Section: 
Science articles
Science articlesAdult-type hypolactasia (primary lactase deficiency) genotype frequency in patients with chronic rhinosinusitis with nasal polyps
S. A. Rebrova (1), E. V. Tyrnova (1)
(1) Saint Petersburg Research Institute of Ear, Nose, Throat and Speech, Saint Petersburg, 190013, Russia
UDK: УДК 616.211-002-006.5:575.174.015.3:577.154.25
DOI: https://doi.org/10.18692/1810-4800-2023-2-44-52
ABSTRACT
An assumption has been made about the role of lactase deficiency in the pathogenesis of polypous rhinosinusitis in the domestic literature. Objective. A pilot study of the frequency of carriage of the genetic marker of adult hypolactasia of the C/C(-13910) polymorphism of the MCM6 gene in patients with chronic polypous rhinosinusitis; analysis of modern literature data on the prevalence of C/T(-13910) polymorphism of the MCM6 gene in the population of the European part of Russia. Patients and methods. 16 Caucasian patients with chronic rhinosinusitis with nasal polyps (CRSwNP) were examined. The prevalence of the nasal polyposis was assessed on the basis of computed tomography of the paranasal sinuses, the determination of the genetic marker of the C/T(-13910) polymorphism of the MCM6 gene was determined by real-time PCR. Results. Severe course of CRSwNP based on CT data of the paranasal sinuses was established in 69% of cases. Concomitant pathology of the respiratory tract was detected in 75% of patients: a combination of CRSwNP, bronchial asthma (BA), and allergic rhinitis (AR) 31%; CRSwNP and BA 19%; CRSwNP and AR 25% of cases. The CC genotype associated with primary hypolactasia was detected in 37.5% of cases. The genotypes associated with lactase persistence were established: CT in 56.25%, TT in 6.25% of patients. Allele frequency C 0.65, T 0.34. The distribution of genotype frequencies corresponds to the Hardy–Weinberg equilibrium distribution (χ2 test 0.97, Hardy–Weinberg exact equilibrium test p = 0.43). 67% of carriers of the CC genotype in patients with CRSwNP did not have any clinical signs of lactase deficiency. Among 3 patients with CRSwNP who noted intestinal discomfort after eating dairy products, CC genotype was in 2 people (33% of genotype carriers), CT in 1 patient (11% of heterozygotes). Conclusion. The frequency of carriage of the CC genotype of the single nucleotide polymorphism C/T (-13910) of the MCM6 gene associated with low lactase activity in patients with CRSwNP (Saint Petersburg residents) was detected at the level of 37.5%, which does not exceed the prevalence of the primary hypolactasia genotype in the general population of the European part of Russia.
Publication date:
24.04.2023
Keywords:
chronic rhinosinusitis with nasal polyps, DNA diagnostics, adult-type hypolactasia, populations of Russia European part. For citation:
Rebrova S. A., Tyrnova E. V. Adult-type hypolactasia (primary lactase deficiency) genotype frequency in patients with chronic rhinosinusitis with nasal polyps. Russian Otorhinolaryngology. 2023;22(2):44-52. https://doi.org/10.18692/1810-4800-2023-2-44-52