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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Schlattmann, Peter / Tate, Jillian R. / Tsongalis, Gregory J.

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Low-density lipoprotein receptor-related protein 5 and vitamin D receptor gene polymorphisms in relation to vitamin D levels in menopause

Katerina Zajickova1 / Martin Hill2 / Marketa Vankova3 / Ivana Zofkova4

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Corresponding author: Katerina Zajickova, Institute of Endocrinology, Národní 8, Prague 1, 116 94 Czech Republic Phone: +420-2-24905111; Fax: +420-2-24905325,

Citation Information: Clinical Chemical Laboratory Medicine. Volume 44, Issue 9, Pages 1066–1069, ISSN (Online) 1437-4331, ISSN (Print) 1434-6621, DOI: 10.1515/CCLM.2006.204, September 2006

Publication History

Received:
January 12, 2006
Accepted:
June 26, 2006

Abstract

Background: The low-density lipoprotein receptor-related protein 5 (LRP5) gene has been recently identified as a novel candidate for osteoporosis. The c.4037C>T polymorphism in the LRP5 gene has been associated with bone mass variance in general population. In contrast, the IVS8+443G>A polymorphism in the vitamin D receptor gene (VDR) has not been investigated in relation to bone metabolism. The aim of the present study was to determine VDR IVS8+443G>A and LRP5 c.4037C>T polymorphisms in a cohort of 165 perimenopausal women and to associate the genotypes with biochemical and densitometric bone parameters in a subset of 112 postmenopausal women.

Methods: Both polymorphisms were assessed by restriction analysis of the PCR product. Calcium, parathyroid hormone, vitamin D metabolites and bone mineral density (BMD, g/cm2) at the hip and in the spine (L1–L4) were examined.

Results: The genotype frequencies of both IVS8+443G>A (UU 75.2%, Uu 23%, uu 1.8%) and c.4037C>T (CC 73.9% TC 23.6%, TT 2.4%) were comparable to other Caucasian female cohorts. Serum 25OH vitamin D levels, assessed in only 63 probands, were significantly associated with VDR genotypes (ANCOVA, p≤0.0027). We did not find any associations between LRP5 genotypes and bone or hormonal characteristics.

Conclusions: VDR IVS8+443G>A polymorphism was significantly associated with circulating 25OH vitamin D in postmenopausal Caucasian women. The role of candidate gene polymorphisms in the vitamin D metabolic pathway requires further investigation.

Clin Chem Lab Med 2006;44:1066–9.

Keywords: 25OH vitamin D; low-density lipoprotein receptor-related protein 5 gene; postmenopausal bone; single nucleotide polymorphisms; vitamin D receptor gene

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