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- Sliz, E., et al.
(författare)
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Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata
- 2023
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 14:1
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Tidskriftsartikel (refereegranskat)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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- Hakkinen, K, et al.
(författare)
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Implementation of CYP2D6 copy-number imputation panel and frequency of key pharmacogenetic variants in Finnish individuals with a psychotic disorder
- 2022
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Ingår i: The pharmacogenomics journal. - : Springer Science and Business Media LLC. - 1473-1150 .- 1470-269X. ; 22:3, s. 166-172
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Tidskriftsartikel (refereegranskat)abstract
- We demonstrate that CYP2D6 copy-number variation (CNV) can be imputed using existing imputation algorithms. Additionally, we report frequencies of key pharmacogenetic variants in individuals with a psychotic disorder from the genetically bottle-necked population of Finland. We combined GWAS chip and CYP2D6 CNV data from the Breast Cancer Pain Genetics study to construct an imputation panel (n = 902) for CYP2D6 CNV. The resulting data set was used as a CYP2D6 CNV imputation panel in 9262 non-related individuals from the SUPER-Finland study. Based on imputation of 9262 individuals we confirm the higher frequency of CYP2D6 ultrarapid metabolizers and a 22-fold enrichment of the UGT1A1 decreased function variant rs4148323 (UGT1A1*6) in Finland compared with non-Finnish Europeans. Similarly, the NUDT15 variant rs116855232 was highly enriched in Finland. We demonstrate that imputation of CYP2D6 CNV is possible and the methodology enables studying CYP2D6 in large biobanks with genome-wide data.
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- Simoila, L, et al.
(författare)
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Obstetric and perinatal health outcomes related to schizophrenia: A national register-based follow-up study among Finnish women born between 1965 and 1980 and their offspring
- 2018
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Ingår i: European psychiatry : the journal of the Association of European Psychiatrists. - : Cambridge University Press (CUP). - 1778-3585. ; 52, s. 68-75
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Tidskriftsartikel (refereegranskat)abstract
- Background:This national register-based study assesses obstetric and perinatal health outcomes in women with schizophrenia and their offspring.Methods:Using the Care Register for Health Care, we identified Finnish women who were born in 1965- 1980 and diagnosed with schizophrenia. For each case, five age- and place-of-birth- matched controls were obtained from the Central Population Register of Finland. They were followed from the day when the disorder was diagnosed in specialized health-care (the index day) until 31.12.2013. Information related to births was obtained from the Medical Birth Register and the Register of Congenital Malformations. We focused on singleton pregnancies that led to a delivery after the index day. We restricted the analysis of deliveries in controls to those that occurred after the index day of the case. Maternal age, marital status, smoking status, sex of the newborn, and parity were used as covariates in adjusted models.Results:We identified 1162 singleton births among women with schizophrenia and 4683 among controls. Schizophrenic women had a 1.4-fold increased risk of induction of labor, delivery by cesarean section, and delivery by elective cesarean section. Regarding offspring, the risk of premature birth and the risk of low Apgar score at 1 min (<7) were 1.6-fold, of resuscitation 2.5-fold, and of neonatal monitoring 2.1-fold higher.Conclusions:Schizophrenia associates with some specific delivery methods, but delivery complications are rare and their prevalence does not differ from that observed among community women. Maternal schizophrenia associates with some negative perinatal health outcomes of the offspring.
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