Background: Osreopenia is common in patients with celiac disease and is bel
ieved to result from malnutrition. Osteoporosis in otherwise healthy indivi
duals 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 ge
ne 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 polymor
phisms in 111 unrelated newborns served as controls. Osteopenia was determi
ned by means of ultrasound measurements of the calcaneus (n = 78). Bone tur
nover was estimated by osteocalcin determination (n = 60). Results: There w
as no difference in the frequency of the VDR gene polpmorphisms 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 o
f the VDR gene frequencies in these patients compared with those with norma
l ultrasound results or controls. Bone turnover was higher in patients with
out a gluten-free diet (P = 0.02). Again there was no association with any
particular VDR gene. Conclusions: Patients with celiac disease frequently h
ave ostropenia, which is not related to any of the determined genes within
the VDR.