Relation of common allelic variation at vitamin D receptor locus to bone mineral density and postmenopausal bone loss: cross sectional and longitudinal population study

BMJ 1996;313:586-590 (7 September)

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Relation of common allelic variation at vitamin D receptor locus to bone mineral density and postmenopausal bone loss: cross sectional and longitudinal population study

H L Jorgensen, research physician,^a J Scholler, head of molecular biology,^a J C Sand, biologist,^a M Bjuring, biologist,^a C Hassager, scientific consultant,^a C Christiansen, head of institute ^a

^a Centre for Clinical and Basic Research, Ballerup Byvej 222, Ballerup, DK-2750 Denmark

Correspondence and requests for reprints to: Dr Jorgensen.

Abstract

Objective: To determine whether common allelic variation atthe vitamin D receptor locus is related to bone mineral densityand postmenopausal bone loss.
Design: Cross sectional and longitudinal population study.
Setting: Outpatient clinic in research centre.
Subjects: 599 healthy women aged 27 to 72 and 125 women withlow bone mass aged 55-77 had bone mineral density measured oncein the cross sectional study. 136 women aged 45-54 were followedup for 18 years in the longitudinal study.
Main outcome measures: Bone mineral density measured at thelumbar spine, hip, and forearm and rate of bone loss at differenttimes over 18 years in relation to vitamin D receptor genotypeas defined by the endonucleases ApaI, BsmI, and TaqI.
Results: Vitamin D receptor genotype was not related to bonemineral density at any site. The maximum difference betweenhomozygotes was 1.3% (P = 0.33, n = 723). Women with low bonemineral density had almost the same genotype frequencies asthe women with normal bone mineral densities. Vitamin D receptorgenotype was not related to early postmenopausal bone loss fromage 51 to 53 (mean (SD) total loss at the lower forearm -3.6%(3.6%)), late postmenopausal bone loss from age 63 to 69 (atthe hip -6.2% (8.7%)), or to long term postmenopausal loss fromage 51 to 69 (at the lower forearm -24.5% (11.4%)).
Conclusion: Common allelic variation at the vitamin D receptorlocus as defined by the endonucleases ApaI, BsmI, and TaqI isrelated neither to bone mineral density nor to the rate of boneloss in healthy postmenopausal Danish women.

Key messages

Twin studies show a strong genetic component in the development of osteoporosis
Finding a genetic marker for this disease would be important in identifying patients who could benefit from preventive treatment
This study found that the vitamin D receptor genotypes previously suggested as accounting for up to 75% of the genetic effect on bone density did not affect bone mineral density in postmenopausal women
Vitamin D receptor genotype is not related to postmenopausal bone loss

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