2018 ◽  
Author(s):  
Jaime Derringer

Although correlations between personality and health are consistently observed, often the causal pathway, or even the direction of effect, is unknown. Genes provide an additional node of information which may be included to help clarify the relationship between personality and health. Genetically informative studies, whether focused on family-identified relationships or specific genotypes, provide clear benefits to disentangling causal processes. Genetic measures approach near universal reliability and validity: processes of inheritance are consistent across cultures, geography, and time, such that similar models and instruments may be applied to incredibly diverse populations. Although frequency and intercorrelations differ by ancestry background (Novembre et al., 2008) and cultural context (Tucker-Drob & Bates, 2016) may exert powerful moderating effects, fundamental form and function is consistent across all members of our species, and even many other species. Genetic sequence information is also of course highly temporally stable, and possesses temporal precedence. That is, the literal genetic sequence is lifetime-stable and comes before all other experiences. Human behavior genetic research, like most personality research, faces limitations in terms of causal inferences that may be made in the absence of experimental manipulation. But behavior genetics takes advantage of natural experiments: populations that differ in terms of genetic similarity (either inferred – such as twins – or measured – such as genotyping methods) to begin to unravel the complex influences on individual differences in personality and health outcomes.


Uro ◽  
2021 ◽  
Vol 1 (3) ◽  
pp. 108-117
Author(s):  
Henry J. Paiste ◽  
Luke Moradi ◽  
Dean G. Assimos ◽  
Kyle D. Wood ◽  
Pankaj P. Dangle

Objectives: To examine the most recent literature and published science in determining any and all possible associations between pediatric obesity and pediatric urolithiasis. Methods: Retrospective literature review of pediatric stone formers with diagnosed stone disease and all associated risk factors. Peer-reviewed, published manuscripts from the past several decades were analyzed for risk factors associated with pediatric obesity such as diet, hypertension, and renal diseases. Comparing the pediatric obesity literature with the pediatric stone forming literature, any associations and correlations were derived and analyzed. Results: Despite the existing evidence that obesity is linked to stones in adults, the evidence remains unclear whether obesity plays a role in children. Nutritional discrepancies, in the setting of the obesity epidemic, have been shown to alter the risk profile of pediatric patients. Consistent with the published literature, and lack of consistent correlation with obesity and stone disease, is the knowledge that age, gender, geography, and climate may all play a role in the onset of pediatric obesity and may also be on the causal pathway toward pediatric urolithiasis. Conclusion: The manuscript demonstrates that there are a number of risk factors, congenital or acquired, that are associated with pediatric obesity. The mechanisms responsible for these associations may be on the causal pathway toward childhood urolithiasis. These mechanisms that underlie these associations need to be further investigated.


2015 ◽  
Vol 61 (suppl 7) ◽  
pp. S745-S751 ◽  
Author(s):  
Cynthia R. Matare ◽  
Mduduzi N. N. Mbuya ◽  
Gretel Pelto ◽  
Katherine L. Dickin ◽  
Rebecca J. Stoltzfus
Keyword(s):  

2021 ◽  
Vol 15 ◽  
Author(s):  
Zhenyao Ye ◽  
Chen Mo ◽  
Song Liu ◽  
Kathryn S. Hatch ◽  
Si Gao ◽  
...  

Tobacco smoking is an addictive behavior that supports nicotine dependence and is an independent risk factor for cancer and other illnesses. Its neurogenetic mechanisms are not fully understood but may act through alterations in the cerebral white matter (WM). We hypothesized that the vertical pleiotropic pathways, where genetic variants influence a trait that in turn influences another trait, link genetic factors, integrity of cerebral WM, and nicotine addiction. We tested this hypothesis using individual genetic factors, WM integrity measured by fractional anisotropy (FA), and nicotine dependence-related smoking phenotypes, including smoking status (SS) and cigarettes per day (CPDs), in a large epidemiological sample collected by the UK Biobank. We performed a genome-wide association study (GWAS) to identify previously reported loci associated with smoking behavior. Smoking was found to be associated with reduced WM integrity in multiple brain regions. We then evaluated two competing vertical pathways: Genes → WM integrity → Smoking versus Genes → Smoking → WM integrity and a horizontal pleiotropy pathway where genetic factors independently affect both smoking and WM integrity. The causal pathway analysis identified 272 pleiotropic single-nucleotide polymorphisms (SNPs) whose effects on SS were mediated by FA, as well as 22 pleiotropic SNPs whose effects on FA were mediated by CPD. These SNPs were mainly located in important susceptibility genes for smoking-induced diseases NCAM1 and IREB2. Our findings revealed the role of cerebral WM in the maintenance of the complex addiction and provided potential genetic targets for future research in examining how changes in WM integrity contribute to the nicotine effects on the brain.


2021 ◽  
Author(s):  
Krishna Rao ◽  
Alieysa Patel ◽  
Anna Maria Seekatz ◽  
Christine Bassis ◽  
Yuang Sun ◽  
...  

Background: Epidemiologic studies have linked antibiotic exposure to subsequent sepsis, suggesting that microbiome disruption may be in the causal pathway and an independent risk factor. This study tests whether variation in the gut microbiota associates with risk of sepsis onset and its outcomes. Methods: Using a validated surveillance definition, patients with an archived rectal swab from intensive care and hematology units were screened for sepsis. After confirmation by chart review, cases were matched to controls in a 1:2 ratio based on age, gender, and collection date. Relative taxon abundance was measured by sequence analysis of 16S rRNA gene amplicons; total bacterial abundance was measured by qPCR of the 23S rRNA gene. Conditional logistic regression identified clinical and microbiota variables associated with sepsis. Results: There were 103 sepsis cases matched to 206 controls. In a final model adjusting for exposure to broad-spectrum antibiotics and indwelling vascular catheters, high relative abundance (RA) of Enterococcus (Odds Ratio (OR) 1.36 per 10% increase, P=.016) and high total bacterial abundance (OR 1.50 per 10-fold increase in 23S copies/µL, P =.001) were independently associated with sepsis. Decreased RA of butyrate-producing bacteria also independently associated with sepsis (OR 1.20 for 10% decrease in RA, P =.041), and mortality in unadjusted analysis (OR=1.47 for 10% decrease in RA, P=.034). Conclusions: This study indicates that the microbiota is altered at sepsis onset. The decreased RA of butyrate-producing bacteria in sepsis also associates with mortality, suggesting a therapeutic role for prebiotics and probiotics in the prevention and treatment of sepsis.


2020 ◽  
Vol 63 (3) ◽  
pp. 793-813 ◽  
Author(s):  
Mabel L. Rice ◽  
Catherine L. Taylor ◽  
Stephen R. Zubrick ◽  
Lesa Hoffman ◽  
Kathleen K. Earnest

Purpose Early language and speech acquisition can be delayed in twin children, a twinning effect that diminishes between 4 and 6 years of age in a population-based sample. The purposes of this study were to examine how twinning effects influence the identification of children with language impairments at 4 and 6 years of age, comparing children with specific language impairment (SLI) and nonspecific language impairment (NLI); the likelihood that affectedness will be shared within monozygotic versus dizygotic twin pairs; and estimated levels of heritability for SLI and NLI. Twinning effects are predicted to result in elevated rates of language impairments in twins. Method The population-based twin sample included 1,354 children from 677 twin pairs, 214 monozygotic and 463 dizygotic, enrolled in a longitudinal study. Nine phenotypes from the same comprehensive direct behavioral assessment protocol were investigated at 4 and 6 years of age. Twinning effects were estimated for each phenotype at each age using structural equation models estimated via diagonally weighted least squares. Heritabilities were calculated for SLI and NLI. Results As predicted, the twinning effect increased the percentage of affected children in both groups across multiple language phenotypes, an effect that diminished with age yet was still not aligned to singleton age peers. Substantial heritability estimates replicated across language phenotypes and increased with age, even with the most lenient definition of affectedness, at −1 SD . Patterns of outcomes differed between SLI and NLI groups. Conclusions Nonverbal IQ is not on the same causal pathway as language impairments. Twinning effects on language acquisition affect classification of 4- and 6-year-old children as SLI and NLI, and heritability is most consistent in the SLI group. Clinical practice requires monitoring language acquisition of twins to avoid misdiagnosis when young or a missed diagnosis of language impairments at school entry.


Author(s):  
Deena Costa ◽  
Olga Yakusheva

Since the early 1990s researchers have steadily built a broad evidence base for the association between nurse staffing and patient outcomes. However, the majority of the studies in the literature employ designs that are unable to robustly examine causal pathways to meaningful improvement in patient outcomes. A focus on causal inference is essential to moving the field of nursing research forward, and as part of the essential skill-set for all nurses as consumers of research. In this article, we aim to describe the importance of causal inference in nursing research and discuss study designs that are more likely to produce causal findings. We first review the conceptual framework supporting this discussion and then use selected examples from the literature, typifying three key study designs – cross-sectional, longitudinal, and randomized control trials (RCTs). The discussion will illustrate strengths and limitation of existing evidence, focusing on the causal pathway between nurse staffing and outcomes. The article conclusion considers implications for future research.


Circulation ◽  
2012 ◽  
Vol 125 (suppl_10) ◽  
Author(s):  
Gang Hu ◽  
Yurong Zhang ◽  
Pekka Jousilahti ◽  
Yujie Wang ◽  
Riitta Antikainen ◽  
...  

Background Although hypertension is a potential intermediate factor on the causal pathway of lifestyle factor with stroke risk, the joint relationship between healthy lifestyle and antihypertensive treatment with stroke risk is unclear. Methods We prospectively investigated the individual and joint effects of healthy lifestyle factors and antihypertensive treatment on total and type-specific stroke risk among 36,686 Finnish participants who were 25 to 74 years old and free of coronary heart disease and stroke at baseline. The Cox proportional hazards model was used to evaluate the associations between healthy lifestyle factors and hypertension subgroups with stroke risk. Results During a mean follow-up of 13.7 years, 1,478 people developed an incident stroke event (1,167 ischemic and 311 hemorrhagic). The risk of stroke was significantly decreased in people adhered to ≥3 healthy lifestyle factors (never smoking, normal weight, moderate/high level of physical activity, vegetable consumption ≥3 times/week, and light/moderate alcohol drinking) compared with those adhered to <3 healthy lifestyle factors and this association was present among participants with different hypertensive status. The risk of stroke was significantly increased in all hypertensive subgroups compared with the normotensive group. Compared with hypertensive subjects who did not use antihypertensive drugs and were adhered to ≥3 healthy lifestyle factors, the multivariable-adjusted hazard ratios in hypertensive subjects who used antihypertensive drugs and were adhered to <3 healthy lifestyle factors were 1.39 (95% CI 1.04-1.86) for total stroke, 1.42 (1.03-1.97) for ischemic stroke, 1.37 (0.72-2.58) for hemorrhagic stroke in men, and 2.27 (1.71-3.01) for total stroke, 2.31 (1.69-3.16) for ischemic stroke, 2.21 (1.16-4.23) for hemorrhagic stroke in women, respectively. Only hypertensive men but not women who used antihypertensive drugs and were adhered to ≥3 healthy lifestyle factors had decreased risks of total and ischemic stroke compared with those who did not use antihypertensive drugs and were adhered to <3 healthy lifestyle factors. Conclusions The present study demonstrates our study demonstrates that a healthy lifestyle significantly decreases the risks of total, ischemic and hemorrhagic stroke in different hypertensive status in both men and women. A healthy lifestyle may be more effective in preventing stroke than antihypertensive treatment in hypertensive subjects.


2019 ◽  
Vol 3 (Supplement_1) ◽  
Author(s):  
Ines Gonzalez Casanova ◽  
Amy Webb Girard ◽  
Sakshi Mehta ◽  
Usha Ramakrishnan

Abstract Objectives Nutrition sensitive interventions (NSI), which target underlying causes of undernutrition, have been identified as essential to reduce the burden of malnutrition, which disproportionately affects women and children living in low to middle income countries. However, evaluating the impacts of NSI using anthropometry and/or biomarkers remains challenging due to lack of sensitivity. For agriculture NSI in particular, researchers increasingly recommend using indicators that assess dietary changes that lie on the causal pathway to improved biological indicators. We aimed to identify tools and indicators that can be used to assess the impact of agriculture-focused NSI on the diets of women and children. Methods Using Pubmed, Web of Science, and Agricola, we conducted a systematic search of the literature for NSI that assessed the impact on the diet of women and children (under 18 years) and were published after 2010. Twenty-three studies representing unique NSI or programs met inclusion/exclusion criteria. We systematically abstracted data from these studies into a standardized form. Results Included NSI were conducted in Sub-Saharan Africa (n = 18), South Asia (n = 3), Southeast Asia (n = 3), and Latin America (n = 1), with one conducted in three regions. The most common tools were food frequency questionnaires, 24-hour recalls, and household inventories. Dietary diversity (DD) scores were the most common indicators. These varied on the number of items and the duration of the recall period and included household DD (n = 7), women's DD (n = 5) and children's DD (n = 11); twelve studies assessed more than one outcome. Other indicators of children's diet, such as meal frequency, number of foods or food groups consumed, or minimum acceptable diet were assessed in nine NSI. Two and four studies reported nutrient intakes in women and children, respectively. Conclusions Diet assessment tools and indicators have been used successfully to assess the impact of NSI. We recommend including these measurement tools as part of the monitoring and evaluation of NSI, in particular DD was a frequently used indicator that was sensitive to the interventions. It will also be important to improve the reporting of the method used to improve interpretability and comparison across studies. Funding Sources Supported by the Bill and Melinda Gates Foundation.


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