Distribution of polymorphic variants of the mannose-binding lectin gene (MBL2) in children with mild and severe asthma

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Abstract

Asthma is one of the most common inflammatory diseases in the world. One of the factors in the development of this disease is a low concentration of mannose-binding lectin (MBL), encoded by the MBL2 gene.

Purpose. To study the distribution of genotypes and alleles of polymorphic variants of the MBL2 gene in children with asthma.

Material and methods. The study included children with diagnosed bronchial asthma (n=400) (Krasnoyarsk). The control group consisted of children comparable in gender and age to the patients (n=229) and newborns (n=302). GINA-202 guidelines were used to determine the severity of the disease.

Results. Statistically significant differences were identified for polymorphisms localized in the first exon of the gene – rs1800450 and rs1800451. A low occurrence of the BB rs1800450 genotype in sick and healthy children was revealed, which may be associated with early mortality or disability due to severe infections with severe MBL deficiency. Homozygotes for the mutant allele C of the rs1800451 MBL2 polymorphism were not found in any of the comparison groups, which indicates a rare distribution of this allele in Caucasian populations.

Conclusion. The present study showed that polymorphisms in the MBL2 gene play a predisposing role in the development of diseases of the bronchopulmonary system using the example of asthma.

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About the authors

I. V. Marchenko

Krasnoyarsk Science Center of the Siberian Branch of the Russian Academy of Sciences

Author for correspondence.
Email: smarinv@yandex.ru
ORCID iD: 0000-0001-9795-2056
Russian Federation, Krasnoyarsk

K. V. Afonicheva

Krasnoyarsk Science Center of the Siberian Branch of the Russian Academy of Sciences

Email: smarinv@yandex.ru
ORCID iD: 0000-0002-5006-0429
Russian Federation, Krasnoyarsk

S. Yu. Tereshchenko

Krasnoyarsk Science Center of the Siberian Branch of the Russian Academy of Sciences

Email: smarinv@yandex.ru
ORCID iD: 0000-0002-1605-7859

Doctor of Medical Sciences, Professor

Russian Federation, Krasnoyarsk

M. V. Smolnikova

Krasnoyarsk Science Center of the Siberian Branch of the Russian Academy of Sciences

Email: smarinv@yandex.ru
ORCID iD: 0000-0001-9984-2029

Candidate of Biological Sciences

Russian Federation, Krasnoyarsk

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