Abstract
Introduction and Hypothesis: Genetic studies of osteoporosis have analysed single polymorphisms in individual genes with inconclusive results. An alternative approach may involve haplotypes and gene-gene interactions. The aim of the study was to test the association between COLlAl, ESRl, VDR and TGFBl polymorphisms or haplotypes and BMD in Spanish postmeno-pausal women.
Methods: Sixteen polymorphisms were analysed in 719 postmenopausal women. ANOV A, ANCOV A and Xi2 tests were used to perform the statistical analysis.
Results: COLlAl -1997G> T (p=0.04) and TGFBl Leu10Pro (p=0.02) were found to be associated with adjusted lumbar spine BMD (LS BMD). Interactions were observed between: the C0LlAl -1997 Grr and Sp1 polymorphisms (p< 0.0l for LS BMD); and the COLlAl 1663 indelT and VDR ApaI polymorphisms (p< 0.0l for FN BMD). The COLlAl GDs and ESRl LPX haplotypes were associated with FN BMD (p=0.03 and p=0.03).
Conclusion: Polymorphisms at COLlAl and TGFBl and haplotypes at COLlAl and ESRl were associated with BMD in a cohort of postmenopausal Spanish women. Moreover, COLlAl polymorphisms showed significant interactions among them and with the VDR 3’ pol ymorphisms.
Correspondence should be addressed to Ms Larissa Welti, Scientific Secretary, EFORT Central Office, Technoparkstrasse 1, CH-8005 Zürich, Switzerland
