{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Huang K"],"funding":["Intramural NIH HHS"],"pagination":["984-8"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC3968243"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["22(4)"],"pubmed_abstract":["<h4>Objective</h4>Few coding variants in genes associated with type 2 diabetes (T2D) have been identified, and the underlying physiologic mechanisms whereby susceptibility genes influence T2D risk are often unknown. The objective of this study was to identify coding variation that increases risk for T2D via an effect on a pre-diabetic trait.<h4>Methods</h4>Whole exome sequencing was done in 177 Pima Indians. Selected variants (N = 345) were genotyped in 555 subjects characterized for body fatness, glucose disposal rates during a clamp, acute insulin response to glucose, and 2-h plasma glucose concentrations during an OGTT, and were also genotyped in up to 5,880 subjects with longitudinal measures of BMI. Variants associated with quantitative traits were assessed for association with T2D in"],"journal":["Obesity (Silver Spring, Md.)"],"pubmed_title":["Whole exome sequencing identifies variation in CYB5A and RNF10 associated with adiposity and type 2 diabetes."],"pmcid":["PMC3968243"],"funding_grant_id":["Z99 DK999999"],"pubmed_authors":["Muller YL","Del Rosario M","Bian L","Nair AK","Hanson RL","Huang K","Bogardus C","Knowler WC","Baier LJ","Kobes S","Piaggi P"],"additional_accession":[]},"is_claimable":false,"name":"Whole exome sequencing identifies variation in CYB5A and RNF10 associated with adiposity and type 2 diabetes.","description":"<h4>Objective</h4>Few coding variants in genes associated with type 2 diabetes (T2D) have been identified, and the underlying physiologic mechanisms whereby susceptibility genes influence T2D risk are often unknown. The objective of this study was to identify coding variation that increases risk for T2D via an effect on a pre-diabetic trait.<h4>Methods</h4>Whole exome sequencing was done in 177 Pima Indians. Selected variants (N = 345) were genotyped in 555 subjects characterized for body fatness, glucose disposal rates during a clamp, acute insulin response to glucose, and 2-h plasma glucose concentrations during an OGTT, and were also genotyped in up to 5,880 subjects with longitudinal measures of BMI. Variants associated with quantitative traits were assessed for association with T2D in","dates":{"release":"2014-01-01T00:00:00Z","publication":"2014 Apr","modification":"2026-04-16T03:11:45.662Z","creation":"2019-03-27T01:24:04Z"},"accession":"S-EPMC3968243","cross_references":{"pubmed":["24151200"],"doi":["10.1002/oby.20647"]}}