Ileal lactase expression associates with lactase persistence genotypes
Nowak J.K. Dybska E. Dworacka M. Tsikhan N. Kononets V. Bermagambetova S. Walkowiak J.
April 2021MDPI AG
Nutrients
2021#13Issue 4
(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 ± 13.6 years with a mean BMI of 25.6 ± 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 × 10−6, vs. AA p = 1.1 × 10−7). Homozygous major allele of rs3754689 (GG) was related to higher LCT expression (vs. AG p = 1.7 × 10−5, 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 = −0.57, pFDR = 1.1 × 10−14); (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.
Lactase persistence , Lactose , Lactose intolerance , Macrophage , Milk , Monocyte
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Department of Pediatric Gastroenterology and Metabolic Diseases, Poznan University of Medical Sciences, Szpitalna 27/33, Poznan, 60-572, Poland
Department of Pharmacology, Poznan University of Medical Sciences, Poznan, 60-572, Poland
Department of Pediatrics, Grodno State Medical University, Grodno, 230009, Belarus
West Kazakhstan Marat Ospanov Medical University, Aktobe, 030012, Kazakhstan
Department of Pediatric Gastroenterology and Metabolic Diseases
Department of Pharmacology
Department of Pediatrics
West Kazakhstan Marat Ospanov Medical University
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