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Radiology and bone

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G/WEDS/RAB1 GENETIC POLYMORPHISMS AND FRACTURE RISK IN CHILDREN

Z. Blades, W. Carlino, N. Bishop.University of Sheffield, Sheffield, UK

Introduction: Single nucleotide polymorphisms (SNPs) in genes important in bone metabolism have been extensively investigated in adult populations to determine whether specific SNPs increase the risk of fracture, or affect bone mass and density. There have been relatively few such studies in children and data are available only for the effects of some SNPs on bone mass. We hypothesised that SNPs identified in adult premenopausal white women as being associated with increased fracture risk would also be associated with increased fracture risk in children.

Methods: We recruited 93 cases and 32 controls by approaching families attending our A&E department with a history of trauma and suspected bony injury. The children underwent bone densitometry of the hip, spine and total body by DXA (Lunar Prodigy). Buccal brushings were taken to acquire DNA for SNP analysis. We tested for allelic distribution differences between the groups assessing COL1A1 Sp1, COL1A2 PvuII, TGFβ1 c29C>T, OPG g163A>G and MTHFR c677C>T SNP in fracture and non-fracture groups.

Results: For COL1A1, there was a non-significant excess (11.7% v 7.1%) in children with fracture for the TT allele associated with increased fracture risk in adults. For COL1A2, there was a non-significant excess (8.0% v 4.1%) in children with fracture for the CC allele associated with increased fracture risk in adults. For TGFβ1, there was a non-significant excess (46% v 27.6%) in children with fracture for the TT allele associated with increased fracture risk in adults. For OPG there were no homozygous individuals for the GG allele associated with fracture risk in adults. For MTHFR there was no clear trend or difference between the groups. The COL1A1 TT allele was associated with lower bone mass in the lumbar spine (p = 0.043) after adjusting for body size. Homozygosity for the …

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