Genotype Prevalence of Lactose Deficiency, Vitamin D Deficiency, and the Vitamin D Receptor in a Chilean Inflammatory Bowel Disease Cohort: Insights from an Observational Study

Int J Mol Sci. 2023 Oct 3;24(19):14866. doi: 10.3390/ijms241914866.

Abstract

Lactose intolerance (LI) and vitamin D deficiency (VDD) have been linked to inflammatory bowel disease (IBD). We conducted an observational study in 192 Chilean IBD patients to investigate the prevalence of a specific gene variant (LCT-13910 CC genotype) associated with LI and the prevalence of VDD/Vitamin D Receptor (VDR) gene variants. Blood samples were analyzed using Illumina's Infinium Global Screening Array. The LCT-13910 CC genotype was found in 61% of IBD patients, similar to Chilean Hispanic controls and lower than Chilean Amerindian controls. The frequency of the LCT-13910-C allele in Chilean IBD patients (0.79) was comparable to the general population and higher than Europeans (0.49). Regarding VDR and VDD variants, in our study, the rs12785878-GG variant was associated with an increased risk of IBD (OR = 2.64, CI = 1.61-4.32; p-value = 0.001). Sixty-one percent of the Chilean IBD cohort have a genetic predisposition to lactose malabsorption, and a significant proportion exhibit genetic variants associated with VDD/VDR. Screening for LI and VDD is crucial in this Latin American IBD population.

Keywords: Latin American; inflammatory bowel disease; lactose intolerance; single-nucleotide polymorphism; vitamin D.

Publication types

  • Observational Study

MeSH terms

  • Chile / epidemiology
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Inflammatory Bowel Diseases* / complications
  • Inflammatory Bowel Diseases* / epidemiology
  • Inflammatory Bowel Diseases* / genetics
  • Lactose* / deficiency
  • Polymorphism, Single Nucleotide
  • Prevalence
  • Receptors, Calcitriol* / genetics
  • Vitamin D
  • Vitamin D Deficiency / complications
  • Vitamin D Deficiency / epidemiology
  • Vitamin D Deficiency / genetics

Substances

  • Lactose
  • Receptors, Calcitriol
  • Vitamin D