{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Zhang X"],"funding":["BLRD VA","NCATS NIH HHS","NIBIB NIH HHS","NCRR NIH HHS","NIA NIH HHS","NIAID NIH HHS","NHLBI NIH HHS","U.S. Department of Health &amp; Human Services | NIH | Office of Extramural Research, National Institutes of Health","NIDDK NIH HHS","NHGRI NIH HHS","U.S. Department of Health & Human Services | NIH | Office of Extramural Research, National Institutes of Health (OER)","NCI NIH HHS","NINDS NIH HHS","NIAMS NIH HHS","NIGMS NIH HHS"],"pagination":["3470"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11992084"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["16(1)"],"pubmed_abstract":["Obesity is a major public health crisis associated with high mortality rates. Previous genome-wide association studies (GWAS) investigating body mass index (BMI) have largely relied on imputed data from European individuals. This study leveraged whole-genome sequencing (WGS) data from 88,873 participants from the Trans-Omics for Precision Medicine (TOPMed) Program, of which 51% were of non-European population groups. We discovered 18 BMI-associated signals (P < 5 × 10<sup>-</sup><sup>9</sup>), including two secondary signals. Notably, we identified and replicated a novel low-frequency single nucleotide polymorphism (SNP) in MTMR3 that was common in individuals of African descent. Using a diverse study population, we further identified two novel secondary signals in known BMI loci and pinpo"],"journal":["Nature communications"],"pubmed_title":["Whole genome sequencing analysis of body mass index identifies novel African ancestry-specific risk allele."],"pmcid":["PMC11992084"],"funding_grant_id":["P20 GM109036","F32 HL085989","R01 AG058921","R01 HL104135","R01 HL153460","U01 HG007416","R01 DK122503","U01 HL054509","R01 HL092301","R01 HL055673","I01 BX004821","U01 HL089897","R01 HL068959","U01 HL089856","R01 HL067348","T32 HL007055","R01 AI132476","R01 HL120393","R01 EB015611","R01 DK075787","P01 HL132825","U01 HG009088","R01 DK124097","R01 DK135938","I01 BX003362","U01 HL072524","R01 HL104608","KL2 TR002490","U01 HL054472","U01 HL054473","P30 CA008748","R01 HL093093","R01 HG010297","R01 DK 122503","P30 CA071789","R01 AR048797","U01 HL120393","R01 DK071891","R01 HL119443","M01 RR007122","P01 CA134294","K08 HL136928","R35 CA197449","R01 NS058700","T32 HL129982","R01 HL113338","R01 HL172803","U01 HL072507","R01 DK107786","R01 HL142302","I01 BX003340","R01 AI114555","R01 HL142825","R01 DK110113","R01 HL133040","U01 HL054495","R01 HL105756","U19 CA203654"],"pubmed_authors":["Cupples LA","Psaty BM","Bowden DW","Kardia SLR","Burchard EG","Chami N","Guo X","Lin X","Bielak LF","Morrison AC","Highland HM","Le Marchand L","Chasman DI","Yoneda ZT","Wiggins KL","Rodriguez-Santana J","Chang KM","Tiwari HK","Hui Q","Broome JG","He J","Garrett ME","Xu H","Justice AE","Jain D","Chavan S","Hu D","Shoemaker MB","Pankow JS","Regan EA","Hwu CM","Jackson RD","Kalyani RR","Yanek LR","Irvin MR","Chittoor G","Roden DM","LeNoir M","Chuang LM","Zhao W","Blangero J","Graff M","Naseri T","Loos RJF","Conomos MP","Minster RL","Benjamin Shoemaker M","Heard-Costa N","Smith JA","Taylor KD","Gupta S","Reiner AP","McHugh CP","Haiman C","Nouraie M","Wilson PWF","Heckbert SR","Palmer ND","Becker DM","Wilkens LR","Bis JC","Fohner AE","Kooperberg C","Carson AP","Mitchell BD","Rotter JI","Ho YL","Boerwinkle E","Rich SS","Ida Chen YD","Peters U","Curran JE","Allison MA","Telen MJ","Wang Z","Eng C","Li C","Vasan RS","Raffield LM","Freedman BI","Meyer M","Buth EJ","Chiu YF","Weeks DE","Li X","Li Z","Liu CT","Brody JA","O'Connell J","Kelly TN","Lange LA","Duggirala R","Fornage M","DeMeo DL","Du M","Ferrier KR","Ashley-Koch AE","Gordeuk VR","Wessel J","Zollner S","Hobbs BD","Hixson JE","Sitlani CM","Smith NL","Sun YV","Boorgula MP","Weiss ST","Arnett DK","Josyula NS","McDonald MN","O'Donnell CJ","Preuss MH","Heavner BD","Rao DC","Hidalgo B","Perry JA","Reupena SM","Carlson CS","Hou L","Lange EM","Zhang Y","Zhang X","NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium","Barnes KC","Chen YI","North KE"],"additional_accession":[]},"is_claimable":false,"name":"Whole genome sequencing analysis of body mass index identifies novel African ancestry-specific risk allele.","description":"Obesity is a major public health crisis associated with high mortality rates. Previous genome-wide association studies (GWAS) investigating body mass index (BMI) have largely relied on imputed data from European individuals. This study leveraged whole-genome sequencing (WGS) data from 88,873 participants from the Trans-Omics for Precision Medicine (TOPMed) Program, of which 51% were of non-European population groups. We discovered 18 BMI-associated signals (P < 5 × 10<sup>-</sup><sup>9</sup>), including two secondary signals. Notably, we identified and replicated a novel low-frequency single nucleotide polymorphism (SNP) in MTMR3 that was common in individuals of African descent. Using a diverse study population, we further identified two novel secondary signals in known BMI loci and pinpo","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Apr","modification":"2026-06-01T17:58:04.376Z","creation":"2025-06-26T03:06:09.698Z"},"accession":"S-EPMC11992084","cross_references":{"pubmed":["40216759"],"doi":["10.1038/s41467-025-58420-2"]}}