The C/C-13910 genotype of adult-type hypolactasia is associated with an increased risk of colorectal cancer in the Finnish population

Abstract

Background and aims: The role of nutrition in the pathogenesis of colorectal cancer is not fully understood. Milk products are an essential part of human nutrition in Western countries. Absorption of lactose, the main sugar of milk, is regulated by the activity of the lactase enzyme in the gut wall. The activity of lactase is genetically determined and is associated with a C/T single nucleotide polymorphism residing 13910 bp upstream of the lactase coding sequence. Here we have studied the relationship between the C/T 213910 polymorphism and colorectal cancer in Finnish, British, and Spanish populations. Patients and methods: A total of 2766 subjects, including 963 Finnish, 283 British, and 163 Spanish subjects with colorectal cancer, and 773 Finnish, 363 British, and 221 Spanish control subjects, were genotyped for the C/T 213910 variant by polymerase chain reaction minisequencing. Results: The C/C 213910 genotype, which is a robust molecular marker of low lactase activity (lactase nonpersistence), was found to significantly associate with the risk of colorectal cancer (p = 0.015) in the Finnish subjects, with an odds ratio of 1.40 (95% confidence interval 1.07-1.85). No association was found with site, histology, or stage of the tumour. No significant risk was detected in the British or Spanish populations. Conclusion: Low lactase enzyme activity, defined by genotyping of the C/T 213910 variant, may increase the risk of colorectal cancer. Further studies are warranted to investigate the role of milk and other dairy products in the pathogenesis of colon cancer in different populations.

Quantifying the ‘hidden’ lactose in drugs used for the treatment of gastrointestinal conditions

“…47 In the Finnish population, low lactase enzyme activity, defined by genotyping of the C ⁄ T (13910) variant (LI) may increase the risk of colorectal cancer. 48 The drugs used in treatment of IBD like 5-ASA preparations and Budesonide are formulated to deliver the active ingredients topically to the distal small bowel and colon after oral ingestion. This is achieved by a pH-dependent release mechanism or through bacterial degradation.…”

Lactase Persistence, Dietary Intake of Milk, and the Risk for Prostate Cancer in Sweden and Finland

“…Association between this C/T -13910 variant and prostate cancer has not been studied before. However, studies about the association between this variant and other cancers have been done (34,35).…”

Lactase persistence-related genetic variant: population substructure and health outcomes

“…18 -20 Until recently, no large-scale studies with genotype data have been reported from Britain, but two small studies reported prevalences of 5.4 and 9.0% of nonpersistence (C) allele homozygosity. 21,22 The latter study recruited participants from the south of England, where the prevalence of non-persistence (C) allele homozygosity in our study was higher than in the north of Britain. There was no evidence of an age difference by genotype, and there was no strong evidence of departure from the Hardy-Weinberg equilibrium either at younger or older ages, suggesting that in this population genotype is not related to survival.…”