Jenna C Carlson

Jenna C Carlson, PhD, is an Associate Professor in the Department of Biostatistics and Secondary Faculty in Human Genetics at the University of Pittsburgh School of Public Health. Her research focuses on uncovering genetic, biological, and behavioral determinants of complex traits, particularly in diverse populations. She has developed the Soifua Manuia genotype imputation reference panel for Pacific Islanders and investigates lipid metabolism, cardiometabolic health, and orofacial clefting.

• Collaborations: Samoan Obesity, Lifestyle and Genetic Adaptations (OLaGA) Study Group, Trans-Omics for Precision Medicine (TOPMed) Consortium, Center for Craniofacial and Dental Genetics
• Research Themes: Population-specific genetic variants, GWAS methodology, imputation panels, phenotypic heterogeneity, precision medicine, and functional validation of genetic signals.

Her work has revealed novel genetic contributors to dyslipidemia (e.g., BTNL9 stop-gain variant) and elucidated the paradoxical CREBRF variant effects in Samoans. She has also pioneered methods to analyze orofacial cleft heterogeneity through GWAS.

Scientific Contributions:

• Developed the first Samoan-specific imputation panel (Carlson et al., 2023) enabling novel GWAS discoveries
• Identified genetic modifiers of orofacial cleft phenotypes (Carlson et al., 2017, 2019)
• Validated population-specific lipid risk loci (Carlson et al., 2021, 2022)