Table 1.
Z-score values, age and cohort of the participant women.
Table 2.
Genotypes at LRP5 and DKK1.
Figure 1.
Mutation p.Y74F of DKK1 may be responsible for high bone mass in family HBM15.
(A) Alignment of a partial human DKK1 sequence with those of several vertebrates. The tyrosine-74 residue is boxed. (B) Pedigree of case HBM15 (arrow): filled symbols indicate a high bone mass phenotype. Numbers inside symbols are sum Z-score values.
Figure 2.
Distribution of genetic risk scores in BARCOS and in the HBM group.
Distributions of genetic risk scores among 1001 BARCOS individuals (A) and 11 HBM probands (B), and their relationships with BMD or Z-score values, are shown. Histograms describe counts of individuals in each genetic score category (left axis scale); (A) From left to right, exact numbers of individuals in each bin are: 88, 222, 355, 238 and 98. Triangles (right axis scale) represent LS-BMD means and vertical bars depict their standard errors; (B) Diamonds represent mean Z-score values. (C) Pedigree of family HBM9. Arrow indicates the proband HBM9; filled symbols represent presence of the HBM phenotype; numbers below symbols denote sum Z-scores; NA: not available.
Figure 3.
Analysis of mRNA levels of several candidate genes in relation to BMD levels.
(A–D) Trend of correlation between Z-score values and gene expression levels of (A) TWIST1, (B) IL6R, (C) DLX3 and (D) PPARG. (E) One of the HBM samples presented an expression level of SOX6 5-fold decreased in relation to the mean of five control individuals. (G) The other HBM sample presented an expression level of RUNX2 that was 6-fold increased.
Table 3.
Eleven genes selected from the RealTime Custom Panel1.