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Influence of genetic polymorphisms on bone disease of preterm infants

Simone Funke1, Eva Morava, Márta Czakó

  • 1Department of Obstetrics and Gynecology, Medical School, University of Pécs, 7624 Pécs, Hungary. simone.funke@aok.pte.hu

Pediatric Research
|September 22, 2006
PubMed

Insights

Genetic variations in vitamin D receptor, estrogen receptor, and collagen genes are linked to bone disease in premature infants. A low number of thymine-adenine repeats in the estrogen receptor gene was significantly associated with increased risk.

Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • Bone disease is a significant complication in very low birth weight (VLBW) infants.
  • Osteoporosis in adults is linked to polymorphisms in vitamin D receptor (VDR), estrogen receptor (ER), and collagen Ialpha1 (COLIA1) genes.
  • Limited data exists on these gene polymorphisms' role in premature infant bone disease.

Purpose of the Study:

  • To investigate the association between VDR, ER, and COLIA1 gene polymorphisms and bone disease in VLBW infants.
  • To identify genetic risk factors for bone disease in premature infants.

Main Methods:

  • Studied 65 VLBW infants for VDR, ER, and COLIA1 gene allelic polymorphisms.
  • Assessed bone disease using biochemical markers (serum alkaline phosphatase, osteocalcin) and urinary markers (calcium, pyridinium crosslink), alongside radiological signs.
  • Utilized logistic regression to analyze correlations.

Main Results:

  • 30.8% of VLBW infants were diagnosed with bone disease.
  • A statistically significant correlation was found between the thymine-adenine [(TA)(n)] allelic variant of the ER gene and bone disease.
  • Infants with bone disease more frequently had a low number of (TA)(n) repeats (<19), while those without bone disorder more often had a high number of repeats (>18).
  • Significant interaction between VDR and COLIA1 genotypes was observed (p = 0.009).
  • Bone disorder correlated with male gender, lower gestational age, homozygous high (TA)(n) repeats, and VDR-COLIA1 genotype interaction.

Conclusions:

  • The thymine-adenine repeat polymorphism in the estrogen receptor gene is associated with bone disease in very low birth weight infants.
  • Interactions between VDR and COLIA1 genotypes, male gender, and lower gestational age are significant factors in preterm infant bone disorder.

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