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Genetic factors account for the majority of bone microstructure variability



DOI:10.1038/bonekey.2015.70

This study recruited 66 pairs of white female dizygotic twins and 95 pairs of white female monozygotic twins, all aged 40-61. Components of bone microstructure were measured using high-resolution peripheral quantitative CT scanning and compared between the two groups to determne the proportion of variation in bone microstructure that was due to genetic or environmental factors.

The genetic contribution to variation in cortical medullary cross sectional area (total skeleton and distal tibia) was the highest; 72-81%. Genetic factors also played a major role in regulating total cortical porosity (61-67%) and trabecular volumetric bone mineral density (51%). All comparisons and assumptions were made according to the methodology for the classic twin model.

Measurement of serum levels of bone remodeling markers osteocalcin, serum collagen type 1 cross-linked C-telopeptide (CTX) and total procollagen type 1N-terminal propeptide (P1NP) also confirmed that genetic factors accounted for 55-62% of the variance in bone turnover observed.

Editor’s comment: This twin study confirms an important contribution of heritability, hence additive genetic factors, to bone mirostructure, including cortical porosity. Genome-wide association studies to identify the genetic markers associated with differences in bone microstructure are ongoing.


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