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The Mohlke Lab performs human genetics research in the Department of Genetics at the University of North Carolina at Chapel Hill. We are affiliated with the Computational Medicine Program, the McAllister Heart Institute, and the Lineberger Comprehensive Cancer Center. PhD students in the Mohlke Lab are part of the Genetics and Molecular Biology (GMB) Curriculum or the Bioinformatics and Computational Biology (BCB) PhD Curriculum, part of the Biological and Biomedical Sciences Program (BBSP).

Research

Recent News

March 2025 Genome editing of TBC1D30 and proinsulin secretion paper published in Diabetologia

Victoria Parsons led use of CRISPR-based genome editing methods, including prime editing, to make gene and variant edits at a GWAS locus for proinsulin secretion and showed that TBC1D30 regulates proinsulin and insulin secretion.

January 2025 METSIM adipose RNA-seq and ATAC-seq data released in dbGaP!

Individual-level data for genotypes, metabolic traits and (bulk) adipose RNA expression levels from the same individuals can all now be accessed through dbGaP phs000743.v3.p1

January 2025 Adipose eQTL meta-analysis and GWAS colocalization paper published in Nature Genetics

Sarah Brotman identified conditionally distinct eQTL in 2,344 subcutaneous adipose tissue samples, a study we named AdipoExpress in collaboration with Julia El-Sayed Moustafa, Li Guan, Alaine Broadaway, Kerrin Small and Laura Scott and many others. Colocalization of eQTLs with GWAS signals for 28 cardiometabolic traits identified 1,835 potential target genes; including non-primary eQTL signals increased discovery of colocalizations by 46%.

November 2024  Congratulations Dr. Parsons!

Victoria Parsons successfully defended her PhD thesis in Genetics and Molecular Biology. Tori described use of CRISPR prime editing to examine GWAS loci for proinsulin levels to identify underlying genes and variants.

November 2024 Assistant Professor Kevin Currin

Congratulations to Kevin, now an Assistant Professor in the UNC Department of Genetics

October 2024 Abdalla and Sarah win prizes at the genetics retreat

Congratulations to Abdalla Alkhawaja for winning best talk from a BCB student and Sarah Lester for winning best poster from a GMB student – way to go!

September 2024 Sarah awarded F31 predoctoral fellowship

Sarah Lester was awarded an F31 fellowship from the NIH to identify genetic contributions to variation in ozone exposure response

September 2024 Liver eQTL meta-analysis paper in AJHG

Alaine Broadaway identified conditionally distinct eQTL in 1,183 liver samples and showed that isolating eQTL signals by conditional analysis prior to colocalization with GWAS resulted in 37% more colocalizations than using marginal eQTL and GWAS data

May 2024 Jon wins AMP CMD award

Congratulations to Jon Rosen for winning an Accelerating Medical Partnerships Common Metabolic Diseases poster award for his analysis of massively parallel reporter assay data

May 2024 New R01: Rare and regulatory variants for metabolic traits

With renewed funding, we will identify functional variants, genes, and adipose cell contexts for metabolic trait GWAS signals

April 2024 Welcome Kui

Welcome new Research Specialist and lab manager Kui Sun!

January 2024 Liver regulatory mechanisms paper in HGG Advances

Gautam Pandey, with contributions from Rani, Kevin, Shelley, Jayna, Jessica, and Alaine, experimentally validated regulatory activity at chromatin accessibility QTL and GWAS loci using CRISPRi and transcriptional assays. 

November 2023 Adipose cell type composition paper published in Diabetes

Sarah Brotman showed that associations between adipose gene expression levels and cardiometabolic traits are influenced by cell type composition and body mass index.

September 2023 First genome-wide association study for hidradenitis suppurativa

Alaine Broadaway co-first authored, with Quan Sun, the first GWAS paper for this common skin disorder, a collaboration with Christopher Sayed, Yun Li and others.

June 2023 New loci associated with insulin-stimulated glucose uptake

Alaine Broadaway, Shelley Moxley, Rani Vadlamudi and Emma Wilson contributed to discovery of loci for postprandial insulin resistance and showed a potential regulatory molecular mechanism at SLC2A4

March 2023 Congratulations Dr. Brotman!

Sarah Brotman successfully defended her PhD thesis in Genetics and Molecular Biology and earned a certificate in Bioinformatics and Computational Biology. Sarah described the effects of adipose tissue gene expression, isoform usage, and cell type composition on cardiometabolic traits.

March 2023 Foundation of the NIH award

With MPI Laura Scott, we will generate single nucleus RNA-seq and metabolomics data in subcutaneous adipose tissue and identify cell type expression and metabolite quantitative trait lloci

February 2023 New genetic loci for proinsulin levels published in AJHG

Alaine Broadaway, Emma Wilson, Victoria Parsons and coauthors identified and characterized loci in the largest genetic study of proinsulin levels. Shelley Moxley and Rani Vadlamudi showed a plausible islet regulatory mechanism at MADD

September 2022 Sarah wins Magnuson award

Congratulations to Sarah Brotman, who received a Terry Magnuson award given to outstanding graduating students in the Curriculum in Genetics and Molecular Biology

August 2022 SARS-CoV-2 receptor ACE2 expression levels and cardiometabolic risk

Sarah Brotman and coauthors showed that adipose expression level of ACE2 is associated with cardiometabolic trait levels and adipose cell type proportions

June 2022 Welcome new PhD students!

Welcome Abdalla Alkhawaja, a Bioinformatics and Computational Biology student co-mentored by Terry Furey; Jayna Nicholas, a Genetics and Molecular Biology student co-mentored by Laura Raffield; and Sarah Lester, a Genetics and Molecular Biology student co-mentored by Samir Kelada

May 2022 New R01: Genetics of adipose cell-type expression and cardiometabolic traits

With MPIs Paivi Pajukanta and Laura Scott, we will identify cell-type-limited expression quantitative trait loci, adipose genes relevant to cardiometabolic traits, and genetic variants responsible for cell type effects

April 2022 New R01: Regulatory genomics of ozone air pollution response

With MPI Samir Kelada, we will identify gene-by-environment interactions in response of airway brochial epithelial cells to the air pollutant ozone

February 2022 Congratulations Dr. Perrin!

Hannah Perrin successfully defended her PhD thesis in Genetics and Molecular Biology and will also earn a certificate in Bioinformatics and Computational Biology. Hannah described context-dependent regulatory mechanisms for cardiometabolic traits

January 2022 Welcome new postdoc Jon Rosen

Postdoc Jon Rosen, co-mentored by Mike Love, will lead analyses and methods development in the UNC Impact of Genomic Variation on Function project

January 2022 Adipose spliceQTL paper published in AJHG

Sarah Brotman and Chelsea Raulerson described splice junction QTL in adipose tissue, including sQTL that colocalize with cardiometabolic GWAS signals, including at NR1H3.

January 2022 Gautam awarded AHA postdoc fellowship

Gautam Pandey was awarded a fellowship from the American Heart Association to identify genetic effects on hepatic lipid metabolism and cardiovascular disease

December 2, 2021 One of Sarah Brotman’s outreach activities

The Shadow a Scientist program highlighted Sarah’s role as an ambassador

November 12, 2021 Chancellor’s Science Scholar research profile

Undergraduate Abi Rohy’s research was highlighted by the Chancellor’s Science Scholar program. See the article here.

October 26, 2021 PLoS Genetics paper: Chromatin accessibility during adipocyte differentiation

Hannah Perrin and Kevin Currin described changes of accessible chromatin and gene expression levels during adipocyte differentiation. They identified GWAS variants in differentially accessible regions and demonstrated context-dependent effects on transcriptional activity.

September 1, 2021 Impact of Genomic Variation on Function

With MPIs Hyejung Won and Michael Love, we will join NHGRI’s new IGVF consortium as a characterization center. We will investigate the regulatory consequences of GWAS variants, examining effects of tissue, sex, and environmental perturbation. Many other collaborators include Yun Li and Bev Koller in the UNC Department of Genetics.

May 31, 2021 Glycemic trait GWAS published in Nature Genetics

With many co-authors from MAGIC and co-first author Cassie Spracklen, we identified and characterized loci for fasting glucose, fasting insulin, 2-hour glucose and hemoglobin A1c through trans-ancestry GWAS meta-analysis.

May 25, 2021 Liver chromatin accessibility QTL paper published in AJHG

Kevin Currin described liver caQTL, linked peaks to genes, and performed colocalization with eQTL and GWAS loci. Collaborators include Michael Erdos and Francis Collins at NHGRI.