{"entity": "researcher", "timestamp": "2026-08-20T20:48:36.332Z", "family": "H\u00f6glund", "given": "Julia", "initials": "J", "orcid": "0000-0001-8061-3947", "affiliations": ["Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/bca098a65a67444899762a18f654f447.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/bca098a65a67444899762a18f654f447"}}, "publications": [{"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": "640c7c9b41264e4592e88f52f9e5ef26", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/640c7c9b41264e4592e88f52f9e5ef26.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/640c7c9b41264e4592e88f52f9e5ef26"}}, "title": "Using genotyping and whole-exome sequencing data to improve genetic risk prediction in deep venous thrombosis", "authors": [{"family": "Lo Faro", "given": "Valeria", "initials": "V", "orcid": "0000-0003-4931-7327", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a3ed8bac701d4dcd9551e4cdfdfba5d7.json"}}, {"family": "Johansson", "given": "Therese", "initials": "T", "orcid": "0000-0003-1043-7065", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d4005242bc4c45f6a0899226560837f8.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", "orcid": "0000-0002-9855-7610", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8d0b9d82968f456798ee9dd0b1dfa7d9.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": "2022-04-27", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/2022.04.24.22274229", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T10:11:00.559Z", "modified": "2026-08-20T10:11:00.678Z"}, {"entity": "publication", "iuid": "fa0b5a942cac4aa9a1081b3d37781d5a", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/fa0b5a942cac4aa9a1081b3d37781d5a.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/fa0b5a942cac4aa9a1081b3d37781d5a"}}, "title": "Characterization of the human ABO genotypes and their association to common inflammatory and cardiovascular diseases in the UK Biobank.", "authors": [{"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": "Therese", "initials": "T", "orcid": "0000-0003-1043-7065", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d4005242bc4c45f6a0899226560837f8.json"}}, {"family": "Ek", "given": "Weronica E", "initials": "WE", "orcid": "0000-0003-2194-496X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8172f56f87554938a75cef7505f8603e.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": "2021-11-01", "journal": {"title": "Am. J. Hematol.", "issn": "1096-8652", "volume": "96", "issue": "11", "pages": "1350-1362", "issn-l": "0361-8609"}, "abstract": "The ABO gene contains three major alleles that encodes different antigens; A, B, and O, which determine an individual's blood group. Previous studies have primarily focused on identifying associations between ABO blood groups and diseases risk. Here, we sought to test for association between ABO genotypes (OO, OA, AA; OB, BB, and AB) and a large set of common inflammatory and cardiovascular diseases in UK Biobank as well as disease-related protein biomarkers in NSPHS. We first tested for association by conducting a likelihood ratio test, testing whether ABO contributed significantly to the risk for 24 diseases, and 438 plasma proteins. For phenotypes with FDR < 0.05, we tested for pair-wise differences between genetically determined ABO genotypes using logistic or linear regression. Our study confirmed previous findings of a strong association between ABO and cardiovascular disease, identified associations for both type 1 and type 2 diabetes, and provide additional evidence of significant differences between heterozygous and homozygous allele carriers for pulmonary embolism, deep vein thrombosis, but also for von Willebrand factor levels. Furthermore, the results indicated an additive effect between genotypes, even between the two most common A subgroups, A1 and A2. Additionally, we found that ABO contributed significantly to 39 plasma proteins, of which 23 have never been linked to the ABO locus before. These results show the need of incorporating ABO genotype information in the consultation and management of patients at risk, rather than classifying patients into blood groups.", "doi": "10.1002/ajh.26307", "pmid": "34329492", "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T06:28:27.189Z", "modified": "2026-08-20T06:28:27.447Z"}, {"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"}]}