{"id":"https://openalex.org/W327692510","doi":null,"title":"The search for heterogeneity in insulin-dependent diabetes mellitus (IDDM): linkage studies, two-locus models, and genetic heterogeneity.","display_name":"The search for heterogeneity in insulin-dependent diabetes mellitus (IDDM): linkage studies, two-locus models, and genetic heterogeneity.","publication_year":1983,"publication_date":"1983-11-01","ids":{"openalex":"https://openalex.org/W327692510","mag":"327692510","pmid":"https://pubmed.ncbi.nlm.nih.gov/6580815","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1685977"},"language":"en","primary_location":{"id":"pmid:6580815","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/6580815","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American journal of human genetics","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"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/A5112582445","display_name":"Susan E. Hodge","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S E Hodge","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039130059","display_name":"Carol E. Anderson","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C E Anderson","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023329633","display_name":"Katherine Neiswanger","orcid":"https://orcid.org/0000-0002-1250-6813","observed_orcids":["https://orcid.org/0000-0002-1250-6813"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"K Neiswanger","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110158434","display_name":"Robert S. Sparkes","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"R S Sparkes","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5111831937","display_name":"David L. Rimoin","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"D L Rimoin","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":5.4284,"has_fulltext":false,"cited_by_count":123,"citation_normalized_percentile":{"value":0.96641087,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":87,"max":95},"biblio":{"volume":"35","issue":"6","first_page":"1139","last_page":"55"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11171","display_name":"Diabetes and associated disorders","score":0.8241999745368958,"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/T11171","display_name":"Diabetes and associated disorders","score":0.8241999745368958,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.16660000383853912,"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":0.00559999980032444,"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-1-diabetes","display_name":"type 1 diabetes","score":0.9940000176429749},{"id":"https://openalex.org/keywords/genetic-heterogeneity","display_name":"genetic heterogeneity","score":0.7730000019073486},{"id":"https://openalex.org/keywords/genetic-linkage","display_name":"genetic linkage","score":0.8209999799728394},{"id":"https://openalex.org/keywords/hla","display_name":"HLA","score":0.7960000038146973},{"id":"https://openalex.org/keywords/glyoxalase-1","display_name":"glyoxalase I","score":0.9649999737739563},{"id":"https://openalex.org/keywords/kidd-blood-group","display_name":"Kidd blood group","score":0.9760000109672546},{"id":"https://openalex.org/keywords/chromosome-6","display_name":"chromosome 6","score":0.8159999847412109},{"id":"https://openalex.org/keywords/chromosome-2","display_name":"chromosome 2","score":0.9089999794960022},{"id":"https://openalex.org/keywords/pancreatic-amylase","display_name":"pancreatic amylase","score":0.7590000033378601},{"id":"https://openalex.org/keywords/lod-score","display_name":"lod score","score":0.6790000200271606},{"id":"https://openalex.org/keywords/recombination-fraction","display_name":"recombination frequency","score":0.7960000038146973},{"id":"https://openalex.org/keywords/penetrance","display_name":"penetrance","score":0.6200000047683716}],"concepts":[{"id":"https://openalex.org/C2910653347","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Recombination Fraction","level":5,"score":0.7998385429382324},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7453630566596985},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.7251054644584656},{"id":"https://openalex.org/C200544954","wikidata":"https://www.wikidata.org/wiki/Q516389","display_name":"Penetrance","level":4,"score":0.7222890853881836},{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.6738568544387817},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.6248568296432495},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6085590720176697},{"id":"https://openalex.org/C2993098900","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Lod score","level":5,"score":0.4738740622997284},{"id":"https://openalex.org/C190789776","wikidata":"https://www.wikidata.org/wiki/Q767511","display_name":"Genetic marker","level":3,"score":0.45559361577033997},{"id":"https://openalex.org/C31266012","wikidata":"https://www.wikidata.org/wiki/Q6554340","display_name":"Linkage (software)","level":3,"score":0.45410972833633423},{"id":"https://openalex.org/C38734473","wikidata":"https://www.wikidata.org/wiki/Q5156506","display_name":"Complete linkage","level":5,"score":0.4465477466583252},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.399355411529541},{"id":"https://openalex.org/C122735190","wikidata":"https://www.wikidata.org/wiki/Q715789","display_name":"Gene mapping","level":4,"score":0.2739308476448059},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.16242453455924988},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.09060972929000854},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.08007022738456726},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.07898256182670593}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002900","descriptor_name":"Chromosomes, Human, 1-3","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002906","descriptor_name":"Chromosomes, Human, 6-12 and X","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003922","descriptor_name":"Diabetes Mellitus, Type 1","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D003922","descriptor_name":"Diabetes Mellitus, Type 1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005796","descriptor_name":"Genes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005819","descriptor_name":"Genetic Markers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006680","descriptor_name":"HLA Antigens","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007667","descriptor_name":"Kidd Blood-Group System","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D007791","descriptor_name":"Lactoylglutathione Lyase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008126","descriptor_name":"Lod Score","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008957","descriptor_name":"Models, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D011415","descriptor_name":"Complement Factor B","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"pmid:6580815","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/6580815","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American journal of human genetics","raw_type":"Journal Article"},{"id":"mag:327692510","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/6580815","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8560000061988831}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":39,"referenced_works":["https://openalex.org/W96717503","https://openalex.org/W110839133","https://openalex.org/W139532203","https://openalex.org/W1479887485","https://openalex.org/W1546022968","https://openalex.org/W1643869946","https://openalex.org/W1968154013","https://openalex.org/W1968569043","https://openalex.org/W1969889503","https://openalex.org/W1974338715","https://openalex.org/W1977861986","https://openalex.org/W1979198786","https://openalex.org/W1989432434","https://openalex.org/W1994525337","https://openalex.org/W1999758760","https://openalex.org/W1999950400","https://openalex.org/W2000144215","https://openalex.org/W2003391554","https://openalex.org/W2008444349","https://openalex.org/W2009656007","https://openalex.org/W2009919323","https://openalex.org/W2011429779","https://openalex.org/W2022969765","https://openalex.org/W2045927661","https://openalex.org/W2075154033","https://openalex.org/W2083571282","https://openalex.org/W2083754809","https://openalex.org/W2083869122","https://openalex.org/W2089212951","https://openalex.org/W2108794662","https://openalex.org/W2121757844","https://openalex.org/W2130531793","https://openalex.org/W2165938043","https://openalex.org/W2170789611","https://openalex.org/W2203207233","https://openalex.org/W2205222632","https://openalex.org/W2408438426","https://openalex.org/W2436943708","https://openalex.org/W3139600747"],"related_works":["https://openalex.org/W29020112","https://openalex.org/W2130531793","https://openalex.org/W2257261946","https://openalex.org/W1539305060","https://openalex.org/W1990634342","https://openalex.org/W1943876035","https://openalex.org/W2022969765","https://openalex.org/W2000144215","https://openalex.org/W2104239396","https://openalex.org/W1749462557"],"abstract_inverted_index":{"One":[0],"hundred":[1],"families":[2],"with":[3,12,113,134],"insulin-dependent":[4],"diabetes":[5],"mellitus":[6],"(IDDM)":[7],"were":[8,39,64],"analyzed":[9],"for":[10,49,94,126,195],"linkage":[11,37,51,110],"27":[13],"genetic":[14,44,84],"markers,":[15],"including":[16],"HLA,":[17,118],"properdin":[18],"factor":[19],"B":[20],"(BF),":[21],"and":[22,28,55,66,120],"glyoxalase":[23],"1(GLO)":[24],"on":[25,33],"chromosome":[26,34,115],"6,":[27],"Kidd":[29,127],"blood":[30,128],"group":[31],"(Jk)":[32],"2.":[35],"The":[36,88,122,147,163],"analyses":[38],"performed":[40],"under":[41,130,156,203],"several":[42],"different":[43,61],"models.":[45],"An":[46],"approximate":[47],"correction":[48],"two-locus":[50,164],"analysis":[52],"was":[53,159,192],"developed":[54],"applied":[56,67],"to":[57,68,80,83,108],"four":[58],"markers.":[59,71],"Two":[60],"heterogeneity":[62,85,95,196],"tests":[63],"implemented":[65],"all":[69],"the":[70,73,90,101,131,141,169,174,187,200,205,209],"One,":[72],"Predivided-Sample":[74,206],"Test,":[75,92],"utilizes":[76],"various":[77],"criteria":[78],"thought":[79],"be":[81,104],"relevant":[82],"in":[86,173],"IDDM.":[87],"other,":[89],"Admixture":[91,210],"looks":[93],"without":[96],"specifying":[97],"a":[98],"prior":[99],"how":[100],"sample":[102],"should":[103],"divided.":[105],"Results":[106],"continued":[107],"support":[109],"of":[111,178,199],"IDDM":[112],"three":[114],"6":[116],"markers:":[117],"BF,":[119],"GLO.":[121],"total":[123],"lod":[124,152,188,201],"score":[125,153],"group,":[129],"recessive":[132],"model":[133,158],"20%":[135],"penetrance,":[136],"is":[137],"1.63--down":[138],"1.2":[139],"from":[140],"2.83":[142],"reported":[143],"by":[144],"us":[145],"earlier.":[146],"only":[148],"other":[149],"marker":[150],"whose":[151],"exceeded":[154],"1.0":[155],"any":[157,198],"pancreatic":[160],"amylase":[161],"(AMY2).":[162],"correction,":[165],"which":[166],"involved":[167],"lowering":[168],"penetrance":[170],"values":[171],"used":[172],"analysis,":[175],"affected":[176],"estimates":[177],"theta":[179],"(recombination":[180],"fraction)":[181],"but":[182],"did":[183],"not":[184],"markedly":[185],"change":[186],"scores":[189],"themselves.":[190],"There":[191],"little":[193],"evidence":[194],"within":[197],"scores,":[202],"either":[204],"Test":[207],"or":[208],"Test.":[211]},"counts_by_year":[{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}