family": "Rafati", "given": "Nima", "initials": "N"}, {"family": "H\u00f6glund", "given": "Julia", "initials": "J", "orcid": "0000-0001-8061-3947", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bca098a65a67444899762a18f654f447.json"}}, {"family": "Gourle", "given": "Hadrien", "initials": "H", "orcid": "0000-0001-9807-1082", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d5485a48dfde4e53b14d39c54f2b2483.json"}}, {"family": "Schmitz", "given": "Daniel", "initials": "D", "orcid": "0000-0003-4480-891X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/30e1b982f81a4c11ba59043beab3e4df.json"}}, {"family": "Ek", "given": "Weronica", "initials": "W", "orcid": "0000-0003-2194-496X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8172f56f87554938a75cef7505f8603e.json"}}, {"family": "Enroth", "given": "Stefan", "initials": "S", "orcid": "0000-0002-5056-9137", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ae9be8ef3b1145239a4e0231e2a148cd.json"}}, {"family": "Ekman", "given": "Diana", "initials": "D"}, {"family": "Nystedt", "given": "Bj\u00f6rn", "initials": "B", "orcid": "0000-0001-7809-7664", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/33ba67b99d2b477d9588d40e8cc0fed2.json"}}, {"family": "Karlsson", "given": "Torgny", "initials": "T", "orcid": "0000-0001-8095-6149", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c8b2bb8ecf4545ad946ae2203c870282.json"}}, {"family": "Johansson", "given": "\u00c5sa", "initials": "\u00c5", "orcid": "0000-0002-2915-4498", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a0bac3e1e64949fcbac4b4d839e1144d.json"}}], "type": "posted-content", "published": "2021-06-21", "journal": {"issn-l": null}, "abstract": null, "doi": "10.21203/rs.3.rs-625433/v1", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T12:59:43.170Z", "modified": "2026-08-20T12:59:43.262Z"}]}