{"id":"https://openalex.org/W206561417","doi":null,"title":"A GENETIC INVESTIGATION OF THE ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1 (ENPP1) VARIANTS WITH DIABETES AND GLYCEMIA TRAITS IN AFRO-CARIBBEAN MEN","display_name":"A GENETIC INVESTIGATION OF THE ECTONUCLEOTIDE PYROPHOSPHATASE/PHOSPHODIESTERASE 1 (ENPP1) VARIANTS WITH DIABETES AND GLYCEMIA TRAITS IN AFRO-CARIBBEAN MEN","publication_year":2011,"publication_date":"2011-01-31","ids":{"openalex":"https://openalex.org/W206561417","mag":"206561417"},"language":"en","primary_location":{"id":"pmh:oai:d-scholarship.pitt.edu:9889","doi":null,"is_oa":true,"landing_page_url":"https://d-scholarship.pitt.edu/9889/1/MSTHESIStsleak.pdf","pdf_url":"http://d-scholarship.pitt.edu/9889/1/MSTHESIStsleak.pdf","source":{"id":"https://openalex.org/S4306402372","display_name":"D-Scholarship@Pitt (University of Pittsburgh)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I170201317","host_organization_name":"University of Pittsburgh","host_organization_lineage":["https://openalex.org/I170201317"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"PeerReviewed"},"volume":null,"type":"article","is_traditional":true,"indexed_in":[],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://d-scholarship.pitt.edu/9889/1/MSTHESIStsleak.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5081018197","display_name":"Tennille S. Leak","orcid":"https://orcid.org/0000-0003-3256-7362","observed_orcids":["https://orcid.org/0000-0003-3256-7362"]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Tennille S. Leak","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":["https://openalex.org/A5081018197"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.9307000041007996,"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":0.9307000041007996,"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/T12975","display_name":"Paraoxonase enzyme and polymorphisms","score":0.009600000455975533,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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/T13984","display_name":"Nutrition, Genetics, and Disease","score":0.005400000140070915,"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/enpp1","display_name":"ENPP1","score":0.9819999933242798},{"id":"https://openalex.org/keywords/diabetes-mellitus","display_name":"diabetes mellitus","score":0.5680000185966492},{"id":"https://openalex.org/keywords/glycemia","display_name":"glycemia","score":0.9700000286102295},{"id":"https://openalex.org/keywords/body-mass-index","display_name":"body mass index","score":0.7390000224113464},{"id":"https://openalex.org/keywords/fasting-blood-glucose","display_name":"fasting blood glucose","score":0.8360000252723694},{"id":"https://openalex.org/keywords/insulin-resistance","display_name":"insulin resistance","score":0.8830000162124634},{"id":"https://openalex.org/keywords/homa-ir","display_name":"HOMA-IR","score":0.8560000061988831},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.8399999737739563},{"id":"https://openalex.org/keywords/afro-caribbean-men","display_name":"Afro-Caribbean men","score":0.8479999899864197},{"id":"https://openalex.org/keywords/african-ancestry-populations","display_name":"African ancestry populations","score":0.8080000281333923},{"id":"https://openalex.org/keywords/insulin-signaling","display_name":"insulin signaling","score":0.6399999856948853},{"id":"https://openalex.org/keywords/3-untranslated-region-variant","display_name":"3' untranslated region variant","score":0.7870000004768372},{"id":"https://openalex.org/keywords/intronic-variants","display_name":"intronic variants","score":0.8880000114440918}],"concepts":[{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.7806000709533691},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.6370267868041992},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.59874027967453},{"id":"https://openalex.org/C2780221984","wikidata":"https://www.wikidata.org/wiki/Q131191","display_name":"Body mass index","level":2,"score":0.5416098833084106},{"id":"https://openalex.org/C555293320","wikidata":"https://www.wikidata.org/wiki/Q12206","display_name":"Diabetes mellitus","level":2,"score":0.5336229205131531},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.5089912414550781},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5015981197357178},{"id":"https://openalex.org/C106208931","wikidata":"https://www.wikidata.org/wiki/Q1098876","display_name":"Genome-wide association study","level":5,"score":0.4902708828449249},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.4839628040790558},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4801197052001953},{"id":"https://openalex.org/C2777180221","wikidata":"https://www.wikidata.org/wiki/Q3025883","display_name":"Type 2 diabetes","level":3,"score":0.4626743197441101},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4038568139076233},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3860871493816376},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.23722288012504578},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"pmh:oai:d-scholarship.pitt.edu:9889","doi":null,"is_oa":true,"landing_page_url":"https://d-scholarship.pitt.edu/9889/1/MSTHESIStsleak.pdf","pdf_url":"http://d-scholarship.pitt.edu/9889/1/MSTHESIStsleak.pdf","source":{"id":"https://openalex.org/S4306402372","display_name":"D-Scholarship@Pitt (University of Pittsburgh)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I170201317","host_organization_name":"University of Pittsburgh","host_organization_lineage":["https://openalex.org/I170201317"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"PeerReviewed"},{"id":"mag:206561417","doi":null,"is_oa":false,"landing_page_url":"http://d-scholarship.pitt.edu/9889/1/MSTHESIStsleak.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"pmh:oai:d-scholarship.pitt.edu:9889","doi":null,"is_oa":true,"landing_page_url":"https://d-scholarship.pitt.edu/9889/1/MSTHESIStsleak.pdf","pdf_url":"http://d-scholarship.pitt.edu/9889/1/MSTHESIStsleak.pdf","source":{"id":"https://openalex.org/S4306402372","display_name":"D-Scholarship@Pitt (University of Pittsburgh)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I170201317","host_organization_name":"University of Pittsburgh","host_organization_lineage":["https://openalex.org/I170201317"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"PeerReviewed"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.98580002784729}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W206561417.pdf","grobid_xml":"https://content.openalex.org/works/W206561417.grobid-xml"},"referenced_works_count":80,"referenced_works":["https://openalex.org/W1485161311","https://openalex.org/W1491267816","https://openalex.org/W1512419032","https://openalex.org/W1911010690","https://openalex.org/W1944558458","https://openalex.org/W1955042231","https://openalex.org/W1965141016","https://openalex.org/W1967966326","https://openalex.org/W1975210853","https://openalex.org/W1977243411","https://openalex.org/W1981696607","https://openalex.org/W1993340696","https://openalex.org/W1996437556","https://openalex.org/W1998634392","https://openalex.org/W2000265405","https://openalex.org/W2019604587","https://openalex.org/W2023460406","https://openalex.org/W2025143098","https://openalex.org/W2030148964","https://openalex.org/W2032890518","https://openalex.org/W2039680865","https://openalex.org/W2041585498","https://openalex.org/W2047319219","https://openalex.org/W2048755332","https://openalex.org/W2048785795","https://openalex.org/W2049144241","https://openalex.org/W2051540582","https://openalex.org/W2053330926","https://openalex.org/W2053922437","https://openalex.org/W2059529022","https://openalex.org/W2062042643","https://openalex.org/W2064232302","https://openalex.org/W2064533383","https://openalex.org/W2065200692","https://openalex.org/W2066563545","https://openalex.org/W2071257068","https://openalex.org/W2072116836","https://openalex.org/W2076225138","https://openalex.org/W2079559732","https://openalex.org/W2079780796","https://openalex.org/W2082067410","https://openalex.org/W2082122713","https://openalex.org/W2094748459","https://openalex.org/W2095791856","https://openalex.org/W2104056042","https://openalex.org/W2107889007","https://openalex.org/W2108169091","https://openalex.org/W2108284627","https://openalex.org/W2108319443","https://openalex.org/W2111337456","https://openalex.org/W2112209988","https://openalex.org/W2119453878","https://openalex.org/W2119665890","https://openalex.org/W2120321361","https://openalex.org/W2122622982","https://openalex.org/W2123245456","https://openalex.org/W2127537627","https://openalex.org/W2129245687","https://openalex.org/W2131723554","https://openalex.org/W2135584997","https://openalex.org/W2141878409","https://openalex.org/W2143768332","https://openalex.org/W2145241437","https://openalex.org/W2146071718","https://openalex.org/W2148212424","https://openalex.org/W2149385661","https://openalex.org/W2150536115","https://openalex.org/W2152664025","https://openalex.org/W2157752701","https://openalex.org/W2160234571","https://openalex.org/W2162530578","https://openalex.org/W2163447687","https://openalex.org/W2165788365","https://openalex.org/W2169174186","https://openalex.org/W2171874894","https://openalex.org/W2172202125","https://openalex.org/W2184739460","https://openalex.org/W2316713837","https://openalex.org/W2615647980","https://openalex.org/W2916530522"],"related_works":["https://openalex.org/W2066563545","https://openalex.org/W2165788365","https://openalex.org/W7098579438","https://openalex.org/W2119665890","https://openalex.org/W2098905817","https://openalex.org/W2006975059","https://openalex.org/W2135584997","https://openalex.org/W2032890518","https://openalex.org/W2141878409","https://openalex.org/W7096030934"],"abstract_inverted_index":{"Ectonucleotide":[0],"pyrophosphatase/phosphodiesterase":[1],"1,":[2],"which":[3],"downregulates":[4],"insulin":[5,103],"signaling":[6],"by":[7,15],"inhibiting":[8],"insulin-receptor":[9],"tyrosine":[10],"kinase":[11],"activity,":[12],"is":[13,257],"encoded":[14],"the":[16,196,213,215,229,273,304],"ENPP1":[17,22,55,134,256,274],"gene.":[18],"Common":[19],"variants":[20,56,220,227,271],"in":[21,36,43,65,89,109,157,171,183,195,228,243,272,283,311],"have":[23],"been":[24],"associated":[25],"with":[26,59,98,133,155,169],"body":[27],"mass":[28],"index":[29],"(BMI),":[30],"diabetes":[31,60,156,238,263,310],"and":[32,61,92,104,122,136,192,202,218,224,240,245,279],"glycemia":[33,62],"related":[34,63,264],"traits":[35,64],"populations":[37,46],"of":[38,210,236,286,292,307,313],"European":[39,244],"Ancestry,":[40],"but":[41],"data":[42],"African":[44,246,314],"ancestry":[45],"are":[47,291],"sparse.":[48],"Our":[49],"objective":[50],"was":[51,116],"to":[52,142,190,262,303],"evaluate":[53],"common":[54],"for":[57,150,250],"association":[58,115,151],"a":[66,259],"high":[67],"risk":[68,235],"Afro-Caribbean":[69,211,287],"population.":[70],"Thirty-four":[71],"single":[72],"nucleotide":[73],"polymorphisms":[74],"(SNPs)":[75],"based":[76],"on":[77],"pair-wise":[78],"tagging":[79],"(r2":[80],">":[81,84],"0.80;":[82],"MAF":[83],"0.05)":[85,154],"were":[86,106,131,167],"successfully":[87],"genotyped":[88],"380":[90],"cases":[91],"1,455":[93],"controls":[94],"without":[95],"diabetes.":[96],"Associations":[97],"BMI,":[99],"fasting":[100,102,137],"glucose,":[101],"HOMA-IR":[105],"also":[107],"analyzed":[108],"non-diabetic":[110],"controls.":[111],"The":[112,163],"most":[113,164],"interesting":[114],"observed":[117,132,168],"between":[118],"rs1044498":[119],"K121":[120,216],"allele":[121,217],"lower":[123],"BMI":[124,223,278],"(age-adjusted":[125],"P":[126,178],"=":[127,179,205],"0.018).":[128],"Nominal":[129],"associations":[130,166],"SNPs":[135,146,170,182,194],"glucose":[138,281],"(age-and":[139],"BMI-adjusted":[140],"P=0.001":[141],"0.020).":[143],"Also,":[144,226],"six":[145],"showed":[147],"nominal":[148],"evidence":[149],"(P":[152],"<":[153],"one":[158],"or":[159,296],"more":[160],"genotypic":[161],"model.":[162],"significant":[165],"intron":[172,184],"11":[173],"(rs17060836;":[174],"OR=1.32":[175],"[1.04-1.67];":[176],"dominant":[177],"0.019),":[180],"two":[181],"1":[185],"(rs703184,":[186],"rs7749493;":[187],"OR=":[188],"0.78":[189],"1.39)":[191],"three":[193],"3'":[197,230],"untranslated":[198],"region":[199],"(rs7754561,":[200],"rs7769993":[201],"rs9373000;":[203],"OR":[204],"0.69-1.38).":[206],"In":[207],"this":[208,284],"population":[209,285],"men,":[212],"ENPP1-rs1044498":[214],"intronic":[219],"may":[221,276],"modulate":[222,277],"glucose.":[225],"UTR":[231],"confer":[232],"an":[233],"increased":[234],"developing":[237],"confirming":[239],"extending":[241],"reports":[242],"Americans.":[247],"After":[248],"accounting":[249],"multiple":[251],"testing,":[252],"we":[253],"conclude":[254],"that":[255,270],"not":[258],"major":[260],"contributor":[261],"traits;":[265],"nevertheless,":[266],"our":[267],"results":[268],"reveal":[269],"gene":[275],"maintain":[280],"homeostasis":[282],"men.":[288],"These":[289],"studies":[290],"public":[293],"health":[294],"relevance":[295],"importance":[297],"because":[298],"they":[299],"contribute":[300],"epidemiologic":[301],"information":[302],"genetic":[305],"etiology":[306],"type":[308],"2":[309],"men":[312],"ancestry.":[315]},"counts_by_year":[],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2016-06-24T00:00:00"}
