Jenna C Carlson

PhD
  • Associate Professor
  • Faculty in Human Genetics

Contributions to Public Health

  • My research is broadly centered around uncovering the genetic, biological, and behavioral determinants of complex traits, with an emphasis on research involving diverse populations. Collectively, my research has contributed to the biological understanding of several health-related traits and has highlighted the importance of performing research in diverse populations, especially including diverse populations in imputation panels, and the utility of examining sub-phenotypes to uncover novel genetic architecture of complex traits and disorders. My collaborations include the Samoan Obesity, Lifestyle and Genetic Adaptations (OLaGA) Study Group, the Trans-Omics for Precision Medicine (TOPMed) Consortium, and the Center for Craniofacial and Dental Genetics.
  • Genetic Architecture of Cardiometabolic Health in Samoans: A barrier to including more ancestral diversity in genetic studies is the lack of an appropriate genotype imputation reference panel to use for genome-wide association studies (GWAS), especially for Pacific Islanders. To address this, I developed a genotype imputation reference panel using whole-genome sequencing of 1,285 Samoan ancestry individuals that outperforms extant panels (Carlson et al. 2023). This has facilitated numerous GWAS in cohorts with Pacific Islander ancestry, yielding novel genetic contributors to cardiometabolic health.
  • Carlson JC, Krishnan M, Liu S, Anderson KJ, Zhang JZ, Spor LM, Yapp TJ, Chiyka EA, Dikec DA, Cheng H, Naseri T, Reupena MS, Viali S, Deka R, Hawley NL, McGarvey ST, Weeks DE, Minster RL. The Soifua Manuia reference panel with 2,570 Samoan haplotypes improves genotype imputation quality among Samoans. medRxiv 2023 Oct 31:2023.10.31.23297835. doi: 10.1101/2023.10.31.23297835. PMID: 37961708; PMCID: PMC10635250.
  • Novel Genetic Architecture of Lipid Levels: I performed a GWAS of lipid levels in Samoans, which confirmed several known associations and suggested novel signals and genetic architecture (Carlson et al. 2021). Then, using the imputation panel that I developed, I identified the putative causal variant underlying one of the novel signals: a stop-gain variant in BTNL9 that confers an atherogenic lipid profile (Carlson, Krishnan, Rosenthal, et al. 2023). This discovery has uncovered new knowledge about the biological pathways involved in dyslipidemia.
  • Carlson JC, Weeks DE, Hawley NL, Sun G, Cheng, H, Naseri T, Reupena MS, Deka R, McGarvey ST*, Minster RL*. Genome-wide Association Studies in Samoans Give Insight into the Genetic Etiology of Fasting Serum Lipid Levels. J Hum Genet. 2021 Feb;66(2):111-121. doi: 10.1038/s10038-020-0816-9. Epub 2020 Aug 5. PMID: 32759990; PMCID: PMC7785639
  • Carlson JC, Krishnan M, Rosenthal SL, Russell EM, Zhang JZ, Hawley NL, Moors J, Cheng H, Dalbeth N, de Zoysa JR, Watson H, Qasim M, Murphy R, Naseri T, Reupena MS, Viali S, Stamp LK, Tuitele J, Kershaw EE, Deka R, McGarvey ST, Merriman TR, Weeks DE, Minster RL. A stop-gain variant in BTNL9 is associated with atherogenic lipid profiles. HGG Adv. 2022 Oct 12;4(1):100155. doi: 10.1016/j.xhgg.2022.100155. PMID: 36340932; PMCID: PMC9630829.
  • Characterizing the function of CREBRF: Like the stop-gain variant in BTNL9 described above, there are other population-specific variants that have been discovered in association with cardiometabolic disease in Samoans. For example, a missense variant in CREBRF is paradoxically associated with higher odds of obesity yet lower odds of diabetes (Minster et al. 2016). I have statistical analysis for several investigations exploring the impact of this CREBRF missense variant on several aspects of human trait variation through statistical modeling.  
  • Carlson JC*, Rosenthal SL*, Russell EM, Hawley NL, Sun G, Cheng H, Naseri T, Reupena MS, Tuitele J, Deka R, McGarvey ST, Weeks DE, Minster RL. A missense variant in CREBRF is associated with taller stature in Samoans. Am J Hum Biol. 2020 Nov;32(6):e23414. doi: 10.1002/ajhb.23414. Epub 2020 Mar 19. PMID: 32190945; PMCID: PMC7501196.
  • Hawley NL*, Duckham RL*, Carlson JC*, Naseri T, Reupena MS, Lameko V, Pomer A, Wetzel A, Selu M, Lupematisila V, Unasa F, Vesi L, Fatu T, Unasa S, Faasalele-Savusa K, Rivara AC, Russell E, Delany JP, Viali S, Kershaw EE, Minster RL, Weeks DE, McGarvey ST. The protective effect of rs373863828 on type 2 diabetes does not operate through a body composition pathway in adult Samoans. Obesity (Silver Spring). 2022 Dec;30(12):2468-2476. doi: 10.1002/oby.23559. Epub 2022 Oct 25. PMID: 36284436; PMCID: PMC10111239.
  • Genetics of Orofacial Clefting: Orofacial clefts (OFCs) are common birth defects with both genetic and environmental risk factors. Through collaboration with the Center for Craniofacial and Dental Genetics, I uncovered common and rare genetic associations with OFCs (Leslie, Liu, et al. 2016; Leslie, Carlson, et al. 2016; Leslie, Carlson, Shaffer, et al. 2017; Shaffer et al. 2018; Leslie, Carlson, Shaffer, et al. 2017; Carlson, et al. 2025).
  • Carlson JC, Zhang X, Erdogan-Yildirim Z, Beaty TH, Butali A, Buxó C, Gowans LJJ, Hecht J, Long RE, Moreno L, Murray JC, Orioli IM, Padilla C, Wehby GL, Feingold E, Leslie-Clarkson EJ, Weinberg S, Marazita M, Shaffer JR. Variants in CALD1, ESRP1, and RBFOX1 are associated with orofacial cleft risk. medRxiv 2025 2025.01.21.25320889; doi: 10.1101/2025.01.21.25320889. Submitted to PLOS Genetics, January 2025 (PGENETICS-D-25-0003).
  • Leslie EJ*, Carlson JC*, Shaffer JR*, Feingold E, Wehby G, Laurie CA, Jain D, Laurie CC, Doheny KF, McHenry T, Resick J, Sanchez C, Jacobs J, Emanuele B, Vieira AR, Neiswanger K, Lidral AC, Valencia-Ramirez LC, Lopez-Palacio AM, Valencia DR, Arcos-Burgos M, Czeizel AE, Field LL, Padilla CD, Cutiongco-de la Paz EM, Deleyiannis F, Christensen K, Munger RG, Lie RT, Wilcox A, Romitti PA, Castilla EE, Mereb JC, Poletta FA, Orioli IM, Carvalho FM, Hecht JT, Blanton SH, Buxó CJ, Butali A, Mossey PA, Adeyemo WL, James O, Braimah RO, Aregbesola BS, Eshete MA, Abate F, Koruyucu M, Seymen F, Ma L, de Salamanca JE, Weinberg SM, Moreno L, Murray JC, Marazita ML. A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13. Hum Mol Genet. 2016 Jul 1;25(13):2862-2872. doi: 10.1093/hmg/ddw104. Epub 2016 Mar 30. PubMed PMID: 27033726; PubMed Central PMCID: PMC5181632.
  • Genetics of Heterogeneity in Orofacial Clefting: I led research that discovered genetic contributors to OFC heterogeneity (Carlson et al. 2017) which has contributed to the understanding of orofacial clefting etiology, and developed a method for comparing and visualizing differences in the genetic effects between cleft subtypes which provides a way to identify which genes may have biological mechanism driving the formation of a cleft in general and which may be operating in a very specific fashion (Carlson et al. 2019).
  • Carlson JC, Standley J, Petrin A, Shaffer JR, Butali A, Buxó CJ, Castilla E, Christensen K, Deleyiannis FW, Hecht JT, Field LL, Garidkhuu A, Moreno Uribe LM, Nagato N, Orioli IM, Padilla C, Poletta F, Suzuki S, Vieira AR, Wehby GL, Weinberg SM, Beaty TH, Feingold E, Murray JC, Marazita ML, Leslie EJ. Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes. Genet Epidemiol. 2017 Dec;41(8):887-897. doi: 10.1002/gepi.22090. Epub 2017 Nov 10. PubMed PMID: 29124805; PubMed Central PMCID: PMC5728176.
  • Carlson JC, Anand D, Butali A, Buxo CJ, Christensen K, Deleyiannis F, Hecht JT, Moreno LM, Orioli IM, Padilla C, Shaffer JR, Vieira AR, Wehby GL, Weinberg SM, Murray JC, Beaty TH, Saadi I, Lachke SA, Marazita ML, Feingold E, Leslie EJ. A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals. Genet Epidemiol. 2019 Sep;43(6):704-716. doi: 10.1002/gepi.22214. Epub 2019 Jun 6. PubMed PMID: 31172578; PubMed Central PMCID: PMC6687557.
Education

2012 | California Polytechnic State University, San Luis Obispo, CA | BS, Applied Mathematics and Statistics
2017 | University of Pittsburgh, Pittsburgh, PA | PhD, Biostatistics

Teaching

HUGEN 2077 Genome Bioinformatics Professional Skills
HUGEN 2072 Genomic Data Pipelines and Tools
R Bootcamp Workshop Series through the Health Sciences Library System