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Table 1 Examples of genome-wide linkage studies of osteoporosis and related traits*

From: Genome-wide approaches for identifying genetic risk factors for osteoporosis

Study participants No. of markers Phenotype Results Refs
3,730 men and 4,374 women from the Framingham Osteoporosis Study 209,546 SNPs. Genotypic call rates ≥97%, HWE P ≥ 0.01; MAF ≥0.2 Hip and spine BMD heel ultrasound, geometric indices of the hip For BMD, 9p and 11p, LOD ≥3.0; for ultrasound, 4p, LOD = 3.9, 16p, LOD = 3.8, 22p, LOD = 4.0; for femoral neck width, 7p, LOD ≥5.0 [23]
4,498 individuals from 451 pedigrees 410 TBLM and spine BMD in women 15q13, LOD = 4.86 [19]
   TBLM and spine BMD 7p22, LOD >2.2; Xq25, LOD >3.5 [19]
   TBLM and BMD at both spine and hip in women 7q32, LOD = 2.67 [19]
   TBLM and BMD at both spine and hip in men 7q21, LOD = 2.52; 13p11, LOD = 325 [19]
1,323 individuals from 207 extended Icelandic families 1,100 Hip BMD 16q, LOD = 1.99 [16]
   Spine BMD 18p, LOD = 2.12 [16]
664 individuals from 29 Mexican-American families 416 Forearm BMD 4p, LOD = 4.33; 12q, LOD = 2.35 [17]
   Trochanter BMD in both men and women 6p, LOD = 2.27 [17]
   Neck BMD only in men 2p, LOD = 3.98 [17]
   Trochanter BMD only in men 13q, LOD = 3.46 [17]
11,842 individuals from 9 groups Varied between 270 and 1,008 Lumbar spine BMD only in women; lumbar spine BMD in both women and men; femoral neck BMD LOD >1.6 for 1p13.3-q23.3, 12q24.31-qter, 3p25.3-p22.1, 11p12-q13.3, 1q32-q42.3, 18p11-q12.3, 9q31.1-q33.3, 17p12-q21.33, 14q13.1-q24.1, 9q21.32-q31.1, and 5q14.3-q23.2 [22]
  1. *HWE P, Hardy-Weinberg Equilibrium P-value; LOD, logarithm of odds; MAF, minor allele frequency; TBLM, total body lean mass.