{"doi":"10.2337/db20-0443","title":"The First Genome-Wide Association Study for Type 2 Diabetes in Youth: The Progress in Diabetes Genetics in Youth (ProDiGY) Consortium","abstract":"The prevalence of type 2 diabetes in youth has increased substantially, yet the genetic underpinnings remain largely unexplored. To identify genetic variants predisposing to youth-onset type 2 diabetes, we formed ProDiGY, a multiethnic collaboration of three studies (TODAY, SEARCH, and T2D-GENES) with 3,006 youth case subjects with type 2 diabetes (mean age 15.1 ± 2.9 years) and 6,061 diabetes-free adult control subjects (mean age 54.2 ± 12.4 years). After stratifying by principal component–clustered ethnicity, we performed association analyses on ∼10 million imputed variants using a generalized linear mixed model incorporating a genetic relationship matrix to account for population structure and adjusting for sex. We identified seven genome-wide significant loci, including the novel locus rs10992863 in PHF2 (P = 3.2 × 10−8; odds ratio [OR] = 1.23). Known loci identified in our analysis include rs7903146 in TCF7L2 (P = 8.0 × 10−20; OR 1.58), rs72982988 near MC4R (P = 4.4 × 10−14; OR 1.53), rs200893788 in CDC123 (P = 1.1 × 10−12; OR 1.32), rs2237892 in KCNQ1 (P = 4.8 × 10−11; OR 1.59), rs937589119 in IGF2BP2 (P = 3.1 × 10−9; OR 1.34), and rs113748381 in SLC16A11 (P = 4.1 × 10−8; OR 1.04). Secondary analysis with 856 diabetes-free youth control subjects uncovered an additional locus in CPEB2 (P = 3.2 × 10−8; OR 2.1) and consistent direction of effect for diabetes risk. In conclusion, we identified both known and novel loci in the first genome-wide association study of youth-onset type 2 diabetes.","journal":"Diabetes","year":2021,"id":151993,"datarank":1.8771248138570986,"base_score":4.3694478524670215,"endowment":4.3694478524670215,"self_citation_contribution":0.6554171778700533,"citation_network_contribution":1.2217076359870453,"self_endowment_contribution":0.6554171778700533,"citer_contribution":1.2217076359870453,"corpus_percentile":88.71354529279802,"corpus_rank":1460,"citation_count":78,"citer_count":62,"citers_with_citation_signal":53,"citers_with_endowment":53,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.8942,"is_data_producer":true,"deposit_databanks":{"figshare":["10.2337/figshare.13607852"]},"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2021-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":645954,"name":"Ling Chen","orcid":"0000-0003-1485-1626","position":1,"is_corresponding":false},{"id":470904,"name":"Jennifer N. Todd","orcid":"0000-0002-3747-634X","position":2,"is_corresponding":false},{"id":342446,"name":"Jasmin Divers","orcid":"0000-0003-0120-7620","position":3,"is_corresponding":false},{"id":331538,"name":"Samuel S. Gidding","orcid":"0000-0002-8557-7225","position":4,"is_corresponding":false},{"id":382708,"name":"Steven D. Chernausek","orcid":"0000-0002-9927-4460","position":5,"is_corresponding":false},{"id":371624,"name":"Rose Gubitosi‐Klug","orcid":"0000-0002-7376-6870","position":6,"is_corresponding":false},{"id":254437,"name":"Megan M. Kelsey","orcid":"0000-0002-0755-1951","position":7,"is_corresponding":false},{"id":447328,"name":"Rachana Shah","orcid":"0000-0001-7866-557X","position":8,"is_corresponding":false},{"id":608591,"name":"Mary Helen Black","orcid":null,"position":9,"is_corresponding":false},{"id":305437,"name":"Lynne E. Wagenknecht","orcid":"0000-0002-9980-0889","position":10,"is_corresponding":false},{"id":16116,"name":"Alisa K. Manning","orcid":"0000-0003-0247-902X","position":11,"is_corresponding":false},{"id":557682,"name":"Jason Flannick","orcid":"0000-0002-3618-795X","position":12,"is_corresponding":false},{"id":305598,"name":"Giuseppina Imperatore","orcid":"0000-0001-7074-8178","position":13,"is_corresponding":false},{"id":253982,"name":"Josep M. Mercader","orcid":"0000-0001-8494-3660","position":14,"is_corresponding":false},{"id":249641,"name":"Dana Dabelea","orcid":"0000-0001-9514-8929","position":15,"is_corresponding":false},{"id":1150,"name":"José C. Florez","orcid":"0000-0002-1730-9325","position":16,"is_corresponding":false},{"id":645953,"name":"Shylaja Srinivasan","orcid":"0000-0002-8049-6370","position":0,"is_corresponding":true}],"reference_count":27,"raw_metadata":null,"created_at":"2026-07-18T23:43:22.562252Z","pmid":"33479058","pmcid":"PMC7980197","fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}