{"id":"https://openalex.org/W2005384029","doi":"https://doi.org/10.1089/10906570050114902","title":"Geography of HFE C282Y and H63D Mutations","display_name":"Geography of HFE C282Y and H63D Mutations","publication_year":2000,"publication_date":"2000-06-19","ids":{"openalex":"https://openalex.org/W2005384029","doi":"https://doi.org/10.1089/10906570050114902","mag":"2005384029","pmid":"https://pubmed.ncbi.nlm.nih.gov/10953959"},"language":"en","primary_location":{"id":"doi:10.1089/10906570050114902","doi":"https://doi.org/10.1089/10906570050114902","is_oa":false,"landing_page_url":"https://doi.org/10.1089/10906570050114902","pdf_url":null,"source":{"id":"https://openalex.org/S7851167","display_name":"Genetic Testing","issn_l":"1090-6576","issn":["1090-6576","1557-7473"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","norway-1"],"host_organization":"https://openalex.org/P4310320443","host_organization_name":"Mary Ann Liebert, Inc.","host_organization_lineage":["https://openalex.org/P4310320443","https://openalex.org/P4310320017"],"host_organization_lineage_names":["Mary Ann Liebert, Inc.","SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetic Testing","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","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/A5031025531","display_name":"Alison T. Merryweather\u2010Clarke","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Alison T. Merryweather-Clarke","raw_affiliation_strings":["Molecular Haematology Unit, Institute of Molecular Medicine, Headington, Oxford, OX3 9DS, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Haematology Unit, Institute of Molecular Medicine, Headington, Oxford, OX3 9DS, UK","institution_ids":["https://openalex.org/I40120149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113711583","display_name":"Jennifer J. Pointon","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Jennifer J. Pointon","raw_affiliation_strings":["Molecular Haematology Unit, Institute of Molecular Medicine, Headington, Oxford, OX3 9DS, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Haematology Unit, Institute of Molecular Medicine, Headington, Oxford, OX3 9DS, UK","institution_ids":["https://openalex.org/I40120149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108402312","display_name":"Anne Marie Jouanolle","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Anne Marie Jouanolle","raw_affiliation_strings":["UPR 41 CNRS, Facult\u00e9 de M\u00e9decine, CS34317, 35043 Rennes, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"UPR 41 CNRS, Facult\u00e9 de M\u00e9decine, CS34317, 35043 Rennes, France","institution_ids":["https://openalex.org/I1294671590"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111735941","display_name":"Jacques Rochette","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4647051","display_name":"Universit\u00e9 de Picardie Jules Verne","ror":"https://ror.org/01gyxrk03","country_code":"FR","type":"education","lineage":["https://openalex.org/I4647051"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Jacques Rochette","raw_affiliation_strings":["G\u00e9n\u00e9tique M\u00e9dicale et Lab. des Biomolecules, Universit\u00e9 Jules Verne de Picardie, Facult\u00e9 de M\u00e9decine, Amiens, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"G\u00e9n\u00e9tique M\u00e9dicale et Lab. des Biomolecules, Universit\u00e9 Jules Verne de Picardie, Facult\u00e9 de M\u00e9decine, Amiens, France","institution_ids":["https://openalex.org/I4647051"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5043275257","display_name":"Kathryn Robson","orcid":"https://orcid.org/0000-0003-4298-1874","observed_orcids":["https://orcid.org/0000-0003-4298-1874"]},"institutions":[{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Kathryn J. H. Robson","raw_affiliation_strings":["Molecular Haematology Unit, Institute of Molecular Medicine, Headington, Oxford, OX3 9DS, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Molecular Haematology Unit, Institute of Molecular Medicine, Headington, Oxford, OX3 9DS, UK","institution_ids":["https://openalex.org/I40120149"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":8.3193,"has_fulltext":false,"cited_by_count":305,"citation_normalized_percentile":{"value":0.9827234,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":97,"max":99},"biblio":{"volume":"4","issue":"2","first_page":"183","last_page":"198"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10452","display_name":"Iron Metabolism and Disorders","score":0.9980000257492065,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10452","display_name":"Iron Metabolism and Disorders","score":0.9980000257492065,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11369","display_name":"Genetic factors in colorectal cancer","score":0.00039999998989515007,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10261","display_name":"Genetic Associations and Epidemiology","score":0.0003000000142492354,"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/hereditary-hemochromatosis","display_name":"hereditary hemochromatosis","score":1.0},{"id":"https://openalex.org/keywords/hfe-c282y-mutation","display_name":"HFE C282Y mutation","score":0.9300000071525574},{"id":"https://openalex.org/keywords/h63d-mutation","display_name":"H63D mutation","score":0.9850000143051147},{"id":"https://openalex.org/keywords/mutation-frequency","display_name":"mutation frequency","score":0.5740000009536743},{"id":"https://openalex.org/keywords/population-genetics","display_name":"population genetics","score":0.8640000224113464},{"id":"https://openalex.org/keywords/geographic-distribution","display_name":"geographic distribution","score":0.5220000147819519},{"id":"https://openalex.org/keywords/emigration","display_name":"emigration","score":0.6159999966621399},{"id":"https://openalex.org/keywords/iron-absorption","display_name":"iron absorption","score":0.5379999876022339},{"id":"https://openalex.org/keywords/homozygosity","display_name":"homozygosity","score":0.7630000114440918}],"concepts":[{"id":"https://openalex.org/C3018783601","wikidata":"https://www.wikidata.org/wiki/Q3144934","display_name":"Hereditary hemochromatosis","level":3,"score":0.6137021780014038},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5666223764419556},{"id":"https://openalex.org/C2776590208","wikidata":"https://www.wikidata.org/wiki/Q2025687","display_name":"Hemochromatosis","level":2,"score":0.5563998222351074},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4628542959690094},{"id":"https://openalex.org/C3017966228","wikidata":"https://www.wikidata.org/wiki/Q1067887","display_name":"European population","level":3,"score":0.44286850094795227},{"id":"https://openalex.org/C205649164","wikidata":"https://www.wikidata.org/wiki/Q1071","display_name":"Geography","level":0,"score":0.4306792616844177},{"id":"https://openalex.org/C195054827","wikidata":"https://www.wikidata.org/wiki/Q504568","display_name":"Founder effect","level":5,"score":0.416472852230072},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3679906129837036},{"id":"https://openalex.org/C149923435","wikidata":"https://www.wikidata.org/wiki/Q37732","display_name":"Demography","level":1,"score":0.3317873179912567},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2525935769081116},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1719418466091156},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.146591454744339},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.09887251257896423},{"id":"https://openalex.org/C144024400","wikidata":"https://www.wikidata.org/wiki/Q21201","display_name":"Sociology","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D000071020","descriptor_name":"Hemochromatosis Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004641","descriptor_name":"Emigration and Immigration","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005828","descriptor_name":"Genetics, Population","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005843","descriptor_name":"Geography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006432","descriptor_name":"Hemochromatosis","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":false},{"descriptor_ui":"D006432","descriptor_name":"Hemochromatosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006680","descriptor_name":"HLA Antigens","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008565","descriptor_name":"Membrane Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015395","descriptor_name":"Histocompatibility Antigens Class I","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1089/10906570050114902","doi":"https://doi.org/10.1089/10906570050114902","is_oa":false,"landing_page_url":"https://doi.org/10.1089/10906570050114902","pdf_url":null,"source":{"id":"https://openalex.org/S7851167","display_name":"Genetic Testing","issn_l":"1090-6576","issn":["1090-6576","1557-7473"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","norway-1"],"host_organization":"https://openalex.org/P4310320443","host_organization_name":"Mary Ann Liebert, Inc.","host_organization_lineage":["https://openalex.org/P4310320443","https://openalex.org/P4310320017"],"host_organization_lineage_names":["Mary Ann Liebert, Inc.","SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Genetic Testing","raw_type":"journal-article"},{"id":"pmid:10953959","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10953959","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":"Genetic testing","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.6240000128746033,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":95,"referenced_works":["https://openalex.org/W40224127","https://openalex.org/W90671447","https://openalex.org/W153886182","https://openalex.org/W158787816","https://openalex.org/W627029004","https://openalex.org/W627599804","https://openalex.org/W1486343653","https://openalex.org/W1491869024","https://openalex.org/W1559929479","https://openalex.org/W1562221129","https://openalex.org/W1596378476","https://openalex.org/W1602382933","https://openalex.org/W1647483410","https://openalex.org/W1821395287","https://openalex.org/W1837190417","https://openalex.org/W1966778627","https://openalex.org/W1967852178","https://openalex.org/W1969385146","https://openalex.org/W1969403448","https://openalex.org/W1970097714","https://openalex.org/W1970975096","https://openalex.org/W1971241700","https://openalex.org/W1972883020","https://openalex.org/W1977773113","https://openalex.org/W1977960047","https://openalex.org/W1978969178","https://openalex.org/W1979511836","https://openalex.org/W1980789528","https://openalex.org/W1985177555","https://openalex.org/W1985765033","https://openalex.org/W1986553927","https://openalex.org/W1986976917","https://openalex.org/W1988791340","https://openalex.org/W1989854417","https://openalex.org/W1992422463","https://openalex.org/W1993802767","https://openalex.org/W1996526433","https://openalex.org/W1996965085","https://openalex.org/W1997462858","https://openalex.org/W2002605005","https://openalex.org/W2004766640","https://openalex.org/W2006028276","https://openalex.org/W2007224829","https://openalex.org/W2013365661","https://openalex.org/W2022630224","https://openalex.org/W2024183011","https://openalex.org/W2025220372","https://openalex.org/W2025741391","https://openalex.org/W2027552281","https://openalex.org/W2028107207","https://openalex.org/W2033449599","https://openalex.org/W2034321547","https://openalex.org/W2035638949","https://openalex.org/W2036744647","https://openalex.org/W2038944724","https://openalex.org/W2039312022","https://openalex.org/W2046484014","https://openalex.org/W2055398309","https://openalex.org/W2060415635","https://openalex.org/W2063005653","https://openalex.org/W2064403245","https://openalex.org/W2064495594","https://openalex.org/W2068096817","https://openalex.org/W2076334561","https://openalex.org/W2078785961","https://openalex.org/W2083562831","https://openalex.org/W2084392781","https://openalex.org/W2085654186","https://openalex.org/W2086066157","https://openalex.org/W2088065444","https://openalex.org/W2090593538","https://openalex.org/W2097408435","https://openalex.org/W2098058233","https://openalex.org/W2114030946","https://openalex.org/W2128335522","https://openalex.org/W2129751280","https://openalex.org/W2130780753","https://openalex.org/W2132865281","https://openalex.org/W2141937988","https://openalex.org/W2148709343","https://openalex.org/W2149406240","https://openalex.org/W2154726523","https://openalex.org/W2159183686","https://openalex.org/W2274227306","https://openalex.org/W2331643040","https://openalex.org/W2335705178","https://openalex.org/W2336961729","https://openalex.org/W2397058857","https://openalex.org/W2410035265","https://openalex.org/W2413121858","https://openalex.org/W2434005358","https://openalex.org/W2438125520","https://openalex.org/W3136389637","https://openalex.org/W4246566074","https://openalex.org/W4255882238"],"related_works":["https://openalex.org/W2144648585","https://openalex.org/W2030179617","https://openalex.org/W2038944724","https://openalex.org/W2004766640","https://openalex.org/W2035715006","https://openalex.org/W2033774133","https://openalex.org/W2046306399","https://openalex.org/W2130780753","https://openalex.org/W2013365661","https://openalex.org/W2157971865"],"abstract_inverted_index":{"Hereditary":[0],"hemochromatosis":[1],"(HH)":[2],"is":[3,19],"a":[4,34],"common":[5],"autosomal":[6],"recessive":[7],"disorder":[8],"causing":[9],"inappropriate":[10],"dietary":[11],"iron":[12],"absorption":[13],"that":[14],"affects":[15],"North":[16,48,99,105],"Europeans.":[17],"HH":[18,89,138],"associated":[20],"with":[21,43,113],"the":[22,26,30,50,59,85,91,127,135],"C282Y":[23,65,102,128],"mutation":[24,32,129],"of":[25,84,88,121,126,137],"HFE":[27],"gene,":[28],"and":[29,53,66,73,95,111,119],"H63D":[31,44,67],"to":[33,68],"lesser":[35],"degree.":[36],"Both":[37],"mutations":[38],"are":[39,90,107],"abundant":[40],"in":[41,47,76,98,104,130,139],"Europe,":[42],"also":[45],"appearing":[46],"Africa,":[49],"Middle":[51],"East,":[52],"Asia.":[54],"Emigration":[55],"from":[56],"Europe":[57],"over":[58],"past":[60],"500":[61],"years":[62],"has":[63],"introduced":[64],"America,":[69],"Australia,":[70],"New":[71],"Zealand,":[72],"South":[74],"Africa":[75],"an":[77],"essentially":[78],"predictable":[79],"fashion.":[80],"The":[81,124],"distinctive":[82],"characteristics":[83],"population":[86],"genetics":[87],"confined":[92],"racial":[93],"distribution":[94],"high":[96],"frequency":[97],"European":[100],"peoples.":[101],"frequencies":[103],"Europeans":[106],"typically":[108],"between":[109,117],"5%":[110],"10%,":[112],"homozygotes":[114],"accounting":[115],"for":[116,134],"1/100":[118],"1/400":[120],"these":[122],"populations.":[123],"scarcity":[125],"other":[131],"populations":[132],"accounts":[133],"lack":[136],"non-Europeans.":[140]},"counts_by_year":[{"year":2025,"cited_by_count":4},{"year":2024,"cited_by_count":7},{"year":2023,"cited_by_count":8},{"year":2022,"cited_by_count":9},{"year":2021,"cited_by_count":8},{"year":2020,"cited_by_count":6},{"year":2019,"cited_by_count":7},{"year":2018,"cited_by_count":6},{"year":2017,"cited_by_count":10},{"year":2016,"cited_by_count":8},{"year":2015,"cited_by_count":12},{"year":2014,"cited_by_count":12},{"year":2013,"cited_by_count":11},{"year":2012,"cited_by_count":9}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
