Koraszülöttek csontanyagcsere-betegsége és genetikai polimorfizmusok

Translated title of the contribution: Metabolic bone disease in premature infants and genetic polymorphisms

Simone Funke, Éva Morava, Márta Czakó, Gabriella Vida, Tibor Ertl, G. Kosztolányi

Research output: Contribution to journalArticle

Abstract

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 Iα1 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 Iα1 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.

Original languageHungarian
Pages (from-to)1957-1965
Number of pages9
JournalOrvosi Hetilap
Volume148
Issue number41
DOIs
Publication statusPublished - Oct 14 2007

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Very Low Birth Weight Infant
Calcitriol Receptors
Metabolic Bone Diseases
Genetic Polymorphisms
Premature Infants
Logistic Models
Genotype
Collagen Receptors
Estrogen Receptors
Hospitalization
Bone and Bones
Control Groups

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Koraszülöttek csontanyagcsere-betegsége és genetikai polimorfizmusok. / Funke, Simone; Morava, Éva; Czakó, Márta; Vida, Gabriella; Ertl, Tibor; Kosztolányi, G.

In: Orvosi Hetilap, Vol. 148, No. 41, 14.10.2007, p. 1957-1965.

Research output: Contribution to journalArticle

Funke, S, Morava, É, Czakó, M, Vida, G, Ertl, T & Kosztolányi, G 2007, 'Koraszülöttek csontanyagcsere-betegsége és genetikai polimorfizmusok', Orvosi Hetilap, vol. 148, no. 41, pp. 1957-1965. https://doi.org/10.1556/OH.2007.28179
Funke, Simone ; Morava, Éva ; Czakó, Márta ; Vida, Gabriella ; Ertl, Tibor ; Kosztolányi, G. / Koraszülöttek csontanyagcsere-betegsége és genetikai polimorfizmusok. In: Orvosi Hetilap. 2007 ; Vol. 148, No. 41. pp. 1957-1965.
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abstract = "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 Iα1 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 Iα1 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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AU - Morava, Éva

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AU - Vida, Gabriella

AU - Ertl, Tibor

AU - Kosztolányi, G.

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N2 - 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 Iα1 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 Iα1 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.

AB - 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 Iα1 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 Iα1 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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KW - Genetic polymorphisms

KW - Metabolic bone disease of premature infants

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