Browsing by Subject "SEX"

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  • Tukiainen, Taru; Pirinen, Matti; Sarin, Antti-Pekka; Ladenvall, Claes; Kettunen, Johannes; Lehtimaeki, Terho; Lokki, Marja-Liisa; Perola, Markus; Sinisalo, Juha; Vlachopoulou, Efthymia; Eriksson, Johan G.; Groop, Leif; Jula, Antti; Jaervelin, Marjo-Riitta; Raitakari, Olli T.; Salomaa, Veikko; Ripatti, Samuli (2014)
  • CTR-TBI Participants; Mikolic, Ana; van Klaveren, David; Oude Groeniger, Joost; Polinder, Suzanne; Palotie, Aarno; Piippo-Karjalainen, Anna; Pirinen, Matti; Raj, Rahul; Ripatti, Samuli (2021)
    Traumatic brain injury (TBI) is a significant cause of disability, but little is known about sex and gender differences after TBI. We aimed to analyze the association between sex/gender, and the broad range of care pathways, treatment characteristics, and outcomes following mild and moderate/severe TBI. We performed mixed-effects regression analyses in the prospective multi-center Collaborative European NeuroTrauma Effectiveness Research in Traumatic Brain Injury (CENTER-TBI) study, stratified for injury severity and age, and adjusted for baseline characteristics. Outcomes were various care pathway and treatment variables, and 6-month measures of functional outcome, health-related quality of life (HRQoL), post-concussion symptoms (PCS), and mental health symptoms. The study included 2862 adults (36% women) with mild (mTBI; Glasgow Coma Scale [GCS] score 13-15), and 1333 adults (26% women) with moderate/severe TBI (GCS score 3-12). Women were less likely to be admitted to the intensive care unit (ICU; odds ratios [OR] 0.6, 95% confidence interval [CI]: 0.4-0.8) following mTBI. Following moderate/severe TBI, women had a shorter median hospital stay (OR 0.7, 95% CI: 0.5-1.0). Following mTBI, women had poorer outcomes; lower Glasgow Outcome Scale Extended (GOSE; OR 1.4, 95% CI: 1.2-1.6), lower generic and disease-specific HRQoL, and more severe PCS, depression, and anxiety. Among them, women under age 45 and above age 65 years showed worse 6-month outcomes compared with men of the same age. Following moderate/severe TBI, there was no difference in GOSE (OR 0.9, 95% CI: 0.7-1.2), but women reported more severe PCS (OR 1.7, 95% CI: 1.1-2.6). Men and women differ in care pathways and outcomes following TBI. Women generally report worse 6-month outcomes, but the size of differences depend on TBI severity and age. Future studies should examine factors that explain these differences.
  • Penttilä, Tero; Lehto, Mika; Niiranen, Jussi; Mehtälä, Juha; Khanfir, Houssem; Lassila, Riitta; Raatikainen, Pekka (2019)
    Females with atrial fibrillation (AF) have been suggested to carry a higher risk for thromboembolic events than males. We compared the residual risk of stroke, bleeding events, and cardiovascular and all-cause mortality among female and male AF patients taking warfarin. Data from several nationwide registries and laboratory databases were linked with the civil registration number of the patients. A total of 54568 patients with data on the quality of warfarin treatment (time in therapeutic range) 60days prior to the events were included (TTR60). Gender differences in the endpoints were reported for the whole population, pre-specified age groups, and different TTR60 groups. During the 3.21.6years follow-up, there were no differences in the adjusted risk of stroke [hazard ratio (HR) 0.97, 95% confidence interval (CI) 0.911.03, P=0.304] between the genders. Cardiovascular mortality (HR 0.82, 95% CI 0.780.88, P <0.001) and all-cause mortality (HR 0.79, 95% CI 0.750.83, P <0.001) were lower in women when compared with men. There were no differences in the risk of stroke, cardiovascular mortality, and all-cause mortality between the genders in the TTR60 categories except for those with TTR60 <50%. Bleeding events were less frequent in females (HR 0.52, 95% CI 0.490.56, P <0.001). There were no differences in the risk of stroke between female and male AF patients taking warfarin. Cardiovascular mortality, all-cause mortality, and risk of bleeding events were lower in females. Hence, female gender was not a risk marker for adverse outcomes in AF patients with proper warfarin therapy.
  • Kemp, John P.; Sayers, Adrian; Paternoster, Lavinia; Evans, David M.; Deere, Kevin; St Pourcain, Beate; Timpson, Nicholas J.; Ring, Susan M.; Lorentzon, Mattias; Lehtimaki, Terho; Eriksson, Joel; Kahonen, Mika; Raitakari, Olli; Laaksonen, Marika; Sievanen, Harri; Viikari, Jorma; Lyytikainen, Leo-Pekka; Smith, George Davey; Fraser, William D.; Vandenput, Liesbeth; Ohlsson, Claes; Tobias, Jon H. (2014)
  • Boraska, Vesna; Day-Williams, Aaron; Franklin, Christopher S.; Elliott, Katherine S.; Panoutsopoulou, Kalliope; Tachmazidou, Ioanna; Albrecht, Eva; Bandinelli, Stefania; Beilin, Lawrence J.; Bochud, Murielle; Cadby, Gemma; Ernst, Florian; Evans, David M.; Hayward, Caroline; Hicks, Andrew A.; Huffman, Jennifer; Huth, Cornelia; James, Alan L.; Klopp, Norman; Kolcic, Ivana; Kutalik, Zoltan; Lawlor, Debbie A.; Musk, Arthur W.; Pehlic, Marina; Pennell, Craig E.; Perry, John R. B.; Peters, Annette; Polasek, Ozren; St Pourcain, Beate; Ring, Susan M.; Salvi, Erika; Schipf, Sabine; Staessen, Jan A.; Teumer, Alexander; Timpson, Nicholas; Vitart, Veronique; Warrington, Nicole M.; Yaghootkar, Hanieh; Zemunik, Tatijana; Zgaga, Lina; An, Ping; Anttila, Verneri; Borecki, Ingrid B.; Holmen, Jostein; Ntalla, Ioanna; Palotie, Aarno; Pietiläinen, Kirsi Hannele; Wedenoja, Juho; Winsvold, Bendik S.; Dedoussis, George V.; Kaprio, Jaakko; Province, Michael A.; Zwart, John-Anker; Burnier, Michel; Campbell, Harry; Cusi, Daniele; Smith, George Davey; Frayling, Timothy M.; Gieger, Christian; Palmer, Lyle J.; Pramstaller, Peter P.; Rudan, Igor; Voelzke, Henry; Wichmann, H. Erich; Wright, Alan F.; Zeggini, Eleftheria (2012)
  • Santangeli, Andrea; Wistbacka, Ralf; Morosinotto, Chiara; Raulo, Aura (2019)
    Intact ecosystems are being lost or modified worldwide, and many animal species are now forced to live in altered landscapes. A large amount of scientific studies have focused on understanding direct effects of habitat alterations on species occurrence, abundance, breeding success, and other life history aspects. Much less attention has been placed on understanding how habitat alterations impact on the physiology of species, e.g., via elevated chronic stress when living in an altered landscape. Here, we quantify the effects of individual age and sex, as well as effects of landscape and social factors on chronic stress of an endangered forest specialist species, the Siberian flying squirrel Pteromys volans. We collected hair samples over 2years from across 192 flying squirrels and quantified their chronic stress response via cortisol concentrations. We then ran statistical models to relate cortisol concentrations with landscape and social factors. We show that cortisol concentrations in flying squirrels are neither affected by habitat amount and connectivity, nor by the density of conspecifics in the area. We however found that cortisol concentration was higher in adults than in pups, and in males compared with females. Lack of an effect of environmental factors on cortisol concentrations may indicate low physiological sensitivity to alterations in the surrounding environment, possibly due to low densities of predators that could induce stress in the study area. Further research should focus on possible effects of varying predator densities, alone and in interaction with landscape features, in shaping chronic stress of this and other species.
  • Kuula, Liisa; Tamminen, Jakke; Makkonen, Tommi; Merikanto, Ilona; Räikkönen, Katri; Pesonen, Anu-Katriina (2019)
    Background: Sleep facilitates the extraction of semantic regularities amongst newly encoded memories, which may also lead to increased false memories. We investigated sleep stage proportions and sleep spindles in the recollection of adolescents' false memories, and their potential sex-specific differences. Methods: 196 adolescents (mean age 16.9 y; SD = 0.1, 61% girls) underwent the Deese, Roediger & McDermott (DRM) false memory procedure and overnight polysomnography, with free recall the following morning. Sleep was scored manually into stages 1, 2, 3 and REM. Stage 2 sleep spindle frequency, density, and peak amplitude were used as measures of spindle activity for slow (10-13 Hz) and fast (13-16 Hz) ranges. Results: In girls, a lower number of critical lures was associated with higher spindle frequency (p Conclusions: In adolescent girls, higher spindle activity was associated with fewer critical lures being falsely recalled in the DRM paradigm. Unlike studies using adult participants, we did not observe any association between slow-wave sleep and false memory recollection.
  • Local Burden Dis Educ Attainment C; Graetz, Nicholas; Woyczynski, Lauren; Wilson, Katherine F.; Meretoja, Tuomo J. (2021)
    BackgroundHuman immunodeficiency virus (HIV) remains a public health priority in Latin America. While the burden of HIV is historically concentrated in urban areas and high-risk groups, subnational estimates that cover multiple countries and years are missing. This paucity is partially due to incomplete vital registration (VR) systems and statistical challenges related to estimating mortality rates in areas with low numbers of HIV deaths. In this analysis, we address this gap and provide novel estimates of the HIV mortality rate and the number of HIV deaths by age group, sex, and municipality in Brazil, Colombia, Costa Rica, Ecuador, Guatemala, and Mexico.MethodsWe performed an ecological study using VR data ranging from 2000 to 2017, dependent on individual country data availability. We modeled HIV mortality using a Bayesian spatially explicit mixed-effects regression model that incorporates prior information on VR completeness. We calibrated our results to the Global Burden of Disease Study 2017.ResultsAll countries displayed over a 40-fold difference in HIV mortality between municipalities with the highest and lowest age-standardized HIV mortality rate in the last year of study for men, and over a 20-fold difference for women. Despite decreases in national HIV mortality in all countries-apart from Ecuador-across the period of study, we found broad variation in relative changes in HIV mortality at the municipality level and increasing relative inequality over time in all countries. In all six countries included in this analysis, 50% or more HIV deaths were concentrated in fewer than 10% of municipalities in the latest year of study. In addition, national age patterns reflected shifts in mortality to older age groups-the median age group among decedents ranged from 30 to 45years of age at the municipality level in Brazil, Colombia, and Mexico in 2017.ConclusionsOur subnational estimates of HIV mortality revealed significant spatial variation and diverging local trends in HIV mortality over time and by age. This analysis provides a framework for incorporating data and uncertainty from incomplete VR systems and can help guide more geographically precise public health intervention to support HIV-related care and reduce HIV-related deaths.
  • Toffol, Elena; Kalleinen, Nea; Himanen, Sari-Leena; Partonen, Timo; Haukka, Jari; Polo-Kantola, Paivi (2021)
    Background: Sleep quality typically decreases after menopause, but the underlying mechanisms are poorly understood. Concentrations of melatonin are lower and its secretion profiles different before and after menopause. However, whether and how melatonin and sleep architecture are associated in women of different reproductive states have not been examined to date. Methods: Overnight serum melatonin samples were taken from 17 perimenopausal and 18 postmenopausal healthy women. Sleep quality was measured with all-night polysomnography recordings. Results: Melatonin concentrations tended to be the lowest during NREM sleep, and were associated with higher odds of transitions from wake to NREM sleep. The curves of predicted overnight melatonin values from linear mixed models varied according to sleep phases (NREM, REM, Wake) in perimenopausal, but not in postmenopausal women. In perimenopause higher melatonin area under curve (AUC) correlated with higher slow-wave activity (p = 0.043), and higher minimum concentrations with shorter slow-wave sleep (SWS) latency (p = 0.029). In postmenopause higher mean and maximum melatonin concentrations and AUC correlated with lower SWS percentage (p = 0.044, p = 0.029, p = 0.032), and higher mean (p = 0.032), maximum (p = 0.032) and minimum (p = 0.037) concentrations with more awakenings from REM sleep. In the age- and BMI-adjusted regression models, the association between higher maximum (p = 0.046) melatonin concentration and lower SWS percentage remained. Conclusions: The relationship between melatonin and sleep architecture differed in perimenopausal and postmenopausal women. After menopause, high melatonin concentrations were associated with worse sleep. Whether these different patterns are related to aging of the reproductive system, and to decrease in menopausal sleep quality, remains to be elucidated. (c) 2021 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY license (
  • Loley, Christina; Alver, Maris; Assimes, Themistocles L.; Bjonnes, Andrew; Goel, Anuj; Gustafsson, Stefan; Hernesniemi, Jussi; Hopewell, Jemma C.; Kanoni, Stavroula; Kleber, Marcus E.; Lau, King Wai; Lu, Yingchang; Lyytikainen, Leo-Pekka; Nelson, Christopher P.; Nikpay, Majid; Qu, Liming; Salfati, Elias; Scholz, Markus; Tukiainen, Taru; Willenborg, Christina; Won, Hong-Hee; Zeng, Lingyao; Zhang, Weihua; Anand, Sonia S.; Beutner, Frank; Bottinger, Erwin P.; Clarke, Robert; Dedoussis, George; Do, Ron; Esko, Tonu; Eskola, Markku; Farrall, Martin; Gauguier, Dominique; Giedraitis, Vilmantas; Granger, Christopher B.; Hall, Alistair S.; Hamsten, Anders; Hazen, Stanley L.; Huang, Jie; Kahonen, Mika; Kyriakou, Theodosios; Laaksonen, Reijo; Lind, Lars; Lindgren, Cecilia; Magnusson, Patrik K. E.; Marouli, Eirini; Mihailov, Evelin; Morris, Andrew P.; Nikus, Kjell; Pedersen, Nancy; Rallidis, Loukianos; Salomaa, Veikko; Shah, Svati H.; Stewart, Alexandre F. R.; Thompson, John R.; Zalloua, Pierre A.; Chambers, John C.; Collins, Rory; Ingelsson, Erik; Iribarren, Carlos; Karhunen, Pekka J.; Kooner, Jaspal S.; Lehtimaki, Terho; Loos, Ruth J. F.; Maerz, Winfried; McPherson, Ruth; Metspalu, Andres; Reilly, Muredach P.; Ripatti, Samuli; Sanghera, Dharambir K.; Thiery, Joachim; Watkins, Hugh; Deloukas, Panos; Kathiresan, Sekar; Samani, Nilesh J.; Schunkert, Heribert; Erdmann, Jeanette; Koenig, Inke R. (2016)
    In recent years, genome-wide association studies have identified 58 independent risk loci for coronary artery disease (CAD) on the autosome. However, due to the sex-specific data structure of the X chromosome, it has been excluded from most of these analyses. While females have 2 copies of chromosome X, males have only one. Also, one of the female X chromosomes may be inactivated. Therefore, special test statistics and quality control procedures are required. Thus, little is known about the role of X-chromosomal variants in CAD. To fill this gap, we conducted a comprehensive X-chromosome-wide meta-analysis including more than 43,000 CAD cases and 58,000 controls from 35 international study cohorts. For quality control, sex-specific filters were used to adequately take the special structure of X-chromosomal data into account. For single study analyses, several logistic regression models were calculated allowing for inactivation of one female X-chromosome, adjusting for sex and investigating interactions between sex and genetic variants. Then, meta-analyses including all 35 studies were conducted using random effects models. None of the investigated models revealed genome-wide significant associations for any variant. Although we analyzed the largest-to-date sample, currently available methods were not able to detect any associations of X-chromosomal variants with CAD.
  • Juvela, Seppo (2020)
    The purpose was to obtain a reliable scoring for growth of unruptured intracranial aneurysms (UIAs) in a long-term follow-up study from variables known at baseline and to compare it with the ELAPSS (Earlier subarachnoid hemorrhage, Location of the aneurysm, Age > 60 years, Population, Size of the aneurysm, and Shape of the aneurysm) score obtained froman individual-based meta-analysis. The series consists of 87 patients with 111 UIAs and 1669 person-years of follow-up between aneurysm size measurements (median follow-up time per patient 21.7, range 1.2 to 51.0 years). These were initially diagnosed between 1956 and 1978, when UIAs were not treated in our country. ELAPSS scores at baseline did not dier between those with and those without aneurysm growth. The area under the curve (AUC) for the receiver operating curve (ROC) of the ELAPSS score for predicting long-term growth was fail (0.474, 95% CI 0.345–0.603), and the optimal cut-o point was obtained at 7 vs. <7 points for sensitivity (0.829) and specificity (0.217). In the present series UIA growth was best predicted by female sex (4 points), smoking at baseline (3 points), and age <40 years (2 points). The AUC for the ROC of the new scoring was fair (0.662, 95% CI 0.546–0.779), which was significantly better than that of ELAPSS score (p < 0.05). The optimal cut-o point was obtained at 4 vs. <4 points for sensitivity (0.971) and specificity (0.304). A new simple scoring consisting of only female sex, cigarette smoking and age <40 years predicted growth of an intracranial aneurysm in long-term follow-up, significantly better than the ELAPSS score.
  • PCAWG Evolution Heterogeneity Work; PCAWG Consortium; Gerstung, Moritz; Jolly, Clemency; Leshchiner, Ignaty; Mustonen, Ville; Cao, Shaolong (2020)
    Cancer develops through a process of somatic evolution(1,2). Sequencing data from a single biopsy represent a snapshot of this process that can reveal the timing of specific genomic aberrations and the changing influence of mutational processes(3). Here, by whole-genome sequencing analysis of 2,658 cancers as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA)(4), we reconstruct the life history and evolution of mutational processes and driver mutation sequences of 38 types of cancer. Early oncogenesis is characterized by mutations in a constrained set of driver genes, and specific copy number gains, such as trisomy 7 in glioblastoma and isochromosome 17q in medulloblastoma. The mutational spectrum changes significantly throughout tumour evolution in 40% of samples. A nearly fourfold diversification of driver genes and increased genomic instability are features of later stages. Copy number alterations often occur in mitotic crises, and lead to simultaneous gains of chromosomal segments. Timing analyses suggest that driver mutations often precede diagnosis by many years, if not decades. Together, these results determine the evolutionary trajectories of cancer, and highlight opportunities for early cancer detection.
  • Laine, Anna-Liisa; Barres, Benoit; Numminen, Elina; Siren, Jukka P. (2019)
    Many pathogens possess the capacity for sex through outcrossing, despite being able to reproduce also asexually and/or via selfing. Given that sex is assumed to come at a cost, these mixed reproductive strategies typical of pathogens have remained puzzling. While the ecological and evolutionary benefits of outcrossing are theoretically well-supported, support for such benefits in pathogen populations are still scarce. Here, we analyze the epidemiology and genetic structure of natural populations of an obligate fungal pathogen, Podosphaera plantaginis. We find that the opportunities for outcrossing vary spatially. Populations supporting high levels of coinfection -a prerequisite of sex - result in hotspots of novel genetic diversity. Pathogen populations supporting coinfection also have a higher probability of surviving winter. Jointly our results show that outcrossing has direct epidemiological consequences as well as a major impact on pathogen population genetic diversity, thereby providing evidence of ecological and evolutionary benefits of outcrossing in pathogens.
  • Hemilä, Harri (1997)
    Although the role of vitamin C in common cold incidence had been studied extensively, the level of vitamin C intake has not been unequivocally shown to affect the incidence of colds. In the present study the six largest vitamin C supplementation (> or = 1 g/d) studies, including over 5000 episodes in all, have been analysed, and it is shown that common cold incidence is not reduced in the vitamin C-supplemented groups compared with the placebo groups (pooled rate ratio (RR) 0.99; 95% CI 0.93, 1.04). Consequently these six major studies give no evidence that high-dose vitamin C supplementation decreases common cold incidence in ordinary people. Nevertheless, the analysis was continued with the hypothesis that vitamin C intake may affect common cold susceptibility in specific groups of people. It was assumed that the potential effect of supplementation might be most conspicuous in subjects with low dietary vitamin C intake. The average vitamin C intake has been rather low in the UK and plasma vitamin C concentrations are in general lower in males than in females. In four studies with British females vitamin C supplementation had no marked effect on common cold incidence (pooled RR 0.95; 95% CI 0.86, 1.04). However, in four studies with British male schoolchildren and students a statistically highly significant reduction in common cold incidence was found in groups supplemented with vitamin C (pooled RR 0.70; 95% CI 0.60, 0.81). Thus, these studies with British males indicate that vitamin C intake has physiological effects on susceptibility to common cold infections, although the effect seems quantitatively meaningful only in limited groups of people and is not very large.