scholarly journals Population frequencies of vkorc1 c1173t polymorphism, which determining the organism sensitivity to warfarin, in forest nenets and nganasans of northern siberia

Author(s):  
Р.П. Тийс ◽  
Л.П. Осипова ◽  
Е.Н. Воронина ◽  
М.Л. Филипенко

Полиморфизм C1173T гена VKORC1 является одним из ключевых факторов, определяющих как этнические, так и индивидуальные различия в чувствительности к антикоагулянту варфарину и его поддерживающей дозе у пациентов при лечении тромбозозависимых заболеваний. В связи с этим, на популяционном уровне проведено исследование полиморфизма VKORC1 C1173T среди коренных представителей лесных ненцев Ямало-Ненецкого автономного округа и нганасан полуострова Таймыр Красноярского края. Генотипирование однонуклеотидных замен в гене VKORC1 проводилось в режиме реального времени с использованием конкурирующих TaqMan-зондов. Выявлено, что вариант VKORC1 1173T встречается с высокой частотой в изученных популяциях: 67% у лесных ненцев и 94% у нганасан. Этот показатель существенно и статистически значимо выше, чем у европейцев, и имеет схожий характер распространения с таковым у азиатов Китая и Японии. Результаты нашего исследования расширяют знания о полиморфизме гена VKORC1 в человеческих популяциях, а также способствуют развитию персонализированной медицины по отношению к коренным жителям Сибири, так как генетический статус человека, имеющего вариант 1173T, может учитываться в целях достижения максимально безопасной и эффективной терапии варфарином при тромбозозависимых заболеваниях. Polymorphism C1173T of the VKORC1 gene is one of the key factors determining both ethnic and individual differences in the sensitivity to the anticoagulant warfarin and its maintenance dose in patients in the treatment of thrombosis-dependent diseases. In this regard, at the population level the VKORC1 C1173T polymorphism was studied in indigenous populations of the Forest Nenets (the Yamal-Nenets Autonomous Okrug) and Nganasans (the Taimyr Peninsula of the Krasnoyarsk region). Genotyping of C1173T single nucleotide substitution in the VKORC1 gene was carried out in real time using competing TaqMan probes. It was revealed that the variant VKORC1 1173T occurs with a high frequency in the studied populations: 67% in Forest Nenets and 94% in Nganasans. This indicator is significantly higher than that of Europeans, and has a similar distribution pattern with that of Asians. The results of our study expand knowledge about VKORC1 gene polymorphism in human populations, and also promote the development of personalized medicine in relation to indigenous people of Siberia, since the genetic status of a person with variant 1173T can be taken into account at an individual level in order to achieve the most safe and effective warfarin therapy of thrombosis-dependent diseases.

2018 ◽  
Vol 15 (144) ◽  
pp. 20180035 ◽  
Author(s):  
Cody T. Ross ◽  
Monique Borgerhoff Mulder ◽  
Seung-Yun Oh ◽  
Samuel Bowles ◽  
Bret Beheim ◽  
...  

Monogamy appears to have become the predominant human mating system with the emergence of highly unequal agricultural populations that replaced relatively egalitarian horticultural populations, challenging the conventional idea—based on the polygyny threshold model—that polygyny should be positively associated with wealth inequality. To address this polygyny paradox, we generalize the standard polygyny threshold model to a mutual mate choice model predicting the fraction of women married polygynously. We then demonstrate two conditions that are jointly sufficient to make monogamy the predominant marriage form, even in highly unequal societies. We assess if these conditions are satisfied using individual-level data from 29 human populations. Our analysis shows that with the shift to stratified agricultural economies: (i) the population frequency of relatively poor individuals increased, increasing wealth inequality, but decreasing the frequency of individuals with sufficient wealth to secure polygynous marriage, and (ii) diminishing marginal fitness returns to additional wives prevent extremely wealthy men from obtaining as many wives as their relative wealth would otherwise predict. These conditions jointly lead to a high population-level frequency of monogamy.


2021 ◽  
Vol 12 ◽  
Author(s):  
Stephen Treaster ◽  
David Karasik ◽  
Matthew P. Harris

With the modern quality, quantity, and availability of genomic sequencing across species, as well as across the expanse of human populations, we can screen for shared signatures underlying longevity and lifespan. Knowledge of these mechanisms would be medically invaluable in combating aging and age-related diseases. The diversity of longevities across vertebrates is an opportunity to look for patterns of genetic variation that may signal how this life history property is regulated, and ultimately how it can be modulated. Variation in human longevity provides a unique window to look for cases of extreme lifespan within a population, as well as associations across populations for factors that influence capacity to live longer. Current large cohort studies support the use of population level analyses to identify key factors associating with human lifespan. These studies are powerful in concept, but have demonstrated limited ability to resolve signals from background variation. In parallel, the expanding catalog of sequencing and annotation from diverse species, some of which have evolved longevities well past a human lifespan, provides independent cases to look at the genomic signatures of longevity. Recent comparative genomic work has shown promise in finding shared mechanisms associating with longevity among distantly related vertebrate groups. Given the genetic constraints between vertebrates, we posit that a combination of approaches, of parallel meta-analysis of human longevity along with refined analysis of other vertebrate clades having exceptional longevity, will aid in resolving key regulators of enhanced lifespan that have proven to be elusive when analyzed in isolation.


2015 ◽  
Vol 370 (1669) ◽  
pp. 20140105 ◽  
Author(s):  
Mark Schaller ◽  
Damian R. Murray ◽  
Adrian Bangerter

The ‘behavioural immune system’ is composed of mechanisms that evolved as a means of facilitating behaviours that minimized infection risk and enhanced fitness. Recent empirical research on human populations suggests that these mechanisms have unique consequences for many aspects of human sociality—including sexual attitudes, gregariousness, xenophobia, conformity to majority opinion and conservative sociopolitical attitudes. Throughout much of human evolutionary history, these consequences may have had beneficial health implications; but health implications in modern human societies remain unclear. This article summarizes pertinent ways in which modern human societies are similar to and different from the ecologies within which the behavioural immune system evolved. By attending to these similarities and differences, we identify a set of plausible implications—both positive and negative—that the behavioural immune system may have on health outcomes in contemporary human contexts. We discuss both individual-level infection risk and population-level epidemiological outcomes. We also discuss a variety of additional implications, including compliance with public health policies, the adoption of novel therapeutic interventions and actual immunological functioning. Research on the behavioural immune system, and its implications in contemporary human societies, can provide unique insights into relationships between fitness, sociality and health.


2018 ◽  
Author(s):  
Edmund W. J. Lee ◽  
Han Zheng ◽  
Htet Htet Aung ◽  
Megha Rani Aroor ◽  
Chen Li ◽  
...  

BACKGROUND Promoting safety and health awareness and mitigating risks are of paramount importance to companies in high-risk industries. Yet, there are very few studies that have synthesized findings from existing online workplace safety and health literature to identify what are the key factors that are related to (a) safety awareness, (b) safety risks, (c) health awareness, and (d) health risks. OBJECTIVE As one of the first systematic reviews in the area of workplace health and safety, this study aims to identify the factors related to safety and health awareness as well as risks, and systematically map these factors within three levels: organizational, cultural, and individual level. Also, this review aims to assess the impact of these workplace safety and health publications in both academic (e.g., academic databases, Mendeley, and PlumX) and non-academic settings (e.g., social media platform). METHODS The systematic review was conducted in line with procedures recommended by Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA). First, Proquest, ScienceDirect and Scopus were identified as suitable databases for the systematic review. Second, after inputting search queries related to safety and health awareness and risks, the articles were evaluated based on a set of inclusion and exclusion criteria. Third, the factors identified in the included articles were coded systematically. Fourth, the research team assessed the impact of the articles through a combination of traditional and new metric analysis methods: citation count, Altmetric Attention Score, Mendeley readers count, usage count, and capture count. RESULTS Out of a total of 4,831 articles retrieved from the three databases, 51 articles were included in the final sample and were systematically coded. The results revealed six categories of organizational (management commitment, management support, organizational safety communication, safety management systems, physical work environment, and organizational environment), two cultural (interpersonal support and organizational culture), and four individual (perception, motivation, attitude and behavior) level factors that relate to safety and health awareness and risk. In terms of impact, the relationship between citation count and the various metrics measuring academic activity (e.g., Mendeley readers, usage count, and capture count) were mostly significant while the relationship between citation count and Altmetric Attention Score was non-significant. CONCLUSIONS This study provides a macro view of the current state of workplace safety and health research and gives scholars an indication on some of the key factors of safety and health awareness and risks. Researchers should also be cognizant that while their work may receive attention from the scholarly community, it is important to tailor their communication messages for the respective industries they are studying to maximize the receptivity and impact of their findings. CLINICALTRIAL N.A.


2021 ◽  
Vol 34 (3) ◽  
pp. 234-241
Author(s):  
Norrina B Allen ◽  
Sadiya S Khan

Abstract High blood pressure (BP) is a strong modifiable risk factor for cardiovascular disease (CVD). Longitudinal BP patterns themselves may reflect the burden of risk and vascular damage due to prolonged cumulative exposure to high BP levels. Current studies have begun to characterize BP patterns as a trajectory over an individual’s lifetime. These BP trajectories take into account the absolute BP levels as well as the slope of BP changes throughout the lifetime thus incorporating longitudinal BP patterns into a single metric. Methodologic issues that need to be considered when examining BP trajectories include individual-level vs. population-level group-based modeling, use of distinct but complementary BP metrics (systolic, diastolic, mean arterial, mid, and pulse pressure), and potential for measurement errors related to varied settings, devices, and number of readings utilized. There appear to be very specific developmental periods during which divergent BP trajectories may emerge, specifically adolescence, the pregnancy period, and older adulthood. Lifetime BP trajectories are impacted by both individual-level and community-level factors and have been associated with incident hypertension, multimorbidity (CVD, renal disease, cognitive impairment), and overall life expectancy. Key unanswered questions remain around the additive predictive value of BP trajectories, intergenerational contributions to BP patterns (in utero BP exposure), and potential genetic drivers of BP patterns. The next phase in understanding BP trajectories needs to focus on how best to incorporate this knowledge into clinical care to reduce the burden of hypertensive-related outcomes and improve health equity.


2021 ◽  
Vol 13 (1) ◽  
pp. 368
Author(s):  
Dillon T. Fitch ◽  
Hossain Mohiuddin ◽  
Susan L. Handy

One way cities are looking to promote bicycling is by providing publicly or privately operated bike-share services, which enable individuals to rent bicycles for one-way trips. Although many studies have examined the use of bike-share services, little is known about how these services influence individual-level travel behavior more generally. In this study, we examine the behavior of users and non-users of a dockless, electric-assisted bike-share service in the Sacramento region of California. This service, operated by Jump until suspended due to the coronavirus pandemic, was one of the largest of its kind in the U.S., and spanned three California cities: Sacramento, West Sacramento, and Davis. We combine data from a repeat cross-sectional before-and-after survey of residents and a longitudinal panel survey of bike-share users with the goal of examining how the service influenced individual-level bicycling and driving. Results from multilevel regression models suggest that the effect of bike-share on average bicycling and driving at the population level is likely small. However, our results indicate that people who have used-bike share are likely to have increased their bicycling because of bike-share.


Author(s):  
Marie Krousel-Wood ◽  
Leslie S Craig ◽  
Erin Peacock ◽  
Emily Zlotnick ◽  
Samantha O’Connell ◽  
...  

Abstract Interventions targeting traditional barriers to antihypertensive medication adherence (AHMA) have been developed and evaluated, with evidence of modest improvements in adherence. Translation of these interventions into population-level improvements in adherence and clinical outcomes among older adults remains suboptimal. From the Cohort Study of Medication Adherence among Older adults (CoSMO), we evaluated traditional barriers to AHMA among older adults with established hypertension (N=1544; mean age=76.2 years, 59.5% women, 27.9% Black, 24.1% and 38.9% low adherence by proportion of days covered (i.e., PDC<0.80) and the 4-item Krousel-Wood Medication Adherence Scale (i.e., K-Wood-MAS-4≥1), respectively), finding that they explained 6.4% and 14.8% of variance in pharmacy refill and self-reported adherence, respectively. Persistent low adherence rates, coupled with low explanatory power of traditional barriers, suggest that other factors warrant attention. Prior research has investigated explicit attitudes toward medications as a driver of adherence; the roles of implicit attitudes and time preferences (e.g., immediate versus delayed gratification) as mechanisms underlying adherence behavior are emerging. Similarly, while associations of individual-level social determinants of health (SDOH) and medication adherence are well-reported, there is growing evidence about structural SDOH and specific pathways of effect. Building on published conceptual models and recent evidence, we propose an expanded conceptual framework that incorporates implicit attitudes, time preferences and structural SDOH, as emerging determinants that may explain additional variation in objectively and subjectively measured adherence. This model provides guidance for design, implementation and assessment of interventions targeting sustained improvement in implementation medication adherence and clinical outcomes among older women and men with hypertension.


Genes ◽  
2018 ◽  
Vol 9 (12) ◽  
pp. 578 ◽  
Author(s):  
Laith AL-Eitan ◽  
Ayah Almasri ◽  
Rame Khasawneh

Warfarin is an oral anticoagulant frequently used in the treatment of different cardiovascular diseases. Genetic polymorphisms in the CYP2C9 and VKORC1 genes have produced variants with altered catalytic properties. A total of 212 cardiovascular patients were genotyped for 17 Single Nucleotide Polymorphisms (SNPs) within the CYP2C9 and VKORC1 genes. This study confirmed a genetic association of the CYP2C9*3 and VKORC1 rs10871454, rs8050894, rs9934438, and rs17708472 SNPs with warfarin sensitivity. This study also found an association between CYP2C9 and VKORC1 genetic haplotype blocks and warfarin sensitivity. The initial warfarin dose was significantly related to the CYP2C9*3 polymorphism and the four VKORC1 SNPs (p < 0.001). There were significant associations between rs4086116 SNP and TAT haplotype within CYP2C9 gene and rs17708472 SNP and CCGG haplotype within VKORC1 gene and warfarin responsiveness. However, possessing a VKORC1 variant allele was found to affect the international normalized ratio (INR) outcomes during initiation of warfarin therapy. In contrast, there was a loose association between the CYP2C9 variant and INR measurements. These findings can enhance the current understanding of the great variability in response to warfarin treatment in Arabs.


2018 ◽  
Vol 148 (12) ◽  
pp. 1946-1953 ◽  
Author(s):  
Magali Rios-Leyvraz ◽  
Pascal Bovet ◽  
René Tabin ◽  
Bernard Genin ◽  
Michel Russo ◽  
...  

ABSTRACT Background The gold standard to assess salt intake is 24-h urine collections. Use of a urine spot sample can be a simpler alternative, especially when the goal is to assess sodium intake at the population level. Several equations to estimate 24-h urinary sodium excretion from urine spot samples have been tested in adults, but not in children. Objective The objective of this study was to assess the ability of several equations and urine spot samples to estimate 24-h urinary sodium excretion in children. Methods A cross-sectional study of children between 6 and 16 y of age was conducted. Each child collected one 24-h urine sample and 3 timed urine spot samples, i.e., evening (last void before going to bed), overnight (first void in the morning), and morning (second void in the morning). Eight equations (i.e., Kawasaki, Tanaka, Remer, Mage, Brown with and without potassium, Toft, and Meng) were used to estimate 24-h urinary sodium excretion. The estimates from the different spot samples and equations were compared with the measured excretion through the use of several statistics. Results Among the 101 children recruited, 86 had a complete 24-h urine collection and were included in the analysis (mean age: 10.5 y). The mean measured 24-h urinary sodium excretion was 2.5 g (range: 0.8–6.4 g). The different spot samples and equations provided highly heterogeneous estimates of the 24-h urinary sodium excretion. The overnight spot samples with the Tanaka and Brown equations provided the most accurate estimates (mean bias: −0.20 to −0.12 g; correlation: 0.48–0.53; precision: 69.7–76.5%; sensitivity: 76.9–81.6%; specificity: 66.7%; and misclassification: 23.0–27.7%). The other equations, irrespective of the timing of the spot, provided less accurate estimates. Conclusions Urine spot samples, with selected equations, might provide accurate estimates of the 24-h sodium excretion in children at a population level. At an individual level, they could be used to identify children with high sodium excretion. This study was registered at clinicaltrials.gov as NCT02900261.


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