{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T14:50:12Z","timestamp":1785855012775,"version":"3.56.0"},"reference-count":34,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2021,4,17]],"date-time":"2021-04-17T00:00:00Z","timestamp":1618617600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004281","name":"Narodowe Centrum Nauki","doi-asserted-by":"publisher","award":["2017\/25\/B\/NZ5\/02783"],"award-info":[{"award-number":["2017\/25\/B\/NZ5\/02783"]}],"id":[{"id":"10.13039\/501100004281","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nutrients"],"abstract":"<jats:p>(1) Background: Lactose digestion depends on persistence genotypes (including rs4988235), the frequency of which exhibits broad geographical variability. However, little is known about the relationship between lactase (LCT) genotypes and intestinal expression of LCT. We aimed to investigate ileal expression of LCT depending on main genetic polymorphisms (rs4988235, rs3754689, rs3739022), age, sex, smoking status, body mass index (BMI), and the expression of other genes; (2) Methods: phenotype, array-based genotype, and ileal mucosal biopsy expression data were obtained from the CEDAR study; (3) Results: analyses included 196 healthy Europeans (53.6% women) aged 53.0 \u00b1 13.6 years with a mean BMI of 25.6 \u00b1 4.2 kg\/m2, of whom 17.4% were smoking. Ileal LCT expression was mostly independent of age, sex, BMI, or smoking. Rs4988235 homozygous minor allele (GG) associated with lower LCT expression (vs. AG p = 2.2 \u00d7 10\u22126, vs. AA p = 1.1 \u00d7 10\u22127). Homozygous major allele of rs3754689 (GG) was related to higher LCT expression (vs. AG p = 1.7 \u00d7 10\u22125, vs. AA p = 0.0074). Rs3754689 genotype did not modify LCT expression (GG vs. AG p = 0.051) in rs4988235-heterozygous subgroup. Interestingly, CD14, which is a marker of monocytes and macrophages, was the strongest negative transcriptomic correlate of LCT expression (r = \u22120.57, pFDR = 1.1 \u00d7 10\u221214); (4) Conclusions: both rs4988235 and rs3754689 associated with ileal LCT expression, which did not seem related to age, sex, smoking, or BMI. The inverse correlation between LCT and CD14 expression in the ileum is striking and requires further investigation.<\/jats:p>","DOI":"10.3390\/nu13041340","type":"journal-article","created":{"date-parts":[[2021,4,19]],"date-time":"2021-04-19T06:35:53Z","timestamp":1618814153000},"page":"1340","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Ileal Lactase Expression Associates with Lactase Persistence Genotypes"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0953-2188","authenticated-orcid":false,"given":"Jan Krzysztof","family":"Nowak","sequence":"first","affiliation":[{"name":"Department of Pediatric Gastroenterology and Metabolic Diseases, Poznan University of Medical Sciences, Szpitalna 27\/33, 60-572 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2692-2487","authenticated-orcid":false,"given":"Emilia","family":"Dybska","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology and Metabolic Diseases, Poznan University of Medical Sciences, Szpitalna 27\/33, 60-572 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marzena","family":"Dworacka","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Poznan University of Medical Sciences, 60-572 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7803-5460","authenticated-orcid":false,"given":"Natallia","family":"Tsikhan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Grodno State Medical University, 230009 Grodno, Belarus"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4666-6794","authenticated-orcid":false,"given":"Victoria","family":"Kononets","sequence":"additional","affiliation":[{"name":"West Kazakhstan Marat Ospanov Medical University, Aktobe 030012, Kazakhstan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5018-0498","authenticated-orcid":false,"given":"Saule","family":"Bermagambetova","sequence":"additional","affiliation":[{"name":"West Kazakhstan Marat Ospanov Medical University, Aktobe 030012, Kazakhstan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5813-5707","authenticated-orcid":false,"given":"Jaros\u0142aw","family":"Walkowiak","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology and Metabolic Diseases, Poznan University of Medical Sciences, Szpitalna 27\/33, 60-572 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,4,17]]},"reference":[{"key":"ref_1","first-page":"343","article-title":"Lactose Intolerance\u2014Current State of Knowledge","volume":"9","author":"Fidler","year":"2010","journal-title":"Acta Sci. 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