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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Calcaneal ultrasound attenuation and vitamin-D-receptor genotypes in celiac disease.

BACKGROUND: Osteopenia is common in patients with celiac disease and is believed to result from malnutrition. Osteoporosis in otherwise healthy individuals is related to genetically determined polymorphisms within the vitamin-D-receptor ( VDR) gene. We hypothesized that in celiac patients particular genes of the VDR enhance the susceptibility for malnutrition-associated low-bone density. METHODS: We determined allelic frequencies within the VDR gene by restriction fragment length polymorphism analysis in 92 patients with celiac disease (age, 15-83 years). Thirty-eight patients were on a gluten-free diet; 54 patients did not adhere to a diet. The determined VDR polymorphisms in 111 unrelated newborns served as controls. Osteopenia was determined by means of ultrasound measurements of the calcaneus (n = 78). Bone turnover was estimated by osteocalcin determination (n = 60). RESULTS: There was no difference in the frequency of the VDR gene polymorphisms in patients with celiac disease compared with controls. Adjusted ultrasound measures of the calcaneus were low in 47% of patients, but there was no difference of the VDR gene frequencies in these patients compared with those with normal ultrasound results or controls. Bone turnover was higher in patients without a gluten-free diet (P = 0.02). Again, there was no association with any particular VDR gene. CONCLUSIONS: Patients with celiac disease frequently have osteopenia, which is not related to any of the determined genes within the VDR.[1]


  1. Calcaneal ultrasound attenuation and vitamin-D-receptor genotypes in celiac disease. Vogelsang, H., Suk, E.K., Janisiw, M., Stain, C., Mayr, W.R., Panzer, S. Scand. J. Gastroenterol. (2000) [Pubmed]
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