{"doi":"10.17615/vz97-xy60","title":"Comprehensive Association Study of Type 2 Diabetes and Related Quantitative Traits With 222 Candidate Genes","abstract":"OBJECTIVE—Type 2 diabetes is a common complex disorder with environmental and genetic components. We used a candidate gene–based approach to identify single nucleotide polymorphism (SNP) variants in 222 candidate genes that influence susceptibility to type 2 diabetes.RESEARCH DESIGN AND METHODS—In a case-control study of 1,161 type 2 diabetic subjects and 1,174 control Finns who are normal glucose tolerant, we genotyped 3,531 tagSNPs and annotation-based SNPs and imputed an additional 7,498 SNPs, providing 99.9% coverage of common HapMap variants in the 222 candidate genes. Selected SNPs were genotyped in an additional 1,211 type 2 diabetic case subjects and 1,259 control subjects who are normal glucose tolerant, also from Finland.RESULTS—Using SNP- and gene-based analysis methods, we replicated previously reported SNP-type 2 diabetes associations in PPARG, KCNJ11, and SLC2A2; identified significant SNPs in genes with previously reported associations (ENPP1 [rs2021966, P = 0.00026] and NRF1 [rs1882095, P = 0.00096]); and implicated novel genes, including RAPGEF1 (rs4740283, P = 0.00013) and TP53 (rs1042522, Arg72Pro, P = 0.00086), in type 2 diabetes susceptibility.CONCLUSIONS—Our study provides an effective gene-based approach to association study design and analysis. One or more of the newly implicated genes may contribute to type 2 diabetes pathogenesis. Analysis of additional samples will be necessary to determine their effect on susceptibility.","journal":"UNC Libraries","year":2020,"id":109513,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":10,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.6414,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":523234,"name":"A. U. Jackson","orcid":null,"position":1,"is_corresponding":false},{"id":523235,"name":"M. Tong","orcid":null,"position":2,"is_corresponding":false},{"id":523236,"name":"N. Narisu","orcid":null,"position":3,"is_corresponding":false},{"id":14723,"name":"Cristen J. Willer","orcid":"0000-0001-5645-4966","position":4,"is_corresponding":false},{"id":523237,"name":"E. W. Pugh","orcid":null,"position":5,"is_corresponding":false},{"id":523238,"name":"F. S. Collins","orcid":null,"position":6,"is_corresponding":false},{"id":523239,"name":"K. N. Conneely","orcid":null,"position":7,"is_corresponding":false},{"id":113031,"name":"G. R. Abecasis","orcid":null,"position":8,"is_corresponding":false},{"id":523240,"name":"K. F. Doheny","orcid":null,"position":9,"is_corresponding":false},{"id":523241,"name":"J. Tuomilehto","orcid":null,"position":10,"is_corresponding":false},{"id":523242,"name":"T. T. Valle","orcid":null,"position":11,"is_corresponding":false},{"id":522296,"name":"Yongtao Li","orcid":"0000-0003-1271-3609","position":12,"is_corresponding":false},{"id":523243,"name":"K. J. Gaulton","orcid":null,"position":13,"is_corresponding":false},{"id":523244,"name":"A. G. Sprau","orcid":null,"position":14,"is_corresponding":false},{"id":523245,"name":"P. S. Chines","orcid":null,"position":15,"is_corresponding":false},{"id":522297,"name":"Juan Luo","orcid":"0000-0003-1317-1514","position":16,"is_corresponding":false},{"id":113030,"name":"M. Boehnke","orcid":null,"position":17,"is_corresponding":false},{"id":523246,"name":"K. L. Mohlke","orcid":null,"position":18,"is_corresponding":false},{"id":523247,"name":"W. L. Duren","orcid":null,"position":19,"is_corresponding":false},{"id":523248,"name":"R. N. Bergman","orcid":null,"position":20,"is_corresponding":false},{"id":240633,"name":"Lori L. Bonnycastle","orcid":"0000-0003-0663-3944","position":21,"is_corresponding":false},{"id":523233,"name":"L. J. Scott","orcid":null,"position":0,"is_corresponding":true}],"reference_count":0,"raw_metadata":null,"created_at":"2026-07-18T23:12:50.712357Z","pmid":null,"pmcid":null,"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":[]}