Journal paper

Integration of single cell omics with biobank data discovers allele-specific trans effects of SREBF1 on adipocyte expression of nearly 100 genes

Sukhatme, M. G., Kar, A., Lee, S. H. T., Gelev, K. Z., Arasu, U. T., Alvarez, M., Garske, K. M., Vaittinen, M., Rajkumar, S., Das, S. S., Kaminska, D., Männistö, V., Peltoniemi, H., Heinonen, S., Säiläkivi, U., Jeong, M., Border, R., Liu, Z., Saarinen, T., Juuti, A., Sankararaman, S., Pietiläinen, K. H., Pihlajamäki, J., Kaikkonen, M. U., and Pajukanta, P.

Genome Medicine, 2026

Paper

Single-nucleus RNA sequencing of human subcutaneous adipose tissue is combined with genome-wide association and expression data from biobanks to show that a cis regulatory variant of the transcription factor gene SREBF1 changes the expression of nearly 100 genes in adipocytes in an allele-specific way, linking a single regulatory variant to abdominal obesity and type 2 diabetes risk.

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