Research Recap: April 11-22

A biweekly overview of recent studies published by Institute investigators and their collaborators spans a wide variety of topics, including:

Addressing non-communicable diseases through precision public health; associations of early childhood milk intake with adolescent adiposity and cardiometabolic risk; understanding the spectrum of diseases associated with hereditary cancer syndromes; and the genetics and pathogenesis of actinic keratosis.

For all faculty publications, see our Publications page. For up-to-date media coverage and research findings, visit In the Media, and follow us on Twitter. To search for a subject matter expert, visit our Investigator Directory.

Capitalizing on the global digital transformation of health to address the global threat of non-communicable diseases
Non-communicable diseases (NCDs) are a significant global health threat, affecting people of all ages and countries and contributing to 71% of all deaths globally. The emerging field of precision public health (PPH) offers a transformative opportunity to capitalize on digital health data to create an agile, responsive, and data-driven public health system to actively prevent NCDs. In a recent Frontiers in Public Health article, a team of researchers including Noelle Cocoros and Michael Klompas propose a vision toward precision public health for NCDs across three horizons of digital health transformation: 1) digital public health workflows, 2) population health data and analytics, and 3) precision public health. Authors aim to provide a high-level strategic roadmap for public health and health system professionals, policymakers, consumers and communities and researchers to translate to their local jurisdictions to help guide organizational strategy, investment, intervention design, and research. Investigators present two multinational use cases to contextualize this roadmap in pragmatic action, offering lessons learned from these use cases to guide relevant stakeholders. Authors encourage public health organizations and policymakers to capitalize on the global digital transformation of health to assist strategy, investment, intervention planning and research for PPH of NCDs, and ultimately to achieve equitable health and wellbeing for our populations.

Institute Investigator(s): Noelle Cocoros, Michael Klompas

Current guidelines recommend low-fat milk for children to reduce obesity and cardiometabolic risks later in life, but recent findings don’t support these recommendations

Prior studies have provided conflicting evidence regarding associations of pediatric milk consumption with subsequent adiposity. To investigate the associations of the frequency and fat content of early childhood milk intake with early adolescent adiposity and cardiometabolic risk, a team of researchers including Marie-France Hivert, Emily Oken, and Karen Switkowski, with lead author Caitriona McGovern and senior author Izzuddin Aris, analyzed data from 796 children in Project Viva. Results, published in the American Journal of Clinical Nutrition, found that early childhood BMI z-score was inversely associated with the fat content of milk consumed in early childhood and early childhood consumption of higher-fat milk (vs. lower-fat milk) was not associated with adverse cardiometabolic outcomes. Importantly, the frequency of cow's milk consumed in early childhood was not associated with adiposity or cardiometabolic risk in early adolescence. Authors report that these findings do not support current recommendations to consume lower-fat milk to reduce the risk of later obesity and adverse cardiometabolic outcomes.

Institute Investigator(s): Izzuddin Aris, Marie-France Hivert, Caitriona McGovern, Emily Oken, Karen Switkowski

Using Electronic Health Record data to better understand the spectrum of diseases associated with hereditary cancer syndromes
A better understanding of the spectrum of diseases associated with hereditary cancer syndromes may improve disease diagnosis and management for patients and help to identify high-risk individuals. In order to identify the range of conditions associated with hereditary cancer genes, a team of researchers including Kurt Christensen conducted a phenome-wide association study using genetic and phenotypic data from electronic health records in three cohorts comprising 214,020 participants to identify 19 new diseases and conditions associated with pathogenic variants in 13 hereditary cancer genes. These new phenotypes included both neoplastic and nonneoplastic diseases. Findings, published in JAMA Oncology, suggest that these new phenotypes associated with hereditary cancer genes may facilitate early detection and better management of cancers. Furthermore, authors cite this study as evidence for the potential benefits of using EHR data in genomic medicine.

Institute Investigator(s): Kurt Christensen

Identification of new susceptibility loci provides valuable insight into the genetics and pathogenesis of actinic keratosis

Actinic keratosis (AK) is a common precancerous skin growth found on chronically sun-exposed skin. AK susceptibility has a moderate genetic component, and although a few susceptibility loci have been identified, there are additional loci yet to be discovered. A team of researchers including lead author Yuhree Kim and senior author Maryam Asgari conducted a genome-wide association study in order to identify previously unknown loci associated with AK susceptibility. Results, published in Communications Biology, identified eleven genome-wide significant loci associated with AK, seven of which had not been previously reported. Investigators report that these novel loci harbor genes implicated in pigmentation, immune regulation, and cell signaling, providing valuable insight into the genetics and pathogenesis of AK susceptibility.

Institute Investigator(s): Maryam Asgari, Yuhree Kim

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