PDF | https://doi.org/10.46613/congastro2023-80
This work is licensed under CC BY 4.0
Perez T1, Bustamante M2, Aguilar N3, Segovia R4, Baez P2, Magne F2, Zazueta A2, Azocar L3, Estela R5, De la Vega A5, Hernandez C3, Silva V5, Gonzalez M5, Candia R3, Pavez C3, Escobar S5, Arriagada E5, Onetto G5, Miquel J3, Alvarez M3
11.Pontificia Universidad Catolica 2.Hospital San Borja Arriaran, Santiago, Chile
2Universidad de Chile, Santiago, Chile
3Pontificia Universidad Catolica, Santiago, Chile
4Red Salud Arauco, Santiago, Chile
5Hospital San Borja, Santiago, Chile
…
Background. Lactose intolerance (LI) affects 33% to 75% of the world’s population. LI can be secondary to primary or secondary lactose malabsorption. The single-nucleotide polymorphism (SNP) of the lactase gene (LCT) rs4988235-CC confers the non-persistence of lactase. Studies have reported a prevalence of 57% of the CC genotype in the Hispanic Chilean population and 88% in Amerindians, with an important correlation with symptoms of intolerance to the digestion of dairy products. This group of patients might avoid dairy consumption. Patients with IBD may have insufficient production of lactase. In addition, vitamin D deficiency has been reported in patients with IBD. Aim. To evaluate the prevalence of rs4988235-C in Chilean patients with IBD and genotypes associated with vitamin D deficiency (VDD). Methods. 192 patients with IBD were genotyped using Illumina screening Array, the prevalence of the VDD genotypes rs4988235-CC, rs12785878-GG, rs2282679-CC, and rs10741657-GG were evaluated. Results. Table 1 shows the prevalence’s of the genetic variant related to Lactose Intolerance and Vitamin D Deficiency in IBD Chilean Patients. The frequency of the C allele for rs4988235 for Chilean IBD patients was 0.79, similar to general American Population (Mexican, Puerto Rican, Peruvian, and Colombian) and Chilean =0.78, and 0.77, and higher than European =0.49).
Conclusion: More than half of Chilean IBD patients have a genetic predisposition to lactose malabsorption, and 5-44% have genetic variants linked to low vitamin D levels. Screening for lactose intolerance and vitamin D deficiency is crucial in this population to prevent negative health outcomes, including an increased risk of osteoporosis. Lactose intolerance should be considered in symptomatic Chilean IBD patients with inactive disease. The lactase genotype rs4988235-CC is prevalent in the American population, suggesting that lactose intolerance may be a issue for Latin American IBD patients.