Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study

The prevalence of hypertension in African Americans (AAs) is higher than in other US groups; yet, few have performed genome-wide association studies (GWASs) in AA. Among people of European descent, GWASs have identified genetic variants at 13 loci that are associated with blood pressure. It is unknown if these variants confer susceptibility in people of African ancestry. Here, we examined genome-wide and candidate gene associations with systolic blood pressure (SBP) and diastolic blood pressure (DBP) using the Candidate Gene Association Resource (CARe) consortium consisting of 8591 AAs. Genotypes included genome-wide single-nucleotide polymorphism (SNP) data utilizing the Affymetrix 6.0 array with imputation to 2.5 million HapMap SNPs and candidate gene SNP data utilizing a 50K cardiovascular gene-centric array (ITMAT-Broad-CARe [IBC] array). For Affymetrix data, the strongest signal for DBP was rs10474346 (P= 3.6 × 10−8) located near GPR98 and ARRDC3. For SBP, the strongest signal was rs2258119 in C21orf91 (P= 4.7 × 10−8). The top IBC association for SBP was rs2012318 (P= 6.4 × 10−6) near SLC25A42 and for DBP was rs2523586 (P= 1.3 × 10−6) near HLA-B. None of the top variants replicated in additional AA (n = 11 882) or European-American (n = 69 899) cohorts. We replicated previously reported European-American blood pressure SNPs in our AA samples (SH2B3, P= 0.009; TBX3-TBX5, P= 0.03; and CSK-ULK3, P= 0.0004). These genetic loci represent the best evidence of genetic influences on SBP and DBP in AAs to date. More broadly, this work supports that notion that blood pressure among AAs is a trait with genetic underpinnings but also with significant complexit

Gaining insight from future mothers : A survey of attitudes and perspectives of childbirth

Funding Information: We thank Dr. Caroline Stretton (AUT University, School of Public Health & Interdisciplinary Studies) and Dr. Jean Rankin (University of the West of Scotland, School of Health and Life Sciences) for their contribution to this article in its early inception. Not applicable. Publisher Copyright: © 2022Objective: To determine whether participant characteristics and/or birth preferences of future mothers are associated with a fear of birth. Design: A cross-sectional survey was used to determine if fear of birth could be profiled in specific participant characteristics and birth choices. Setting: Urban New Zealand university. Participants: A convenience sample of women (final n = 339) who were 20 (‘severe’) for depression on DASS-21 scale (n=11, mean CFPP=44.8, SE=1.7, p < 0.0001) were all positively associated with CFPP. Post-hoc analyses revealed that mean CFPP was higher for those that perceived birth technologies as easier, safer, necessary, and required. Conclusions: Women born outside of New Zealand and/or suffering ‘severe’ depression were more likely to have a fear of birth. Fear of birth was associated with the participants choices towards medicalised childbirth. Familiarising women with the provision of maternity care in New Zealand and identifying mental health status early could reduce fear of birth and possibly support the vaginal birth intentions of future parents.Peer reviewe

Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits

Few genome-wide association studies (GWAS) account for environmental exposures, like smoking, potentially impacting the overall trait variance when investigating the genetic contribution to obesity-related traits. Here, we use GWAS data from 51,080 current smokers and 190,178 nonsmokers (87% European descent) to identify loci influencing BMI and central adiposity, measured as waist circumference and waist-to-hip ratio both adjusted for BMI. We identify 23 novel genetic loci, and 9 loci with convincing evidence of gene-smoking interaction (GxSMK) on obesity-related traits. We show consistent direction of effect for all identified loci and significance for 18 novel and for 5 interaction loci in an independent study sample. These loci highlight novel biological functions, including response to oxidative stress, addictive behaviour, and regulatory functions emphasizing the importance of accounting for environment in genetic analyses. Our results suggest that tobacco smoking may alter the genetic susceptibility to overall adiposity and body fat distribution.Peer reviewe

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

Blood pressure is a heritable trait influenced by several biological pathways and responsive to environmental stimuli. Over one billion people worldwide have hypertension (≥140 mm Hg systolic blood pressure or  ≥90 mm Hg diastolic blood pressure). Even small increments in blood pressure are associated with an increased risk of cardiovascular events. This genome-wide association study of systolic and diastolic blood pressure, which used a multi-stage design in 200,000 individuals of European descent, identified sixteen novel loci: six of these loci contain genes previously known or suspected to regulate blood pressure (GUCY1A3-GUCY1B3, NPR3-C5orf23, ADM, FURIN-FES, GOSR2, GNAS-EDN3); the other ten provide new clues to blood pressure physiology. A genetic risk score based on 29 genome-wide significant variants was associated with hypertension, left ventricular wall thickness, stroke and coronary artery disease, but not kidney disease or kidney function. We also observed associations with blood pressure in East Asian, South Asian and African ancestry individuals. Our findings provide new insights into the genetics and biology of blood pressure, and suggest potential novel therapeutic pathways for cardiovascular disease prevention

New genetic loci link adipose and insulin biology to body fat distribution.

Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms

Search for dark matter produced in association with bottom or top quarks in √s = 13 TeV pp collisions with the ATLAS detector

A search for weakly interacting massive particle dark matter produced in association with bottom or top quarks is presented. Final states containing third-generation quarks and miss- ing transverse momentum are considered. The analysis uses 36.1 fb−1 of proton–proton collision data recorded by the ATLAS experiment at √s = 13 TeV in 2015 and 2016. No significant excess of events above the estimated backgrounds is observed. The results are in- terpreted in the framework of simplified models of spin-0 dark-matter mediators. For colour- neutral spin-0 mediators produced in association with top quarks and decaying into a pair of dark-matter particles, mediator masses below 50 GeV are excluded assuming a dark-matter candidate mass of 1 GeV and unitary couplings. For scalar and pseudoscalar mediators produced in association with bottom quarks, the search sets limits on the production cross- section of 300 times the predicted rate for mediators with masses between 10 and 50 GeV and assuming a dark-matter mass of 1 GeV and unitary coupling. Constraints on colour- charged scalar simplified models are also presented. Assuming a dark-matter particle mass of 35 GeV, mediator particles with mass below 1.1 TeV are excluded for couplings yielding a dark-matter relic density consistent with measurements

Coastal Lagoons and Climate Change: Ecological and Social Ramifications in the U.S. Atlantic and Gulf Coast Ecosystems

Lagoons are highly productive coastal features that provide a range of natural services that society values. Their setting within the coastal landscape leaves them especially vulnerable to profound physical, ecological, and associated societal disturbance from global climate change. Expected shifts in physical and ecological characteristics range from changes in flushing regime, freshwater inputs, and water chemistry to complete inundation and loss and the concomitant loss of natural and human communities. Therefore, managing coastal lagoons in the context of global climate change is critical. Although management approaches will vary depending on local conditions and cultural norms, all management scenarios will need to be nimble and to make full use of the spectrum of values through which society views these unique ecosystems. We propose that this spectrum includes pragmatic, scholarly, aesthetic, and tacit categories of value. Pragmatic values such as fishery or tourism revenue are most easily quantified and are therefore more likely to be considered in management strategies. In contrast, tacit values such as a sense of place are more difficult to quantify and therefore more likely to be left out of explicit management justifications. However, tacit values are the most influential to stakeholder involvement because they both derive from and shape individual experiences and beliefs. Tacit values underpin all categories of social values that we describe and can be expected to have a strong influence over human behavior. The articulation and inclusion of the full spectrum of values, especially tacit values, will facilitate and support nimble adaptive management of coastal lagoon ecosystems in the context of global climate change

A cross-country survey of attitudes toward childbirth technologies and interventions among university students

Problem & Aim: Cultural beliefs that equate birth technology with progress, safety and convenience contribute to widespread acceptance of childbirth technology and interventions. Little is known about attitudes towards childbirth technology and interventions among the next generation of maternity care users and whether attitudes vary by country, age, gender, childbirth fear, and other factors. Methods: Data were collected via online survey in eight countries. Students who had never had children, and who planned to have at least one child were eligible to participate. Findings: The majority of participants (n= 4569) were women (79.3%), and the median age was 22 years. More than half of students agreed that birth technology makes birth easier (55.8 %), protects babies from harm (49.1 %) and that women have a right to choose a medically non-indicated cesarean (50.8 %).Respondents who had greater acceptance of childbirth technology and interventions were from countries with higher national caesarean birth rates, reported higher levels of childbirth fear, and were more likely to report that visual media or school-based education shaped their attitudes toward birth. Positive attitudes toward childbirth technology and interventions were also associated with less confidence in knowledge of birth, and more common among younger and male respondents. Discussion/Conclusion: Educational strategies to teach university students about pregnancy and birth in ways that does not frighten them and promotes critical reflection about childbirth technology are needed. This is especially true in countries with high rates of interventions that reciprocally shape culture norms, attitudes, and expectations