Assessing efficiency of fine-mapping obesity-associated variants through leveraging ancestry architecture and functional annotation using PAGE and UKBB cohorts.

Inadequate representation of non-European ancestry populations in genome-wide association studies (GWAS) has limited opportunities to isolate functional variants. Fine-mapping in multi-ancestry populations should improve the efficiency of prioritizing variants for functional interrogation. To evaluate this hypothesis, we leveraged ancestry architecture to perform comparative GWAS and fine-mapping of obesity-related phenotypes in European ancestry populations from the UK Biobank (UKBB) and multi-ancestry samples from the Population Architecture for Genetic Epidemiology (PAGE) consortium with comparable sample sizes. In the investigated regions with genome-wide significant associations for obesity-related traits, fine-mapping in our ancestrally diverse sample led to 95% and 99% credible sets (CS) with fewer variants than in the European ancestry sample. Lead fine-mapped variants in PAGE regions had higher average coding scores, and higher average posterior probabilities for causality compared to UKBB. Importantly, 99% CS in PAGE loci contained strong expression quantitative trait loci (eQTLs) in adipose tissues or harbored more variants in tighter linkage disequilibrium (LD) with eQTLs. Leveraging ancestrally diverse populations with heterogeneous ancestry architectures, coupled with functional annotation, increased fine-mapping efficiency and performance, and reduced the set of candidate variants for consideration for future functional studies. Significant overlap in genetic causal variants across populations suggests generalizability of genetic mechanisms underpinning obesity-related traits across populations.

Research Trends in Agenda-setting for Climate Change Adaptation Policy in the Public Health Sector in Korea / 예방의학회지

Many studies have been conducted to assess the health effects of climate change in Korea. However, there has been a lack of consideration regarding how the results of these studies can be applied to relevant policies. The current study aims to examine research trends at the agenda-setting stage and to review future ways in which health-related adaptation to climate change can be addressed within national public health policy. A systematic review of previous studies of the health effects of climate change in Korea was conducted. Many studies have evaluated the effect of ambient temperature on health. A large number of studies have examined the effects on deaths and cardio-cerebrovascular diseases, but a limitation of these studies is that it is difficult to apply their findings to climate change adaptation policy in the health sector. Many infectious disease studies were also identified, but these mainly focused on malaria. Regarding climate change-related factors other than ambient temperature, studies of the health effects of these factors (with the exception of air pollution) are limited. In Korea, it can be concluded that studies conducted as part of the agenda-setting stage are insufficient, both because studies on the health effects of climate change have not ventured beyond defining the problem and because health adaptation to climate change has not been set as an important agenda item. In the future, the sharing and development of relevant databases is necessary. In addition, the priority of agenda items should be determined as part of a government initiative.