Clinical and Metabolic Signatures of FAM47E–SHROOM3 Haplotypes in a General Population Sample Genome-wide association studies (GWAS) identified a locus on chromosome 4q21.1, spanning the Family With Sequence Similarity 47 Member E (FAM47E), Starch Binding Domain 1 (STBD1), Coiled-Coil Domain C...

Followed by a deep investigation of the #SHROOM3 locus through WES-based #haplotypes
www.kireports.org/article/S246...

Systematic mediation and interaction analyses of kidney function genetic loci in a general population study Chronic kidney disease (CKD) is a complex disease affecting >10% of the global population, with large between- and within-continent variability reflecting major environmental determinants. To identify...

🆕 Systematic mediation & interaction analyses of kidney function genetic loci in a general population study. Finally out @dariushghasemi.bsky.social work on the value of a single population study to assess loci from global #GWAS consortia 👏
#SLC34A1 #SHROOM3 #STC1

journals.plos.org/plosone/arti...

Clinical and Metabolic Signatures of FAM47E–SHROOM3 Haplotypes in a General Population Sample Genome-wide association studies (GWAS) identified a locus on chromosome 4q21.1, spanning the Family With Sequence Similarity 47 Member E (FAM47E), Starch Binding Domain 1 (STBD1), Coiled-Coil Domain C...

Initial tests that were instrumental to build #Haplomics were applied to the #SHROOM3 locus for kidney function, revealing more complex population profiles

www.kireports.org/article/S246...

It was cool to learn so many aspects of the #SHROOM3 locus, a very pleiotropic locus, not just related to #CKD

On the #CKD side, attention should be given to #CCDC158 as well, ie: SHROOM3 not the only player here

🆕Our paper on WES-based haplotypes in the #SHROOM3 locus is finally out in @kireports.bsky.social

👏Big shoutout to @dariushghasemi.bsky.social who has led this project with passion and intuition.