Browsing by Subject "SEX"

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  • Moilanen, Ulla; Kirkinen, Tuija; Saari, Nelli Johanna; Rohrlach, Adam B.; Krause, Johannes; Onkamo, Païvi; Salmela, Elina (2022)
    In 1968, a weapon grave with brooches was found at Suontaka Vesitorninmäki, Hattula, Finland. Since then, the grave has been interpreted as evidence of powerful women, even female warriors and leaders in early medieval Finland. Others have denied the possibility of a woman buried with a sword and tried to explain it as a double burial. We present the first modern analysis of the grave, including an examination of its context, a soil sample analysis for microremains, and an aDNA analysis. Based on these analyses, we suggest a new interpretation: the Suontaka grave possibly belonged to an individual with sex-chromosomal aneuploidy XXY. The overall context of the grave indicates that it was a respected person whose gender identity may well have been non-binary.
  • Ervaala, Attina; Laivuori, Hannele; Gissler, Mika; Kere, Juha; Pouta, Anneli; Kajantie, Eero; Heinonen, Seppo; Wedenoja, Satu (2022)
    Pregnancies conceived through donor oocytes or sperm show increased risk for preeclampsia. We studied this issue in a preeclampsia case-control cohort (n = 2778), and found overrepresentation of donor cell gestations among women with preeclampsia (14/1627, 0.86%; OR 1.81; 95% CI: 1.07-3.08; P = 0.025) compared to the population data. Moreover, we observed excess of male births from donor cell pregnancies (male-to-female ratio 2.5 vs. 0.97; OR 2.57; 95% CI 1.02-6.36; P = 0.043). Maternal age (36.7 vs. 30.2; P < 0.0001) and preterm deliveries (64% vs. 38%; P = 0.046) distinguished donor cell gestations from other pregnancies with preeclampsia. These results support foreign fetal antigens as modulators of preeclampsia.
  • 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)
  • Ronkko, R; Hirvonen, E; Malila, N; Kilpivaara, O; Wartiovaara-Kautto, U; Pitkaniemi, J (2021)
    Population-based studies on familial aggregation of haematological malignancies (HM) have rarely focused specifically on early-onset HMs. We estimated standardized incidence ratios (SIR) and cumulative risks of relatives with Hodgkin lymphoma (HL), non-Hodgkin lymphomas (NHL), acute lymphoblastic leukaemia/lymphoma (ALL/LBL) and acute myeloid leukaemia (AML) when index persons and relatives were diagnosed with early-onset HM. A total of 8791 patients aged
  • 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)
  • Junno, Juho-Antti; Keisu, Asla; Niinimäki, Maarit; Niinimäki, Jaakko; Lehenkari, Petri; Oura, Petteri (2022)
    Gestation increases the biomechanical loading of lower extremities. Gestational loading may influence anthropometrics of articular surfaces in similar means as bone diaphyseal properties. This study aimed to investigate whether gravidity (i.e. number of pregnancies) and parity (i.e. number of deliveries) is associated with knee breadth among middle-aged women. The study sample comprised 815 women from the Northern Finland Birth Cohort 1966. The median parity count of our sample was 2 and the median gravidity count 3. At the age of 46, questionnaires were used to enquire gravidity and parity, and posteroanterior knee radiographs were used to obtain two knee breadth parameters (tibial plateau mediolateral breadth (TPML) and femoral condylar mediolateral breadth (FCML)) as representatives of articular size. The associations of gravidity and parity with knee breadth were analyzed using general linear models with adjustments for height, weight, leisure-time physical activity, smoking, and education years. Individuals with osteoarthritic changes were excluded from our sample. The mean TPML in our sample was 70.3 mm and the mean FCML 71.6 mm respectively. In the fully adjusted models, gravidity and parity showed positive associations with knee breadth. Each pregnancy was associated with 0.11–0.14% larger knee breath (p < 0.05), and each delivery accounted for an increase of 0.20% in knee breadth (p < 0.01). Between-group comparisons showed that multiparous women had 0.68–1.01% larger knee breath than nulli- and primiparous women (p < 0.05). Pregnancies and deliveries seem to increase the mediolateral breadth of the knee. This increase is potentially associated with increased biomechanical loadings during gestation.
  • 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.
  • Int PSC Study Grp; Bergquist, Annika; Weismueller, Tobias J.; Levy, Cynthia; Isoniemi, Helena; Arola, Johanna; Färkkilä, Martti; Lenzen, Henrike (2023)
    Background & Aims Evidence for the benefit of scheduled imaging for early detection of hepatobiliary malignancies in primary sclerosing cholangitis (PSC) is limited. We aimed to compare different follow-up strategies in PSC with the hypothesis that regular imaging improves survival. Methods We collected retrospective data from 2975 PSC patients from 27 centres. Patients were followed from the start of scheduled imaging or in case of clinical follow-up from 1 January 2000, until death or last clinical follow-up alive. The primary endpoint was all-cause mortality. Results A broad variety of different follow-up strategies were reported. All except one centre used regular imaging, ultrasound (US) and/or magnetic resonance imaging (MRI). Two centres used scheduled endoscopic retrograde cholangiopancreatography (ERCP) in addition to imaging for surveillance purposes. The overall HR (CI95%) for death, adjusted for sex, age and start year of follow-up, was 0.61 (0.47-0.80) for scheduled imaging with and without ERCP; 0.64 (0.48-0.86) for US/MRI and 0.53 (0.37-0.75) for follow-up strategies including scheduled ERCP. The lower risk of death remained for scheduled imaging with and without ERCP after adjustment for cholangiocarcinoma (CCA) or high-grade dysplasia as a time-dependent covariate, HR 0.57 (0.44-0.75). Hepatobiliary malignancy was diagnosed in 175 (5.9%) of the patients at 7.9 years of follow-up. Asymptomatic patients (25%) with CCA had better survival if scheduled imaging had been performed. Conclusions Follow-up strategies vary considerably across centres. Scheduled imaging was associated with improved survival. Multiple factors may contribute to this result including early tumour detection and increased endoscopic treatment of asymptomatic benign biliary strictures.
  • Lynsdale, Carly L.; Seltmann, Martin W.; Mon, Nay Oo; Aung, Htoo Htoo; Nyein, UKyaw; Htut, Win; Lahdenpera, Mirkka; Lummaa, Virpi (2022)
    Frequent social interactions, proximity to conspecifics, and group density are main drivers of infections and parasite transmissions. However, recent theoretical and empirical studies suggest that the health benefits of sociality and group living can outweigh the costs of infection and help social individuals fight infections or increase their infection-related tolerance level. Here, we combine the advantage of studying artificially created social work groups with different demographic compositions with free-range feeding and social behaviours in semi-captive Asian elephants (Elephas maximus), employed in timber logging in Myanmar. We examine the link between gastro-intestinal nematode load (strongyles and Strongyloides spp.), estimated by faecal egg counts, and three different aspects of an elephant's social world: individual solitary behaviour, work group size, and work group sex ratio. Controlling for sex, age, origin, time since last deworming treatment, year, human sampler bias, and individual identity, we found that infection by nematodes ranged from 0 to 2720 eggs/g between and within 26 male and 45 female elephants over the 4-year study period. However, such variation was not linked to any investigated measures of sociality in either males or females. Our findings highlight the need for finer-scale studies, establishing how sociality is limited by, mitigates, or protects against infection in different ecological contexts, to fully understand the mechanisms underlying these pathways. Significance statement Being social involves not only benefits, such as improved health, but also costs, including increased risk of parasitism and infectious disease. We studied the relationship between and three different sociality measures-solitary behaviour, group size, and the proportion of females to males within a group-and infection by gut nematodes (roundworms), using a unique study system of semi-captive working Asian elephants. Our system allows for observing how infection is linked to sociality measures across different social frameworks. We found that none of our social measures was associated with nematode infection in the studied elephants. Our results therefore suggest that here infection is not a large cost to group living, that it can be alleviated by the benefits of increased sociality, or that there are weak infection-sociality associations present which could not be captured and thus require finer-scale measures than those studied here. Overall, more studies are needed from a diverse range of systems that investigate specific aspects of social infection dynamics.
  • Klemetti, Miira M.; Teramo, Kari; Kautiainen, Hannu; Wasenius, Niko; Eriksson, Johan G.; Laine, Merja K. (2021)
    Objective To investigate associations between exposure to fetal hypoxia and indicators of metabolic health in young adult offspring of women with type 1 diabetes (OT1D). Methods 156 OT1D born between 7/1995 and 12/2000 at Helsinki University Hospital, Finland, were invited for follow-up between 3/2019 and 11/2019. A control group of 442 adults born from non-diabetic pregnancies, matched for date and place of birth, was obtained from the Finnish Medical Birth Register. In total, 58 OT1D and 86 controls agreed to participate. All OT1D had amniotic fluid (AF) sampled for erythropoietin (EPO) measurement within two days before delivery in order to diagnose fetal hypoxia. In total, 29 OTID had an AF EPO concentration = 14.0 mU/ml, defined as fetal hypoxia, and were categorized into the high EPO (H-EPO) group. At the age of 18-23 years, participants underwent a 2-h 75g oral glucose tolerance test (OGTT) in addition to height, weight, waist circumference, body composition, blood pressure, HbA(1c), cholesterol, triglyceride, high-sensitivity CRP and leisure-time physical activity measurements. Results Two OT1D were diagnosed with diabetes and excluded from further analyses. At young adult age, OT1D in the H-EPO group had a higher BMI than those in the L-EPO group. In addition, among female participants, waist circumference and body fat percentage were highest in the H-EPO group. In the OGTTs, the mean (SD) 2-h post-load plasma glucose (mmol/L) was higher in the H-EPO [6.50 (2.11)] than in the L-EPO [5.21 (1.10)] or control [5.67 (1.48)] offspring (p=0.009). AF EPO concentrations correlated positively with 2-h post-load plasma glucose [r=0.35 (95% CI: 0.07 to 0.62)] and serum insulin [r=0.44 (95% CI: 0.14 to 0.69)] concentrations, even after adjusting for maternal BMI, birth weight z-score, gestational age at birth and adult BMI. Control, L-EPO and H-EPO groups did not differ with regards to other assessed parameters. Conclusions High AF EPO concentrations in late pregnancy, indicating fetal hypoxia, are associated with increased adiposity and elevated post-load glucose and insulin concentrations in young adult OT1D.
  • 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.
  • Koljonen, Laura; Enlund-Cerullo, Maria; Hauta-Alus, Helena; Holmlund-Suila, Elisa; Valkama, Saara; Rosendahl, Jenni; Andersson, Sture; Pekkinen, Minna; Mäkitie, Outi (2021)
    Context: Phosphate homeostasis and its modifiers in early childhood are inadequately characterized. Objective: To determine physiological plasma phosphate concentration and modifying factors in healthy infants at 12 to 24 months of age. Design: This study included 525 healthy infants (53% girls), who participated in a randomized vitamin D intervention trial and received daily vitamin D3 supplementation of either 10 or 30 μg from age 2 weeks to 24 months. Biochemical parameters were measured at 12 and 24 months. Dietary phosphate intake was determined at 12 months. Main Outcome Measures: Plasma phosphate concentrations at 12 and 24 months of age. Results: Mean (SD) phosphate concentration decreased from 12 months (1.9±0.15 mmol/L) to 24 months (1.6±0.17 mmol/L) of age (P<0.001 for repeated measurements). When adjusted by covariates, such as body size, creatinine, serum 25-hydroxyvitamin D, intact and C-terminal fibroblast growth factor 23, mean plasma phosphate was higher in boys than girls during follow-up (P=0.019). Phosphate concentrations were similar in the vitamin D intervention groups (P>0.472 for all). Plasma iron was associated positively with plasma phosphate at both time points (B, 0.006 and 0.005; 95% CI, 0.004-0.009 and 0.002-0.008; P<0.001 at both time points, respectively). At 24 months of age, the main modifier of phosphate concentration was plasma creatinine (B, 0.007; 95% CI 0.003-0.011, P<0.001). Conclusion: Plasma phosphate concentration decreased from age 12 to 24 months. In infants and toddlers, the strongest plasma phosphate modifiers were sex, iron, and creatinine, whereas vitamin D supplementation did not modify phosphate concentrations.
  • 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 from an 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 differ 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-off point was obtained at >= 7 vs. = 4 vs.
  • Huhtakangas, Justiina; Numminen, Jussi; Pekkola, Johanna; Niemelä, Mika; Korja, Miikka (2021)
    The prevalence of unruptured intracranial aneurysms (UIAs) is around 2-3% in the general population. We hypothesized that the prevalence of small UIAs is higher among 50 to 60-year-old female smokers, since the incidence of aneurysmal subarachnoid hemorrhage (aSAH) is exceptionally high in 60 to 70-year-old female smokers. Ethics approval for this pilot study of 50 women was obtained from the hospital ethics committee. In order to minimize recruitment bias, preliminary invitation letters were sent to 50 to 60-year-old women who were known to be active smokers. Those interested in participating were further informed about the study rationale and protocol. Following written consent, participants filled a detailed questionnaire and underwent computed tomography angiography (CTA) analysis. All abnormalities were recorded. Of the 158 preliminary invitation letters, 70 potential participants initially replied. Of these, 50 returned questionnaires and written consents, 43 of which underwent CTA analysis. Most (39; 91%) were postmenopausal, and 9 (21%) were hypertensive. Two reported a family history (>= 1 first-degree members) of intracranial aneurysms. UIAs (maximum sizes of 2, 2, 3, 3 and 7 mm) were found in five (12%) female smokers. One woman was operated on, and the remaining four were treated with non-invasive preventive actions (smoking cessation and follow-ups). Small UIAs, which may be best suited for non-invasive preventive actions, may be relatively common in 50 to 60-year-old female smokers. Whether this kind of targeted screening leads to improved health in female smokers requires further investigation.