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Invited commentary: Gene X lifestyle interactions and complex disease traits--inferring cause and effect from observational data, sine qua non.

ABSTRACT: Observational epidemiology has made outstanding contributions to the discovery and elucidation of relations between lifestyle factors and common complex diseases such as type 2 diabetes. Recent major advances in the understanding of the human genetics of this disease have inspired studies that seek to determine whether the risk conveyed by bona fide risk loci might be modified by lifestyle factors such as diet composition and physical activity levels. A major challenge is to determine which of the reported findings are likely to represent causal interactions and which might be explained by other factors. The authors of this commentary use the Bradford-Hill criteria, a set of tried-and-tested guidelines for causal inference, to evaluate the findings of a recent study on interaction between variation at the cyclin-dependent kinase 5 regulatory subunit-associated protein 1-like 1 (CDKAL1) locus and total energy intake with respect to prevalent metabolic syndrome and hemoglobin A?(c) levels in a cohort of 313 Japanese men. The current authors conclude that the study, while useful for hypothesis generation, does not provide overwhelming evidence of causal interactions. They overview ways in which future studies of gene × lifestyle interactions might overcome the limitations that motivated this conclusion.

SUBMITTER: Franks PW

PROVIDER: S-EPMC2984255 | biostudies-literature | 2010 Nov

REPOSITORIES: biostudies-literature

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Invited commentary: Gene X lifestyle interactions and complex disease traits--inferring cause and effect from observational data, sine qua non.

Franks Paul W PW Nettleton Jennifer A JA

American journal of epidemiology 20100916 9

Observational epidemiology has made outstanding contributions to the discovery and elucidation of relations between lifestyle factors and common complex diseases such as type 2 diabetes. Recent major advances in the understanding of the human genetics of this disease have inspired studies that seek to determine whether the risk conveyed by bona fide risk loci might be modified by lifestyle factors such as diet composition and physical activity levels. A major challenge is to determine which of t ...[more]

PMID: 20847104

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Project description:Assessment of therapeutic interventions in patients with pulmonary arterial hypertension (PAH) suffers from several commonly encountered limitations: (1) patient studies are often too small and short-term to provide definitive conclusions, (2) there is a lack of a universal set of metrics to adequately assess therapy and (3) while clinical treatments focus on management of symptoms, there remain many cases of early loss of life in a seemingly arbitrary distribution. Here we provide a unified approach to assess right and left pressure relationships in PAH and pulmonary hypertension (PH) patients by developing linear models informed by the observation of Suga and Sugawa that pressure generation in the ventricle (right or left) approximately follows a single lobe of a sinusoid. We sought to identify a set of cardiovascular variables that either linearly or via a sine transformation related to systolic pulmonary arterial pressure (PAPs) and systemic systolic blood pressure (SBP). Importantly, both right and left cardiovascular variables are included in each linear model. Using non-invasively obtained cardiovascular magnetic resonance (CMR) image metrics the approach was successfully applied to model PAPs in PAH patients with an r2 of 0.89 (p < 0.05) and SBP with an r2 of 0.74 (p < 0.05). Further, the approach clarified the relationships that exist between PAPs and SBP separately for PAH and PH patients, and these relationships were used to distinguish PAH vs. PH patients with good accuracy (68%, p < 0.05). An important feature of the linear models is that they demonstrate that right and left ventricular conditions interact to generate PAPs and SBP in PAH patients, even in the absence of left-sided disease. The models predicted a theoretical right ventricular pulsatile reserve that in PAH patients was shown to be predictive of the 6 min walk distance (r2 = 0.45, p < 0.05). The linear models indicate a physically plausible mode of interaction between right and left ventricles and provides a means of assessing right and left cardiac status as they relate to PAPs and SBP. The linear models have potential to allow assessment of the detailed physiologic effects of therapy in PAH and PH patients and may thus permit cross-over of knowledge between PH and PAH clinical trials.

Project description:Importance:In peer-reviewed medical journals, authoring an invited commentary on an original article is a recognition of expertise. It has been documented that women author fewer invited publications than men do. However, it is unknown whether this disparity is due to gender differences in characteristics that are associated with invitations, such as field of expertise, seniority, and scientific output. Objective:To estimate the odds ratio (OR) of authoring an invited commentary for women compared with men who had similar expertise, seniority, and publication metrics. Design, Setting, and Participants:This matched case-control study included all medical invited commentaries published from January 1, 2013, through December 31, 2017, in English-language medical journals and multidisciplinary journals. Invited commentaries were defined as publications that cite another publication within the same journal volume and issue. Bibliometric data were obtained from Scopus. Cases were defined as corresponding authors of invited commentaries in a given journal during the study period. Controls were matched to cases based on scientific expertise by calculating a similarity index for abstracts published during the same period using natural language processing. Data analyses were conducted from March 13, 2019, through May 3, 2019. Exposure:Corresponding or sole author gender was predicted from author first name and country of origin using genderize.io. Main Outcomes and Measures:The OR for gender was estimated after adjusting for field of expertise, publication output, citation impact, and years active (ie, years since first publication), with an interaction between gender and years active. Results:The final data set included 43 235 cases across 2549 journals; there were 34 047 unique intraciting commentary authors, among whom 9072 (26.6%) were women. For researchers who had been active for the median of 19 years, the odds of invited commentary authorship were 21% lower for women (OR, 0.79 [95% CI, 0.77-0.81]; P < .001) compared with men who had similar scientific expertise, number of publications, and citation impact. For every decile increase in years active, the OR decreased by a factor of 0.97 (95% CI, 0.96-0.98; P < .001). Conclusions and Relevance:In this case-control study, women had lower odds of authoring invited commentaries than their male peers. This disparity was larger for senior researchers. Journal editors could use natural language processing of published research to widen and diversify the pool of experts considered for commentary invitations.

Dataset Information

Invited commentary: Gene X lifestyle interactions and complex disease traits--inferring cause and effect from observational data, sine qua non.

Publications

Invited commentary: Gene X lifestyle interactions and complex disease traits--inferring cause and effect from observational data, sine qua non.

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