Polymorphism of the vitamin D receptor gene (VDR) has been linked to b
one mineral density in twins, postmenopausal osteoporosis, and premeno
pausal woman. We examined the possibility that the bone mass in hemodi
alysis (HD) patients might be determined by VDR. The study consisted o
f 229 HD patients with a mean age of 53.3 years (range 21 to 83), who
were dialyzed three times a week fur an average of 8.65 (range 0.2 to
24) years. We determined their VDR using DNA of peripheral white blood
cells by restriction enzyme BsmI and the polymerase chain reaction-re
striction fragment length polymorphism method. Bone mineral content (B
MC) was estimated at 1/3 of the radius using dual energy X-ray bone ab
sorptiometry, and expressed in z-scores standardized by gender and age
. Distributions of VDR in this hemodialysis population were BE (9.9%),
Bb (13.1%), and bb (77.0%), showing no significant different from tho
se in 105 healthy volunteers (BE, 7.6%; Bb, 13.3%; and bb, 79.0%). Mul
tiple regression analysis revealed that gender, age, duration on HD, a
nd serum osteocalcin are major determinants of BMC (r = 0.762, P < 0.0
01), while VDR and serum parathyroid hormone are not. In a subgroup wi
th younger (< 65 years) patients dialyzed for less than 8.65 years, th
e z-score of BMC of patients with BE allele was less than those with B
b and bb allele (N = 77, P = 0.020). We conclude that vitamin D recept
or polymorphism is not one of the main determinants of BMC of HD patie
nts, though it might partially effect bone mass in a subgroup of young
er HD patients with shorter HD histories. Further studies with longitu
dinal observation will be needed to confirm these possibilities.