The effect of the COL1A1 gene on osteopenia in preterm infants conceived via in vitro fertilization

Background. Osteopenia is a pathological conditionmore most often observed in preterm newborns with a birth weight under 1500 g. It is characterized not only by vitamin D deficiency but also by insufficent calcium and phosphorous levels. Understanding hereditary risk factors for low vitamin D₃ may have great practical value for predicting bone metabolism disorders in preterm infants.

Objective. This study aimed to investigate the association between genotypic and allelic frequencies of rs1800012 polymorphism in the COL1A1 gene and predisposition to osteopenia in preterm infants conceived through artificial insemination.

Material and methods. The study involved 225 preterm babies divided into two categories depending on the method of conception. The main consisted of children conceived via in vitro fertilization (IVF), while the control category included children conceived naturally. The analysis focused mainly on the COL1A1 gene in these observation groups.

Results. In a cohort of preterm infants conceived by IVF, there was a significant increase in homogeneity of T/T genotype (χ² = 8.13, p = 0.0053) and in the non-protective T allele (χ² = 7.15, p = 0.0083) within the polymorphic variant rs1800012 of the COL1A1 gene. The risk of osteopenia associated with the rs1800012 variant was identified in 46% of children in the IVF group and in 34% of children in the control group.

Conclusion. The identified genetic differences are hereditary and are not associated with the IVF procedure itself. Understanding the genetic determinants that contribute to decreased vitamin D₃ may play a key role in predicting osteopenia in preterm infants.

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