{"id":"https://openalex.org/W4232550127","doi":"https://doi.org/10.1159/000362463","title":"Genome-Wide Association Studies in Type 2 Diabetes","display_name":"Genome-Wide Association Studies in Type 2 Diabetes","publication_year":2014,"publication_date":"2014-01-01","ids":{"openalex":"https://openalex.org/W4232550127","doi":"https://doi.org/10.1159/000362463"},"language":"en","primary_location":{"id":"doi:10.1159/000362463","doi":"https://doi.org/10.1159/000362463","is_oa":false,"landing_page_url":"https://doi.org/10.1159/000362463","pdf_url":null,"source":{"id":"https://openalex.org/S2764443867","display_name":"Frontiers in diabetes","issn_l":"0251-5342","issn":["0251-5342","1662-2995"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Diabetes","raw_type":"book-chapter"},"volume":{"id":"https://openalex.org/W2493859915","display_name":"Genetics in Diabetes"},"type":"book-chapter","indexed_in":["crossref"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5036749296","display_name":"Nicola L. Beer","orcid":"https://orcid.org/0000-0002-4964-7150","observed_orcids":["https://orcid.org/0000-0002-4964-7150"]},"institutions":[{"id":"https://openalex.org/I4210129944","display_name":"Oxford Centre for Diabetes, Endocrinology and Metabolism","ror":"https://ror.org/03myafa32","country_code":"GB","type":"facility","lineage":["https://openalex.org/I40120149","https://openalex.org/I4210129944","https://openalex.org/I4210147381"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Nicola L. Beer","raw_affiliation_strings":["Oxford Centre for Diabetes, Endocrinology & Metabolism, and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Oxford Centre for Diabetes, Endocrinology & Metabolism, and","institution_ids":["https://openalex.org/I4210129944"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5064948585","display_name":"Mark I. McCarthy","orcid":"https://orcid.org/0000-0002-4393-0510","observed_orcids":["https://orcid.org/0000-0002-4393-0510"]},"institutions":[{"id":"https://openalex.org/I4210129944","display_name":"Oxford Centre for Diabetes, Endocrinology and Metabolism","ror":"https://ror.org/03myafa32","country_code":"GB","type":"facility","lineage":["https://openalex.org/I40120149","https://openalex.org/I4210129944","https://openalex.org/I4210147381"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Mark I. McCarthy","raw_affiliation_strings":["Oxford Centre for Diabetes, Endocrinology & Metabolism, and"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Oxford Centre for Diabetes, Endocrinology & Metabolism, and","institution_ids":["https://openalex.org/I4210129944"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I4210129944"],"apc_list":null,"apc_paid":null,"fwci":3.3622,"has_fulltext":false,"cited_by_count":15,"citation_normalized_percentile":{"value":0.93339254,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":null,"issue":null,"first_page":"1","last_page":"13"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9955999851226807,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9955999851226807,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11468","display_name":"Genetic Mapping and Diversity in Plants and Animals","score":0.0017000000225380063,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11171","display_name":"Diabetes and associated disorders","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/type-2-diabetes","display_name":"type 2 diabetes","score":1.0},{"id":"https://openalex.org/keywords/susceptibility-loci","display_name":"genetic susceptibility loci","score":0.7009999752044678},{"id":"https://openalex.org/keywords/heritability","display_name":"heritability","score":0.7490000128746033},{"id":"https://openalex.org/keywords/insulin-secretion","display_name":"insulin secretion","score":0.6499999761581421},{"id":"https://openalex.org/keywords/glycemic-traits","display_name":"glycemic traits","score":0.9319999814033508},{"id":"https://openalex.org/keywords/transcription-factors","display_name":"transcription factors","score":0.7350000143051147},{"id":"https://openalex.org/keywords/cell-cycle-regulators","display_name":"cell cycle regulators","score":0.9070000052452087},{"id":"https://openalex.org/keywords/birth-weight","display_name":"birth weight","score":0.7950000166893005},{"id":"https://openalex.org/keywords/fetal-growth","display_name":"fetal growth","score":0.9829999804496765},{"id":"https://openalex.org/keywords/non-coding-regulatory-variants","display_name":"non-coding regulatory variants","score":0.7289999723434448},{"id":"https://openalex.org/keywords/rare-variant-association","display_name":"rare variant association","score":0.46399998664855957},{"id":"https://openalex.org/keywords/causal-variant-identification","display_name":"causal variant identification","score":0.5540000200271606},{"id":"https://openalex.org/keywords/pathogenesis","display_name":"pathogenesis","score":0.5720000267028809}],"concepts":[{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.872973620891571},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7316746711730957},{"id":"https://openalex.org/C186413461","wikidata":"https://www.wikidata.org/wiki/Q744727","display_name":"Genetic association","level":5,"score":0.7021510601043701},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6297496557235718},{"id":"https://openalex.org/C2777180221","wikidata":"https://www.wikidata.org/wiki/Q3025883","display_name":"Type 2 diabetes","level":3,"score":0.5235307216644287},{"id":"https://openalex.org/C97425143","wikidata":"https://www.wikidata.org/wiki/Q164786","display_name":"1000 Genomes Project","level":5,"score":0.42664164304733276},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.4041188359260559},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.329251229763031},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.29316431283950806},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.28094395995140076},{"id":"https://openalex.org/C555293320","wikidata":"https://www.wikidata.org/wiki/Q12206","display_name":"Diabetes mellitus","level":2,"score":0.21605387330055237},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.12906089425086975},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.10436299443244934}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1159/000362463","doi":"https://doi.org/10.1159/000362463","is_oa":false,"landing_page_url":"https://doi.org/10.1159/000362463","pdf_url":null,"source":{"id":"https://openalex.org/S2764443867","display_name":"Frontiers in diabetes","issn_l":"0251-5342","issn":["0251-5342","1662-2995"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Diabetes","raw_type":"book-chapter"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9537000060081482,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1963934068","https://openalex.org/W2055954518","https://openalex.org/W2074470899","https://openalex.org/W2617316722","https://openalex.org/W7098760773","https://openalex.org/W2002571048","https://openalex.org/W2087195975","https://openalex.org/W4252195770","https://openalex.org/W2001564098","https://openalex.org/W2521023638"],"abstract_inverted_index":{"Genome-wide":[0],"association":[1,168],"studies":[2,47],"(GWAS)":[3],"provide":[4],"important":[5],"insights":[6],"into":[7],"type":[8],"2":[9],"diabetes":[10],"(T2D)":[11],"pathogenesis.":[12],"The":[13],"common":[14,68,81,156,197],"variant":[15,82,157,186,198],"GWAS":[16,46,158,199],"approach":[17],"enables":[18],"capture":[19],"of":[20,43,57,61,70,92,181],"disease":[21,96],"risk-associated":[22],"sequence":[23],"variation":[24,94,127],"on":[25],"a":[26,41,54],"previously":[27],"unachievable":[28],"scale,":[29],"implicating":[30],"roughly":[31],"70":[32,80],"genomic":[33],"regions":[34],"in":[35,48,95,128,147,188],"T2D":[36,62,103,108],"predisposition.":[37],"Data":[38],"gathered":[39],"from":[40],"variety":[42],"approaches,":[44],"including":[45],"diverse":[49],"ethnic":[50],"groups,":[51],"indicate":[52],"that":[53,73],"substantial":[55],"proportion":[56],"the":[58,79,149,162,178],"heritable":[59],"component":[60],"risk":[63],"is":[64],"attributable":[65],"to":[66,107,142,183,195,201],"causal":[67,150],"variants":[69,151],"small":[71],"effect":[72],"are":[74,111,191],"shared":[75],"across":[76],"populations.":[77],"Whilst":[78],"signals":[83,159,169,187,200],"detected":[84],"at":[85],"genome-wide":[86],"significance":[87],"account":[88],"for":[89,113],"only":[90,121],"5-10%":[91],"overall":[93],"predisposition,":[97],"their":[98],"discovery":[99],"infers":[100],"much":[101],"about":[102],"pathophysiology.":[104],"Genes":[105],"mapping":[106],"susceptibility":[109],"loci":[110],"enriched":[112],"transcription":[114],"factors":[115],"and":[116,135,152,177],"cell":[117],"cycle":[118],"regulators,":[119],"yet":[120],"partially":[122],"overlap":[123],"pathways":[124],"influencing":[125],"physiological":[126],"glycaemic":[129],"traits.":[130],"Most":[131],"affect":[132],"insulin":[133],"secretion,":[134],"some":[136],"influence":[137],"birthweight,":[138],"linking":[139],"intrauterine":[140],"growth":[141],"adult":[143],"metabolic":[144],"disease.":[145],"Challenges":[146],"identifying":[148],"mediating":[153],"transcripts":[154],"behind":[155],"remain.":[160],"However,":[161],"increasing":[163],"sophistication":[164],"with":[165],"which":[166],"non-coding":[167],"can":[170],"be":[171],"mapped":[172],"onto":[173],"tissue-specific":[174],"regulatory":[175],"annotations,":[176],"growing":[179],"power":[180],"efforts":[182],"detect":[184],"rare":[185],"coding":[189],"sequence,":[190],"providing":[192],"new":[193],"opportunities":[194],"link":[196],"biology.":[202]},"counts_by_year":[{"year":2023,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2014,"cited_by_count":3},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2022-05-12T00:00:00"}