CIBSS - Centre for integrative Biological Signalling Studies CIBSS

Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits

Scherer N, Fässler D, Borisov O, Cheng Y, Schlosser P, Wuttke M, Haug S, Li Y, Telkämper F, Patil S, Meiselbach H, Wong C, Berger U, Sekula P, Hoppmann A, Schultheiss UT, Mozaffari S, Xi Y, Graham R, Schmidts M, Köttgen M, Oefner PJ, Knauf F, Eckardt KU, Grünert SC, Estrada K, Thiele I, Hertel J, Köttgen A.

Nat Genet. 2025; doi: 10.1038/s41588-024-01965-7.

Allelic series of functional variants in transporters responsible for transcellular sulfate reabsorption exhibited graded effects on plasma sulfate and human height and pinpointed alleles associated with increased odds of diverse musculoskeletal traits and diseases in the population.