Analysis of COL1A1_1 gene (rs1107946) polymorphism as a risk factor for low birth weight

Abstract

Objective. Identification of the CA genotype of the (rs1107946) polymorphism of COL1A1_1 gene and the pattern of allele distribution in low birth weight babies.Materials and methods. A total of 168 babies were examined. The babies were divided into 3 groups depending on the birth weight: the 1st group comprised of 52 babies (birth weight was 1500–1999 g), the 2nd group – 76 babies (birth weight was 2000–2499 g) and the 3rd group – 40 babies (birth weight was more than 2500 g, that is they had normal birth weight). Polymerase chain reaction genotyping method was used.Results. It was found that the frequency of the C allele detection was equal to 39.60 %, the A allele – 60.42 %, chi-square (df = 1) 29.17, P < 0.05. At the same time, the homozygous AA genotype was observed significantly more often and amounted to 52.98 % versus 32.14 % of the CC genotype cases. The heterozygous CA genotype was detected only in 14.9 % of children, significantly less than homozygous genotypes CC (df = 1) 13.92, P < 0.05 and AA (df = 1) 54.38, P <0.05. The AA genotype of the (rs1107946) polymorphism of COL1A1_1 gene was found among babies of the 1st and 2nd groups in 61.53 % and 52.63 %, CC – 23.08 % and 31.58 %, CA – 15.38 % and 15.79 % of cases, respectively. The CC genotype of the polymorphism was detected almost in half of babies from the 3rd group (47.5 %), while the AA genotype was detected only in 35.0 % and the CA genotype – in 17.5%.Conclusions. The molecular and genetic study of the CA genotype of the (rs1107946) polymorphism of COL1A1_1 gene showed that the determination of the A allele frequency was significantly higher than the C allele among the examined babies. Consequently, the homozygous AA genotype was significantly more common than the CC genotype. The results of the study indicated the prognostic value of the A allelic gene for the risk of low birth weight – that is, the lower birth weight (1500–1999) was found in babies with homozygous AA genotype.