{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["30(10)"],"submitter":["Muller YL"],"funding":["Regeneron Pharmaceuticals","Intramural Research Programme of National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health."],"pubmed_abstract":["Insulin-like growth factor binding protein 4 (IGFBP4) is involved in adipogenesis, and IGFBP4 null mice have decreased body fat through decreased PPAR-γ expression. In the current study, we assessed whether variation in the IGFBP4 coding region influences body mass index (BMI) in American Indians who are disproportionately affected by obesity. Whole exome sequence data from a population-based sample of 6779 American Indians with longitudinal measures of BMI were used to identify variation in IGFBP4 that associated with BMI. A novel variant that predicts a p.Ser76Thr in IGFBP4 (Thr-allele frequency = 0.02) was identified which associated with the maximum BMI measured during adulthood (BMI 39.8 kg/m<sup>2</sup> for Thr-allele homozygotes combined with heterozygotes vs. 36.2 kg/m<sup>2</sup> "],"journal":["European journal of human genetics : EJHG"],"pagination":["1159-1166"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9554187"],"repository":["biostudies-literature"],"pubmed_title":["Functional characterization of a novel p.Ser76Thr variant in IGFBP4 that associates with body mass index in American Indians."],"pmcid":["PMC9554187"],"pubmed_authors":["Day S","Shuldiner AR","Bogardus C","Kobes S","Koroglu C","Muller YL","Regeneron Genetics Center","Van Hout CV","Saporito M","Hanson RL","Knowler WC","Bandesh K","Baier LJ"],"additional_accession":[]},"is_claimable":false,"name":"Functional characterization of a novel p.Ser76Thr variant in IGFBP4 that associates with body mass index in American Indians.","description":"Insulin-like growth factor binding protein 4 (IGFBP4) is involved in adipogenesis, and IGFBP4 null mice have decreased body fat through decreased PPAR-γ expression. In the current study, we assessed whether variation in the IGFBP4 coding region influences body mass index (BMI) in American Indians who are disproportionately affected by obesity. Whole exome sequence data from a population-based sample of 6779 American Indians with longitudinal measures of BMI were used to identify variation in IGFBP4 that associated with BMI. A novel variant that predicts a p.Ser76Thr in IGFBP4 (Thr-allele frequency = 0.02) was identified which associated with the maximum BMI measured during adulthood (BMI 39.8 kg/m<sup>2</sup> for Thr-allele homozygotes combined with heterozygotes vs. 36.2 kg/m<sup>2</sup> ","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Oct","modification":"2026-05-28T01:59:28.571Z","creation":"2025-04-05T15:23:53.838Z"},"accession":"S-EPMC9554187","cross_references":{"pubmed":["35688891"],"doi":["10.1038/s41431-022-01129-3"]}}