Study of the association of distribution pattern of genotypes of C/A polymorphism of COL1A1_1 collagen gene (RS1107946) with indicators of external breathing in children with bronchial asthma

Abstract

A-research concept and design; B-collection and/or assembly of data; C-data analysis and interpretation; D-writing the article; E-critical revision of the article; F-final approval of the article Purpose. The study of the distribution patterns of allelic genes and genotypes of the C/A polymorphism of the collagen CO-L1A1_1 gene (rs1107946) in children with bronchial asthma, taking into account the indicators of external respiration function. Materials and methods. Molecular-genetic study to determine the C/A polymorphism of the collagen COL1A1_1 gene (rs1107946) was conducted in 125 children from 6 to 18 years, 100 of them with bronchial asthma who were hospitalized in the Allergic Department of the Municipal Non-Profit Enterprise "City Children Hospital No 5 of Zaporizhzhia City Council" and 25 healthy children (control group). There were no differences in age and sex in the comparison groups (P > 0.05).Genotype determination was performed by polymerase chain reaction method according to the instruction (Applied Biosystems, USA) using the samples of total DNA received from whole venous blood using SNP-Screen reagents (manufactured by "Syntol") on amplifier CFX96TM Real-Time PCR Detection Systems ("Bio-Rad laboratories, Inc.", USA). The ventilation function of the lungs was studied by conducting a spirometric study on a computer spirograph "PULMOREM" TU U 33.1-02066769-005-2002 (Kharkiv, Ukraine). To compare the frequencies of alleles and genotypes in different groups, the non-parametric statistical method "2 × 2 Table", the Chi-square (df = 1) was used. Medians and interquartile intervals were also calculated, the two independent groups were compared by the Mann-Whitney criterion, the χ 2 criterion. Non-parametric statistics methods for the licensed software package Statistica for Windows 6.1.RU, serial number АХХR712D833214SAN5, were used to process the obtained study data. Results. Molecular-genetic study of distribution patterns of allelic genes of the C/A polymorphism of the COL1A1_1 collagen gene (rs1107946) in patients with bronchial asthma and in practically healthy children, showed that the allele C was registered with a frequency of 69.5 % and 84.0 %, allele A-30.5 % and 16.0 %; dominant genotype C/C-58 % and 76 %; heterozygous genotype C/A-23 % and 16 %; homozygous genotype A/A-19 % and 8 %, respectively. Children with bronchial asthma with genotype A/A had significantly lower FVC values up to 2.32 (1.55; 3.29), VC max up to 1.69 (1.40; 2.98), FEV 1 up to 1.82 (1.43; 2.98), with genotype C/C-MEF 75 up to 2.34 (1.87; 3.14) when compared with patients with heterozygous genotype A/C, and very low rates of FVC were recorded in 68.75 % of children with bronchial asthma with the A/A genotype against 30.77 % of patients with the A/C genotype and 36.17 % with the C/C genotype (P < 0.05). Conclusion. Homozygous genotype A/A of C/A polymorphism of the COL1A1_1 collagen gene (rs1107946), was associated with more pronounced disorders of ventilatory function of lungs with obstructive breathing type due to impaired ...