{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Deal M"],"funding":["NIDDK NIH HHS","NHLBI NIH HHS"],"pagination":["2542-2560"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11568758"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["111(11)"],"pubmed_abstract":["Mechanisms of abdominal obesity GWAS variants have remained largely unknown. To elucidate these mechanisms, we leveraged subcutaneous adipose tissue (SAT) single nucleus RNA-sequencing and genomics data. After discovering that heritability of abdominal obesity is enriched in adipocytes, we focused on a SAT unique adipocyte marker gene, the transcription factor TBX15, and its abdominal obesity-associated deleterious missense variant, rs10494217. The allele frequency of rs10494217 revealed a north-to-south decreasing gradient, with consistent significant F<sub>ST</sub> values observed for 25 different populations when compared to Finns, a population with a history of genetic isolation. Given the role of Tbx15 in mouse thermogenesis, the frequency may have increased as an adaptation to cold i"],"journal":["American journal of human genetics"],"pubmed_title":["An abdominal obesity missense variant in the adipocyte thermogenesis gene TBX15 is implicated in adaptation to cold in Finns."],"pmcid":["PMC11568758"],"funding_grant_id":["R01 DK132775","R01 HL170604"],"pubmed_authors":["Pietilainen KH","Saarinen T","Alvarez M","Mannisto V","Heinonen S","Pajukanta P","Sailakivi U","Rajkumar S","Kaminska D","Arasu UT","Kar A","Pihlajamaki J","Kaikkonen MU","Lee SHT","van der Kolk BW","Juuti A","Laakso M","Deal M"],"additional_accession":[]},"is_claimable":false,"name":"An abdominal obesity missense variant in the adipocyte thermogenesis gene TBX15 is implicated in adaptation to cold in Finns.","description":"Mechanisms of abdominal obesity GWAS variants have remained largely unknown. To elucidate these mechanisms, we leveraged subcutaneous adipose tissue (SAT) single nucleus RNA-sequencing and genomics data. After discovering that heritability of abdominal obesity is enriched in adipocytes, we focused on a SAT unique adipocyte marker gene, the transcription factor TBX15, and its abdominal obesity-associated deleterious missense variant, rs10494217. The allele frequency of rs10494217 revealed a north-to-south decreasing gradient, with consistent significant F<sub>ST</sub> values observed for 25 different populations when compared to Finns, a population with a history of genetic isolation. Given the role of Tbx15 in mouse thermogenesis, the frequency may have increased as an adaptation to cold i","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Nov","modification":"2026-06-02T03:36:28.227Z","creation":"2025-04-04T12:01:29.662Z"},"accession":"S-EPMC11568758","cross_references":{"pubmed":["39515300"],"doi":["10.1016/j.ajhg.2024.10.001"]}}