{"entity": "researcher", "timestamp": "2026-08-20T20:47:12.585Z", "family": "Karlsson", "given": "Torgny", "initials": "T", "orcid": "0000-0001-8095-6149", "affiliations": ["Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/c8b2bb8ecf4545ad946ae2203c870282.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/c8b2bb8ecf4545ad946ae2203c870282"}}, "publications": [{"entity": "publication", "iuid": "ed511d19a3f441d1a367517382c34730", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/ed511d19a3f441d1a367517382c34730.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/ed511d19a3f441d1a367517382c34730"}}, "title": "Breast cancer risk during oral contraceptive use in women with high polygenic risk.", "authors": [{"family": "Chatsatourian", "given": "Christina", "initials": "C"}, {"family": "Lo Faro", "given": "Valeria", "initials": "V", "orcid": "0000-0003-4931-7327", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a3ed8bac701d4dcd9551e4cdfdfba5d7.json"}}, {"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": "Johansson", "given": "\u00c5sa", "initials": "\u00c5", "orcid": "0000-0002-2915-4498", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a0bac3e1e64949fcbac4b4d839e1144d.json"}}], "type": "journal article", "published": "2025-12-01", "journal": {"title": "Breast Cancer Res.", "issn": "1465-542X", "volume": "27", "issue": "1", "pages": "215", "issn-l": "1465-5411"}, "abstract": "BACKGROUND: Oral contraceptive (OC) use is widespread globally. Despite their significant benefits, concerns persist about a potential rise in breast cancer risk linked to their use. Genetic predisposition also influences breast cancer risk; however, its interaction with OC use remains inconclusive. This study aims to explore the association between OC use and breast cancer risk in women with varying genetic predispositions to breast cancer, as measured by polygenic risk scores (PRS). METHOD: A total of 257,185 white female participants from the UK Biobank were included. Time-varying Cox regression was used to estimate hazard ratios (HRs) with 95% confidence intervals (CIs) to examine the association between OC and invasive breast cancer events, stratified by PRS. Age was used as the primary time scale, and analyses were adjusted for year of birth, Townsend Deprivation Index, body mass index, smoking status, age at menarche, menopausal status, family history of breast cancer, parity, hormone replacement therapy use, history of hysterectomy, as well as genetic principal components. RESULTS: Current use of OC was associated with an increased risk of breast cancer, with a HR of 1.21 (95% CI: 1.03\u20131.41). In contrast, previous use showed no association (HR = 0.99, 95% CI: 0.92\u20131.05). Genetic risk, as measured by the PRS, was strongly associated with breast cancer risk (P < 0.001). Individuals in the highest PRS decile had approximately three times higher risk compared to those in the mid deciles. Importantly, for the association between current OC use and breast cancer risk, a statistically significant trend was observed across both PRS deciles (P = 0.04) and tertiles (P = 0.05), with decreasing HRs as genetic risk increased. Specifically, the HR for current OC use was 1.43 (95% CI: 1.02\u20132.01) in the lowest PRS tertile, 1.14 (95% CI: 0.89\u20131.45) in the middle tertile, and 0.96 (95% CI: 0.80\u20131.14) in the highest tertile. CONCLUSION: Both OC use and a high PRS increase the risk of breast cancer. There is a trend toward a decreased relative risk associated with OC use among those with higher genetic predisposition. Therefore, there is no evidence to suggest that women with a high genetic risk for breast cancer are more adversely affected by OC use.", "doi": "10.1186/s13058-025-02177-5", "pmid": "41327462", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC12690897"}, {"db": "pii", "key": "10.1186/s13058-025-02177-5"}], "notes": [], "created": "2026-08-20T12:21:32.258Z", "modified": "2026-08-20T12:21:32.337Z"}, {"entity": "publication", "iuid": "406a6b57182e4f4993d607f4bc92ff6c", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/406a6b57182e4f4993d607f4bc92ff6c.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/406a6b57182e4f4993d607f4bc92ff6c"}}, "title": "Improving accuracy in genome-wide association studies: a two-step approach for handling below limit of detection biomarker measurements.", "authors": [{"family": "Deng", "given": "Yaqi A", "initials": "YA", "orcid": "0009-0006-2947-2433", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2f8333c82d644605a42fa231b09f2774.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": "2025-12-00", "journal": {"title": "NAR Genomics and Bioinformatics", "issn": "2631-9268", "volume": "7", "issue": "4", "pages": "lqaf201", "issn-l": null}, "abstract": "Advances in high-throughput technologies enable large-scale studies on genomics and molecular phenotypes. However, the trade-off between quality and quantity reduces assay sensitivity, and several measurements in large-scale proteomics and metabolomics analytes fall below the limit of detection (LOD). If not properly addressed, this may introduce bias in effect estimates. To address this, we conducted a simulation study to evaluate the performance of linear, Tobit, Cox, and logistic modeling in the presence of below-LOD measurements in genome-wide association studies. We identified the optimal strategy as a two-step Linear-Tobit scheme, including rapid screening with linear regression followed by refinement with Tobit regression to retrieve accurate effect estimates. This higher accuracy helps mitigate a 1.3-fold and 2.7-fold inflation in causal estimates in a Mendelian randomization (MR) study, which would otherwise be present with 50% and 90% values below LOD. Validation through case studies on estradiol and testosterone levels in the UK Biobank confirmed the simulation results across subgroups with varying proportions of below-LOD measurements. The Linear-Tobit scheme offers optimal detection power and efficiency, with a focus on its applicability to biobank-scale datasets and accuracy in effect estimates to mitigate bias in downstream applications such as MR and polygenic risk scores.", "doi": "10.1093/nargab/lqaf201", "pmid": "41480591", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC12754788"}, {"db": "pii", "key": "lqaf201"}], "notes": [], "created": "2026-08-20T09:43:04.586Z", "modified": "2026-08-20T09:43:04.719Z"}, {"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": "6b8afd3a9f3a494cbeaf99132631b8b3", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/6b8afd3a9f3a494cbeaf99132631b8b3.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/6b8afd3a9f3a494cbeaf99132631b8b3"}}, "title": "Effects of oral contraceptives and menopausal hormone therapy on the risk of rheumatoid arthritis: a prospective cohort study.", "authors": [{"family": "Hadizadeh", "given": "Fatemeh", "initials": "F", "orcid": "0000-0002-9855-7610", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8d0b9d82968f456798ee9dd0b1dfa7d9.json"}}, {"family": "Johansson", "given": "Therese", "initials": "T"}, {"family": "Johansson", "given": "\u00c5sa", "initials": "\u00c5", "orcid": "0000-0002-2915-4498", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a0bac3e1e64949fcbac4b4d839e1144d.json"}}, {"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"}], "type": "journal article", "published": "2024-08-01", "journal": {"title": "Rheumatology (Oxford)", "issn": "1462-0332", "volume": "63", "issue": "8", "pages": "2101-2108", "issn-l": "1462-0324"}, "abstract": "Oral contraceptives (OC) and menopausal hormone therapy (MHT) contain exogenous sex hormones and are used by millions of women around the world. However, their effect on the development of rheumatoid arthritis (RA) is still debated and the current literature suggests that they may exert opposite effects on the risk of RA. The present study aimed to estimate the effects of exogenous hormones on the development of RA, both during the reproductive lifespan and later in life.\n\nThe association between OC and RA, as well as between MHT and late-onset RA (LORA), was investigated using time-dependent Cox regression modelling in white British women from the UK Biobank (n = 236 602 and n = 102 466, respectively) and replicated in women from all ethnic groups.\n\nOC use was associated with a decreased risk of RA in ever-users [hazard ratio (HR) = 0.89; 95% CI = 0.82-0.96], as well as in current (HR = 0.81; 0.73-0.91) and former users (HR = 0.92; 0.84 -1.00), compared with never-users. In contrast, MHT use was associated with an increased risk of LORA in ever-users (HR = 1.16; 1.06-1.26) as well as in former users (HR = 1.13; 1.03-1.24) compared with never-users.\n\nOC use appears to protect against RA, while MHT may increase the risk of LORA. This study provides new insights into the possible inverse effect of exposure to different exogenous sex hormones on the risk of RA.", "doi": "10.1093/rheumatology/kead513", "pmid": "37773999", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC11292047"}, {"db": "pii", "key": "7286437"}], "notes": [], "created": "2026-08-20T09:51:44.110Z", "modified": "2026-08-20T09:51:44.224Z"}, {"entity": "publication", "iuid": "b73b4aa99d6147469278a0f4e9f0fb6f", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/b73b4aa99d6147469278a0f4e9f0fb6f.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/b73b4aa99d6147469278a0f4e9f0fb6f"}}, "title": "Oral Contraceptives, Hormone Replacement Therapy, and Stroke Risk.", "authors": [{"family": "Johansson", "given": "Therese", "initials": "T", "orcid": "0000-0003-1043-7065", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d4005242bc4c45f6a0899226560837f8.json"}}, {"family": "Fowler", "given": "Philip", "initials": "P"}, {"family": "Ek", "given": "Weronica E", "initials": "WE", "orcid": "0000-0003-2194-496X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8172f56f87554938a75cef7505f8603e.json"}}, {"family": "Skalkidou", "given": "Alkistis", "initials": "A", "orcid": "0000-0002-4935-7532", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/882f68bd159a46e5999dedb151bd7ea4.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": "2022-10-00", "journal": {"title": "Stroke", "issn": "1524-4628", "volume": "53", "issue": "10", "pages": "3107-3115", "issn-l": "0039-2499"}, "abstract": "Millions of women worldwide use exogenous hormones as oral contraceptives or hormone replacement therapy. Still, time-dependent and long-term consequences of exogenous hormones on stroke risk remains unclear.\n\nWe examined the association between self-reported oral contraceptive and hormone replacement therapy use and stroke risk in 257 194 women from the UK Biobank, born between 1939 and 1970. Outcomes included any type of stroke, ischemic stroke, intracerebral hemorrhage, and subarachnoid hemorrhage. Exposures were analyzed as time-varying variables in Cox regression models.\n\nDuring first year of oral contraceptive use, an increased event rate of any stroke was observed (hazard ratio [HR], 2.49 [95% CI, 1.44-4.30]), while the hazards were found to be comparable during remaining years of use (HR, 1.00 [95% CI, 0.86-1.14]), compared with nonusers. Similarly, first year of hormone replacement therapy use was associated with higher hazard rates of any stroke (HR, 2.12 [95% CI, 1.66-2.70]), as well as cause-specific stroke, including ischemic stroke (HR, 1.93 [95% CI, 1.05-3.57]) and subarachnoid hemorrhage (HR, 2.17 [95% CI, 1.25-3.78]), which remained increased for any stroke during remaining years of use (HR, 1.18 [95% CI, 1.05-1.31]), and after discontinuation (HR, 1.16 [95% CI, 1.02-1.32]).\n\nOral contraceptive use and hormone replacement therapy were associated with an increased risk of stroke, especially during the first year of use, possibly due to immediate changes in hemostatic balance. This study provides new insights on the effects of hormone exposure on stroke risk and provide evidence of not only an overall risk but also a pronounced effects seen in the beginning of treatment.", "doi": "10.1161/STROKEAHA.121.038659", "pmid": "35735009", "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T12:16:19.528Z", "modified": "2026-08-20T12:16:19.615Z"}, {"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": "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"}, {"entity": "publication", "iuid": "811376166b9e4ba485988f33d9d78bc8", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/811376166b9e4ba485988f33d9d78bc8.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/811376166b9e4ba485988f33d9d78bc8"}}, "title": "Contribution of genetics to visceral adiposity and its relation to cardiovascular and metabolic disease.", "authors": [{"family": "Karlsson", "given": "Torgny", "initials": "T", "orcid": "0000-0001-8095-6149", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c8b2bb8ecf4545ad946ae2203c870282.json"}}, {"family": "Rask-Andersen", "given": "Mathias", "initials": "M"}, {"family": "Pan", "given": "Gang", "initials": "G"}, {"family": "H\u00f6glund", "given": "Julia", "initials": "J"}, {"family": "Wadelius", "given": "Claes", "initials": "C"}, {"family": "Ek", "given": "Weronica E", "initials": "WE"}, {"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": "2019-09-00", "journal": {"title": "Nat. Med.", "issn": "1546-170X", "volume": "25", "issue": "9", "pages": "1390-1395", "issn-l": "1078-8956"}, "abstract": "Visceral adipose tissue (VAT)-fat stored around the internal organs-has been suggested as an independent risk factor for cardiovascular and metabolic disease1-3, as well as all-cause, cardiovascular-specific and cancer-specific mortality4,5. Yet, the contribution of genetics to VAT, as well as its disease-related effects, are largely unexplored due to the requirement for advanced imaging technologies to accurately measure VAT. Here, we develop sex-stratified, nonlinear prediction models (coefficient of determination = 0.76; typical 95% confidence interval (CI) = 0.74-0.78) for VAT mass using the UK Biobank cohort. We performed a genome-wide association study for predicted VAT mass and identified 102 novel visceral adiposity loci. Predicted VAT mass was associated with increased risk of hypertension, heart attack/angina, type 2 diabetes and hyperlipidemia, and Mendelian randomization analysis showed visceral fat to be a causal risk factor for all four diseases. In particular, a large difference in causal effect between the sexes was found for type 2 diabetes, with an odds ratio of 7.34 (95% CI = 4.48-12.0) in females and an odds ratio of 2.50 (95% CI = 1.98-3.14) in males. Our findings bolster the role of visceral adiposity as a potentially independent risk factor, in particular for type 2 diabetes in Caucasian females. Independent validation in other cohorts is necessary to determine whether the findings can translate to other ethnicities, or outside the UK.", "doi": "10.1038/s41591-019-0563-7", "pmid": "31501611", "labels": [], "xrefs": [{"db": "pii", "key": "10.1038/s41591-019-0563-7"}], "notes": [], "created": "2026-08-20T09:01:44.821Z", "modified": "2026-08-20T09:01:44.867Z"}]}