Analysis of two functional polymorphisms in the LRP5 gene in relation to bone mineral density and fracture risk in Maltese postmenopausal women

Abstract

OBJECTIVE: The low-density lipoprotein receptor-related protein 5 (LRP5) is involved in osteoblast differentiation and bone formation, making it an important determinant of bone mass and strength. The influence of two functional missense single nucleotide polymorphisms (SNPs) A1330V (rs3736228; C>t) and V667M (rs4988321; G>a) were analysed in relation to BMD and different low-trauma fractures in Maltese postmenopausal women.

MATERIALS AND METHODS: 1,040 women aged 40 to 79 years were recruited and their BMD measurements were performed by dual-energy X-ray absorptiometry. Subjects without a history of a fragility fracture were subdivided in three groups: normal (n=228), osteopenic (n=266) or osteoporotic (n=280) according to their BMD results. Women with a fracture history were classified as cases (n=266). Genotyping of the A1330V polymorphism was performed by PCR followed by restriction enzyme digest, whereas real-time PCR was performed for the V667M SNP.

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