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Updated: Jul 11, 2026

Murine Hind Limb Long Bone Dissection and Bone Marrow Isolation
Published on: April 14, 2016
[Metabolic bone disease in premature infants and genetic polymorphisms]
Simone Funke1, Eva Morava, Márta Czakó
1Pécsi Tudományegyetem, Altalános Orvostudományi Kar Szülészeti és Nogyógyászati Klinika Pécs Edesanyák útja 17. 7624. Simone.funke@aok.pte.hu
Insights
Genetic factors like estrogen receptor gene polymorphisms may increase the risk of metabolic bone disease in very-low-birth-weight infants. These findings highlight potential genetic links to bone health in premature babies.
Area of Science:
- Pediatric Endocrinology
- Genetics
- Bone Metabolism
Background:
- Metabolic bone disease is a significant complication in very-low-birth-weight (VLBW) infants.
- Osteoporosis in adults is linked to polymorphisms in vitamin D receptor, estrogen receptor, and collagen Ialpha1 receptor genes.
Purpose of the Study:
- To investigate the association between metabolic bone disease in VLBW infants and allelic polymorphisms of the vitamin D receptor, estrogen receptor, and collagen Ialpha1 receptor genes.
Main Methods:
- 104 VLBW infants were enrolled.
- Bone formation and resorption markers were measured.
- Radiological assessments of bone health were performed.
Main Results:
- Metabolic bone disease was diagnosed in 28.8% of infants.
- A significant correlation was found between the estrogen receptor gene's (TA)n allelic variant and bone disease, with fewer repeats associated with higher risk.
- Interactions between vitamin D receptor and collagen Ialpha1 receptor genotypes were significant.
- Male gender, longer hospitalization, and specific estrogen receptor genotypes correlated with bone disorder.
Conclusions:
- Genetic polymorphisms, particularly in the estrogen receptor gene, may be associated with the development of metabolic bone disease in VLBW infants.
- Further research into genetic predispositions for bone disorders in premature infants is warranted.
Unlabelled:
Metabolic bone disease is an important complication among infants very-low-birth-weight (< 1500 g). In adults, osteoporosis has been shown to be associated with polymorphisms of vitamin D receptor, estrogen receptor, and collagen Ialpha1 receptor genes.
Aim:
The primary goal of the study was to investigate the possible association between metabolic bone disease and the allelic polymorphisms of these three genes.
Method:
104 infants very-low-birth-weight were enrolled to the study. Bone formation (serum alkaline phosphatase, osteocalcin) and bone resorption (urinary excretion of calcium and pyridinium crosslink) markers were determined and x-rays of the chest and wrist (together with the distal portions of associated long bones) were obtained.
Results:
Thirty infants (28,8%) were diagnosed with metabolic bone disease based on high activity of bone formation, bone resorption markers, and positive radiologic signs. Statistically significant correlation between thymine-adenine repeat [(TA) n ] allelic variant of estrogen receptor gene and bone disease was observed. Infants with metabolic bone disease more often carried low number of repeats [(TA) n < 19] [odds ratio (OR): 5.82, 95% confidence interval (CI): 2.26-14.98]. Significantly higher number of repeats [(TA)n > 18] was found more frequently in the control group (OR: 0.20, 95% CI: 0.05-0.82). Furthermore significant interaction between vitamin D receptor and collagen Ialpha1 receptor genotypes ( p = 0.023) was observed. In a forward stepwise logistic regression model, bone disorder of preterms correlated with male gender ( p = 0.001), duration of hospitalization ( p = 0.007), homozygous allelic variants of high number of (TA) n repeats ( p = 0.025) and interaction between vitamin D receptor (Tt) and estrogen receptor (homozygous allelic variants of low number of repeats) genotype ( p = 0.037).
Conclusion:
The results suggest that the development of metabolic bone disease in infants very-low-birth-weight may be associated with genetic polymorphisms.
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