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] |
| Â | Â | TBLM and spine BMD | 7p22, LOD >2.2; Xq25, LOD >3.5 | [19] |
| Â | Â | TBLM and BMD at both spine and hip in women | 7q32, LOD = 2.67 | [19] |
| Â | Â | 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] |
| Â | Â | 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] |
| Â | Â | Trochanter BMD in both men and women | 6p, LOD = 2.27 | [17] |
| Â | Â | Neck BMD only in men | 2p, LOD = 3.98 | [17] |
| Â | Â | 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] |