{"id":"https://openalex.org/W2096758237","doi":"https://doi.org/10.1146/annurev.genet.37.110801.143820","title":"Genetics of Lactase Persistence and Lactose Intolerance","display_name":"Genetics of Lactase Persistence and Lactose Intolerance","publication_year":2003,"publication_date":"2003-12-01","ids":{"openalex":"https://openalex.org/W2096758237","doi":"https://doi.org/10.1146/annurev.genet.37.110801.143820","mag":"2096758237","pmid":"https://pubmed.ncbi.nlm.nih.gov/14616060"},"language":"en","primary_location":{"id":"doi:10.1146/annurev.genet.37.110801.143820","doi":"https://doi.org/10.1146/annurev.genet.37.110801.143820","is_oa":false,"landing_page_url":"https://doi.org/10.1146/annurev.genet.37.110801.143820","pdf_url":null,"source":{"id":"https://openalex.org/S92134727","display_name":"Annual Review of Genetics","issn_l":"0066-4197","issn":["0066-4197","1545-2948"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-2","medline","norway-1","poland-200","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320373","host_organization_name":"Annual Reviews","host_organization_lineage":["https://openalex.org/P4310320373"],"host_organization_lineage_names":["Annual Reviews"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annual Review of Genetics","raw_type":"journal-article"},"volume":null,"type":"review","is_traditional":true,"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/A5031675171","display_name":"Dallas M. Swallow","orcid":"https://orcid.org/0000-0001-7310-2735","observed_orcids":["https://orcid.org/0000-0001-7310-2735"]},"institutions":[{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Dallas M. Swallow","raw_affiliation_strings":["Galton Laboratory, Department of Biology, University College London, Wolfson House, 4 Stephenson Way, London NW1 2HE, England"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Galton Laboratory, Department of Biology, University College London, Wolfson House, 4 Stephenson Way, London NW1 2HE, England","institution_ids":["https://openalex.org/I45129253"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5031675171"],"corresponding_institution_ids":["https://openalex.org/I45129253"],"apc_list":null,"apc_paid":null,"fwci":3.5563,"has_fulltext":false,"cited_by_count":609,"citation_normalized_percentile":{"value":0.96494845,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":99,"max":100},"biblio":{"volume":"37","issue":"1","first_page":"197","last_page":"219"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T13199","display_name":"Digestive system and related health","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2715","display_name":"Gastroenterology"},"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/T13199","display_name":"Digestive system and related health","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2715","display_name":"Gastroenterology"},"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":9.999999747378752e-05,"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/T10594","display_name":"Genetic and phenotypic traits in livestock","score":9.999999747378752e-05,"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/lactase-persistence","display_name":"lactase persistence","score":1.0},{"id":"https://openalex.org/keywords/lactose-intolerance","display_name":"lactose intolerance","score":0.9990000128746033},{"id":"https://openalex.org/keywords/lactase-gene","display_name":"lactase gene","score":0.8650000095367432},{"id":"https://openalex.org/keywords/single-nucleotide-polymorphisms","display_name":"single nucleotide polymorphisms","score":0.8980000019073486},{"id":"https://openalex.org/keywords/haplotypes","display_name":"haplotypes","score":0.7879999876022339},{"id":"https://openalex.org/keywords/weaning","display_name":"weaning","score":0.6079999804496765}],"concepts":[{"id":"https://openalex.org/C2778974006","wikidata":"https://www.wikidata.org/wiki/Q379764","display_name":"Lactase","level":3,"score":0.9683266282081604},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8472470045089722},{"id":"https://openalex.org/C2777432071","wikidata":"https://www.wikidata.org/wiki/Q219223","display_name":"Lactose intolerance","level":3,"score":0.8115298748016357},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5415831208229065},{"id":"https://openalex.org/C2778724459","wikidata":"https://www.wikidata.org/wiki/Q127900","display_name":"Lactose","level":2,"score":0.5369526743888855},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.45768845081329346},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.375018447637558},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.35417649149894714},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.13683441281318665}],"mesh":[{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","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":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007785","descriptor_name":"Lactose","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D007787","descriptor_name":"Lactose Intolerance","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011110","descriptor_name":"Polymorphism, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011401","descriptor_name":"Promoter Regions, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D043322","descriptor_name":"Lactase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D043322","descriptor_name":"Lactase","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1146/annurev.genet.37.110801.143820","doi":"https://doi.org/10.1146/annurev.genet.37.110801.143820","is_oa":false,"landing_page_url":"https://doi.org/10.1146/annurev.genet.37.110801.143820","pdf_url":null,"source":{"id":"https://openalex.org/S92134727","display_name":"Annual Review of Genetics","issn_l":"0066-4197","issn":["0066-4197","1545-2948"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-2","medline","norway-1","poland-200","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320373","host_organization_name":"Annual Reviews","host_organization_lineage":["https://openalex.org/P4310320373"],"host_organization_lineage_names":["Annual Reviews"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annual Review of Genetics","raw_type":"journal-article"},{"id":"pmid:14616060","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/14616060","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":"Annual review of genetics","raw_type":"Journal Article"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:154711","doi":null,"is_oa":false,"landing_page_url":"http://discovery.ucl.ac.uk/154711/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"ANNU REV GENET , 37 197 - 219. (2003)","raw_type":"Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.6240000128746033,"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":92,"referenced_works":["https://openalex.org/W131912391","https://openalex.org/W165827639","https://openalex.org/W180736788","https://openalex.org/W205211927","https://openalex.org/W209103495","https://openalex.org/W1482595433","https://openalex.org/W1500217459","https://openalex.org/W1514426880","https://openalex.org/W1519777513","https://openalex.org/W1522309202","https://openalex.org/W1527915585","https://openalex.org/W1530889613","https://openalex.org/W1538933232","https://openalex.org/W1591335564","https://openalex.org/W1606351341","https://openalex.org/W1690836567","https://openalex.org/W1710865680","https://openalex.org/W1845900726","https://openalex.org/W1966069967","https://openalex.org/W1966781184","https://openalex.org/W1967200723","https://openalex.org/W1970301540","https://openalex.org/W1971128853","https://openalex.org/W1971902780","https://openalex.org/W1980517817","https://openalex.org/W1989977937","https://openalex.org/W1990164787","https://openalex.org/W1998154939","https://openalex.org/W1998474148","https://openalex.org/W1998693936","https://openalex.org/W1999091977","https://openalex.org/W2000380175","https://openalex.org/W2001686180","https://openalex.org/W2001722477","https://openalex.org/W2014823903","https://openalex.org/W2015943987","https://openalex.org/W2017410870","https://openalex.org/W2018499189","https://openalex.org/W2019368267","https://openalex.org/W2020968244","https://openalex.org/W2024998168","https://openalex.org/W2025871675","https://openalex.org/W2026925931","https://openalex.org/W2027099604","https://openalex.org/W2029698947","https://openalex.org/W2030231169","https://openalex.org/W2036429321","https://openalex.org/W2040931088","https://openalex.org/W2041887935","https://openalex.org/W2048545910","https://openalex.org/W2049414355","https://openalex.org/W2053352498","https://openalex.org/W2054329375","https://openalex.org/W2054810829","https://openalex.org/W2056322834","https://openalex.org/W2066195438","https://openalex.org/W2067991539","https://openalex.org/W2068713945","https://openalex.org/W2071126460","https://openalex.org/W2074461464","https://openalex.org/W2085133043","https://openalex.org/W2089883646","https://openalex.org/W2090745996","https://openalex.org/W2094614504","https://openalex.org/W2107336797","https://openalex.org/W2107670778","https://openalex.org/W2109051895","https://openalex.org/W2110389243","https://openalex.org/W2115843686","https://openalex.org/W2120314738","https://openalex.org/W2122706452","https://openalex.org/W2124240970","https://openalex.org/W2134740396","https://openalex.org/W2135841997","https://openalex.org/W2143663898","https://openalex.org/W2144999720","https://openalex.org/W2145882667","https://openalex.org/W2149488057","https://openalex.org/W2154972461","https://openalex.org/W2165902376","https://openalex.org/W2280758399","https://openalex.org/W2282083000","https://openalex.org/W2334321399","https://openalex.org/W2398090228","https://openalex.org/W2399360127","https://openalex.org/W2410399587","https://openalex.org/W2412834510","https://openalex.org/W2426913191","https://openalex.org/W2479838607","https://openalex.org/W4205809866","https://openalex.org/W4285719527","https://openalex.org/W4299541906"],"related_works":["https://openalex.org/W2530384029","https://openalex.org/W2108090423","https://openalex.org/W2056322834","https://openalex.org/W2096902146","https://openalex.org/W2102482027","https://openalex.org/W2121146210","https://openalex.org/W2059168855","https://openalex.org/W2031103971","https://openalex.org/W1971312263","https://openalex.org/W7047228335"],"abstract_inverted_index":{"The":[0,75],"enzyme":[1],"lactase":[2,37,48,73,80,98,125,144,163],"that":[3,118],"is":[4,14,24,70,85,89,119,127,133],"located":[5,134],"in":[6,20,31,82,121,145,162],"the":[7,11,41,97,111,139,149,160],"villus":[8],"enterocytes":[9],"of":[10,18,77,113,141,143,148],"small":[12],"intestine":[13],"responsible":[15],"for":[16],"digestion":[17],"lactose":[19,62],"milk.":[21],"Lactase":[22],"activity":[23,38,49],"high":[25,53],"and":[26,88,108],"vital":[27],"during":[28],"infancy,":[29],"but":[30],"most":[32,35],"mammals,":[33],"including":[34],"humans,":[36,47],"declines":[39],"after":[40],"weaning":[42],"phase.":[43],"In":[44],"other":[45],"healthy":[46],"persists":[50],"at":[51],"a":[52,92,114],"level":[54],"throughout":[55],"adult":[56],"life,":[57],"enabling":[58],"them":[59],"to":[60,96],"digest":[61],"as":[63,72],"adults.":[64],"This":[65,129,153],"dominantly":[66],"inherited":[67],"genetic":[68],"trait":[69],"known":[71],"persistence.":[74],"distribution":[76],"these":[78],"different":[79],"phenotypes":[81],"human":[83],"populations":[84],"highly":[86],"variable":[87],"controlled":[90],"by":[91],"polymorphic":[93],"element":[94],"cis-acting":[95],"gene.":[99],"A":[100],"putative":[101],"causal":[102],"nucleotide":[103,131],"change":[104,154],"has":[105],"been":[106],"identified":[107],"occurs":[109],"on":[110],"background":[112],"very":[115],"extended":[116],"haplotype":[117],"frequent":[120],"Northern":[122],"Europeans,":[123],"where":[124],"persistence":[126],"frequent.":[128],"single":[130],"polymorphism":[132],"14":[135],"kb":[136],"upstream":[137],"from":[138],"start":[140],"transcription":[142],"an":[146],"intron":[147],"adjacent":[150],"gene":[151],"MCM6.":[152],"does":[155],"not,":[156],"however,":[157],"explain":[158],"all":[159],"variation":[161],"expression.":[164]},"counts_by_year":[{"year":2026,"cited_by_count":19},{"year":2025,"cited_by_count":24},{"year":2024,"cited_by_count":17},{"year":2023,"cited_by_count":19},{"year":2022,"cited_by_count":17},{"year":2021,"cited_by_count":25},{"year":2020,"cited_by_count":42},{"year":2019,"cited_by_count":17},{"year":2018,"cited_by_count":30},{"year":2017,"cited_by_count":26},{"year":2016,"cited_by_count":26},{"year":2015,"cited_by_count":30},{"year":2014,"cited_by_count":40},{"year":2013,"cited_by_count":28},{"year":2012,"cited_by_count":41}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}