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


  • T. Yе. Shumna Zaporizhzhia State Medical University, Ukraine,
  • T. O. Levchuk Zaporizhzhia State Medical University, Ukraine,
  • O. M. Kamyshnyi Zaporizhzhia State Medical University, Ukraine,



allelic genes, genotyp, collagen, thinness, babies


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.



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Ensembl Project Retrieved from;r=17:50203129-50204129;v=rs1107946;vdb=variation;vf=362559692.


How to Cite

Shumna, T. Y., Levchuk, T. O., & Kamyshnyi, O. M. (2019). Analysis of COL1A1_1 gene (rs1107946) polymorphism as a risk factor for low birth weight. Zaporozhye Medical Journal, (4).



Original research