Yale researchers develop a more powerful technique for detecting disease-related genetic variants

Genome-wide association studies have been crucial for identifying genetic variants linked to diseases, yet current methods primarily focus on single nucleotide polymorphisms (SNPs) individually. This common practice is prone to errors, missing genetic variations that could contribute to disease (false negatives) on the one hand, and yielding others that cannot be repeated (likely false positives).

A new study reported by Dr. Heping Zhang, PhD, the Susan Dwight Bliss Professor of Biostatistics, and Dr. Yiran Jiang, PhD, a postdoctoral associate at Yale School of Public Health, introduces a more robust and accurate technique that synthesizes the information of SNPs in local regions and reduces both false positive and false negative errors.

The Regional Association Score (RAS) method proposed by Jiang and Zhang quantifies associations between SNPs and disease traits by converting regional SNP data into a time-series format. The RAS method applies a change point detection algorithm that Dr. Zhang originally developed for time series data monitoring of patients with HIV.

Specifically, their simulation studies show that while controlling the false discovery rate, RAS increases detection power by over 20% in complex genetic landscapes, particularly in cases where causal variants are sparse. Additionally, when applied to real genetic data from the Adolescent Brain Cognitive Development (ABCD) study, the method successfully identified regions associated with mental health traits, reinforcing its potential impact on disease research.

This study highlights an innovative step forward in genetic research as a result of the elegant use of statistical methods and theory, offering a more accurate and efficient approach for detecting disease-related genetic variants. The authors anticipate that RAS could significantly enhance genetic studies and precision medicine, paving the way for improved disease prediction and treatment strategies.

Empowering Genome-Wide Association Studies via a Visualizable Test Based on Regional Association Score (PNAS, published online February 25, 2025)

— Janice Hur

Racism-related stress linked to increased substance use among Asian sexual minority men

A new study from the Yale School of Public Health sheds light on the implications of racism-related stress on the health and well-being of Asian American sexual minority men.

The key findings reveal a noteworthy association between racism-related stress and increased substance use.

The study analyzed data from 62 Asian American sexual minority men, aged 18–34, who participated in the HIV Oral Self-Testing Infographic Experiment (HOTIE). Using the Asian American Racism-related Stress Inventory (AARRSI), researchers found that higher levels of racism-related stress were linked to greater use of cigarettes and e-cigarettes. While alcohol consumption did not show a direct correlation with racism-related stress, those who drank more than four days a week had higher stress scores than those who drank less frequently. The study reported no significant correlation between racism-related stress and general or oral health.

The study also explored attitudes toward pre-exposure prophylaxis (PrEP), an HIV prevention strategy. Although 75.8% of participants were familiar with PrEP and 90.3% approved of its use, only 6.5% were currently taking it. This gap suggests that stigma and other barriers may hinder PrEP uptake, even among those who are aware of its benefits.

The findings underscore the compounded stress faced by Asian sexual minority men, who navigate both racial and sexual minority identities. The researchers call for more comprehensive studies with larger, diverse samples to further explore these associations and inform targeted interventions. They also emphasize the need for policies that address discrimination and improve access to mental health and preventive care resources for this vulnerable population.

The study’s authors are Lauren L. Chin, Trace Kershaw, Raul U. Hernandez-Ramirez, and

S. Raquel Ramos.

Racism-related stress, health outcomes, substance use, and PrEP attitudes among Asian sexual minority men (Nature, Scientific Reports, published online on February 27, 2025)

Artificial intelligence software was used in the creation of this article.

Study looks at interplay of white-tailed deer and tick- and mosquito-borne pathogens

White-tailed deer play a critical but often overlooked role in the transmission of several tick-borne and mosquito-borne diseases that affect humans, according to a comprehensive new study published in the journal Parasites & Vectors.

The research reveals that deer serve as important hosts for ticks and mosquitoes that spread the causative pathogens for Lyme disease, ehrlichiosis, Eastern equine encephalitis, and other diseases. As deer populations have expanded across the U.S. in recent decades, so too have the geographic ranges of the disease-carrying ticks and mosquitoes.

"White-tailed deer act as reproductive hosts, reservoir hosts, and dispersal agents for ticks and mosquitoes that transmit pathogens of human health concern," said senior author Dr. Goudarz Molaei, PhD, an associate professor adjunct at the Yale School of Public Health and director of the Connecticut Agricultural Experiment Station’s Tick and Tick-borne Pathogen Surveillance Program (also known as Tick Testing Laboratory). "Understanding these ecological relationships is crucial for predicting and preventing vector-borne disease outbreaks."

Key findings include:

• Deer are reproductive hosts for blacklegged ticks and lone star ticks, which spread Lyme disease and ehrlichiosis, respectively.

• Deer serve as reservoir hosts that amplify pathogens like Ehrlichia chaffeensis and Jamestown Canyon virus.

• By carrying ticks to new areas, deer help disperse emerging pathogens like Rickettsia parkeri.

• At least nine mosquito species that can transmit Eastern equine encephalitis preferentially feed on deer.

• Deer provide blood meals for mosquito vectors of West Nile virus and La Crosse encephalitis virus.

The researchers conclude that deer play a multifaceted role in pathogen emergence and spread. They recommend increased surveillance of deer populations as sentinels for monitoring vector-borne diseases. With deer-human interactions on the rise, understanding these dynamics is critical for public health preparedness.

Public health significance of the white-tailed deer (Odocoileus virginianus) and its role in the eco- epidemiology of tick-and mosquito-borne diseases in North America (Parasites & Vectors, published online Feb. 6, 2025)

Artificial intelligence software was used in the creation of this article.