Missense variants in FRS3 affect body mass index in populations of diverse ancestries.
Jonsdottir AB, Sveinbjornsson G, Thorolfsdottir RB, Tamlander M, Tragante V, Olafsdottir T, Rognvaldsson S, Sigurdsson A, Eggertsson HP, Aegisdottir HM, Arnar DO, Banasik K, Beyter D, Bjarnason RG, Bjornsdottir G, Brunak S, Topholm Bruun M, Dowsett J, Einarsson E, Einarsson G, Erikstrup C, Fridriksdottir R, Ghouse J, Gretarsdottir S, Halldorsson GH, Hansen T, Helgadottir A, Holm PC, Ivarsdottir EV, Iversen KK, Jensen BA, Jonsdottir I, Knight S, Knowlton KU, Kristmundsdottir S, Larusdottir AE, Magnusson OT, Masson G, Melsted P, Mikkelsen C, Moore KHS, Oddsson A, Olason PI, Palsson F, Pedersen OB, Schwinn M, Sigurdsson EL, Skaftason A, Stefansdottir L, Stefansson H, Steingrimsdottir T, Sturluson A, Styrkarsdottir U, Sørensen E, Teitsdottir UD, Thorgeirsson TE, Thorisson GA, Thorsteinsdottir U, Ulfarsson MO, Ullum H, Vikingsson A, Walters GB; DBDS Genomic Consortium; Nadauld LD, Bundgaard H, Ostrowski SR, Helgason A, Halldorsson BV, Norddahl GL, Ripatti S, Gudbjartsson DF, Thorleifsson G, Steinthorsdottir V, Holm H, Sulem P, Stefansson K.
Jonsdottir AB, et al. Among authors: dowsett j.
Nat Commun. 2025 Mar 25;16(1):2694. doi: 10.1038/s41467-025-57753-2.
Nat Commun. 2025.
PMID: 40133257
Free PMC article.
We identify an intergenic 262,760 base pair deletion at the MC4R locus that associates with 4.11 kg/m(2) higher BMI per allele, likely through downregulation of MC4R. Moreover, a rare FRS3 missense variant, p.Glu115Lys, only found in individuals from Finland, associates wi …
We identify an intergenic 262,760 base pair deletion at the MC4R locus that associates with 4.11 kg/m(2) higher BMI per allele, likel …
