Дослідження значення поліморфізму rs1107946 гена COL1A1 щодо розвитку міопії у дітей Подільського регіону України

Малачкова, Н. В.; Yatsenko, D. A.; Lyudkevich, G.P.; Shkarupa, V.N.

doi:10.22141/2309-8147.7.1.2019.163004

Cited by 1 publication

(1 citation statement)

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“…Thus, the studies which showed the high frequency of the SNPrs1107946 variant allele, the number of persons in the control groups was 20 and 30, respectively. Thus, the results of genotyping SNPrs1107946 of the COL1A1 gene among children obtained in our study do not differ from the European average population data and coincide with the data of prevalence of allelic variants in Ukraine obtained in large samplings [32].…”

Section: Discussionsupporting

confidence: 85%

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

2019

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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 ...

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Section: Discussionsupporting

confidence: 85%