| 1. |
- Sliz, E., et al.
(author)
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Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata
- 2023
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 14:1
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Journal article (peer-reviewed)abstract
- Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated loci harbour genes enriched for development, growth, and cellular senescence. Of particular interest are the smooth muscle cell differentiation and proliferation-regulating genes functioning on the myocardin-cyclin dependent kinase inhibitor 1A pathway. Our results further suggest that genetic predisposition to increased fat-free mass may be causally related to higher UL risk, underscoring the involvement of altered muscle tissue biology in UL pathophysiology. Overall, our findings add to the understanding of the genetic pathways underlying UL, which may aid in developing novel therapeutics.
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| 2. |
- Tabassum, R, et al.
(author)
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Genetic architecture of human plasma lipidome and its link to cardiovascular disease
- 2019
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In: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 4329-
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Journal article (peer-reviewed)abstract
- Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10−8), 10 of which associate with CVD risk including five new loci-COL5A1, GLTPD2, SPTLC3, MBOAT7 and GALNT16 (false discovery rate<0.05). We identify loci for lipid species that are shown to predict CVD e.g., SPTLC3 for CER(d18:1/24:1). We show that lipoprotein lipase (LPL) may more efficiently hydrolyze medium length triacylglycerides (TAGs) than others. Polyunsaturated lipids have highest heritability and genetic correlations, suggesting considerable genetic regulation at fatty acids levels. We find low genetic correlations between traditional lipids and lipid species. Our results show that lipidomic profiles capture information beyond traditional lipids and identify genetic variants modifying lipid levels and risk of CVD.
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| 3. |
- Pomp, S, et al.
(author)
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The new Uppsala neutron beam facility
- 2005
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In: Proc. of the Int. conf. on Nuclear Data for Sceince and Technology: Santa Fé, New Mexico, USA, September 26-October 1, 2004. ; , s. 780-
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Conference paper (peer-reviewed)
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| 4. |
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| 5. |
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| 6. |
- Prokofiev, A. V, et al.
(author)
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A new neutron beam facility at TSL
- 2006
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In: International workshop on Fast Neutron Detectors and Applications,Cape Town, South Africa, April 3-6. ; , s. 016-
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Conference paper (peer-reviewed)
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| 7. |
- Prokofiev, A.V, et al.
(author)
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A New Neutron Beam Facility at TSL
- 2007
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In: Tenth Symposium on Neutron Dosimetry,Uppsala, Sweden, June 12-16, 2006 (accepted)..
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Conference paper (peer-reviewed)
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| 8. |
- Prokofiev, A.V, et al.
(author)
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A new neutron facility for SEE testing
- 2005
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In: 8th European Conference on Radiation and its Effects on Components and systems, 2005, (in press).
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Conference paper (peer-reviewed)
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| 9. |
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| 10. |
- Prokofiev, A.V, et al.
(author)
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A new neutron facility for single-event testing
- 2005
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In: IEEE International Reliability Physics Symposium (IRPS2005): San José, California, USA, April 17-21, 2005, (in press).
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Conference paper (pop. science, debate, etc.)
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