Supplementary Table 1 List of the SNPs within the candidate genes which were analyzed for SF, their chromosomal loci, and their bone associated pathologies or other disorders. |
Gene symbol |
Gene |
SNPs |
SNPs analyzed / (total SNPs) |
Chrom. loci |
Bone pathology/other disorders |
COL1A1 (MIM 120150) |
Procollagen type I alpha 1 |
rs1061237, rs2277632, rs2586488, rs2075555, rs2075559 |
5 / (5) |
17q21.3-q22.1 |
dOI, eOST, fEDS |
COL1A2 (MIM 120160) |
Procollagen type I alpha 2 |
rs420257, rs42518a, rs2521206, rs2621212, rs411717, rs6465412, rs369982, rs388625, rs11764718, rs42522, rs42531, rs2521205, rs1858822, rs42526, rs2621215, rs42517, rs413826 |
16 / (17) |
7q22.1 |
dOI, eOST, fEDS |
ESR1 (MIM 133430) |
Estrogen receptor alpha |
rs3020434, rs4583998a, rs9340799, rs3003924a, rs1643821, rs12199722, rs4870062, rs3778099, rs7755185, rs11155819, rs827420, rs2982712a, rs9322331, rs3020369, rs2077647, rs4870061, rs827421, rs3020404, rs9340933c, rs3020382, rs3020376a, rs6911230a, rs12662655c, rs3020370, rs3020394, rs6902771, rs3853248a, rs1709184, rs532010, rs3798577, rs9479130, rs1884052, rs2982896a, rs1709183, rs3020407, rs3844508a, rs4870056, rs1884051, rs2347867, rs9340835a, rs3020414c, rs2474148, rs1709182, rs3138774, rs2234693, rs9340954, rs1999805a |
34 / (47) |
6q25.1 |
eOST, gOSA |
VDR (MIM 601769) |
Vitamin D receptor |
rs40734735, rs4334089, rs4237855a, rs1540339, rs2853564, rs3890734a, rs4760648, rs2239179, rs2248098, rs2525044, rs2239182, rs2107301, rs7136534, rs7299460, rs731236a, rs2254210, rs987849, rs4328262, rs11168287, rs7975232, rs10783219, rs38195845 |
19 / (22) |
12q13.11 |
eOST |
IGF1 (MIM 147440) |
Insulin like growth factor |
rs2195240, rs17796225, rs5009837, rs6214, rs7136446, rs5742629, rs10735380, rs4764697, rs11111272, rs9308315, rs12821878, rs2373721, rs10778176 |
13 / (13) |
12q22-q23 |
eOST |
IL6 (MIM 147620) |
Interleukin 6 |
rs1554606, rs2069832, rs13306435c, rs11544633c, rs2069840, rs2069860b |
3 / (6) |
7q21 |
hBMD |
TGF-β1 (MIM 190180) |
Transforming growth factor, beta-1 |
rs8179181 |
1 / (1) |
19q13.2 |
eOST |
NR3C1 (MIM 138040) |
Glucocorticoid receptor |
rs12655166, rs4244032, rs852980c, rs9324911c, rs9324916, rs2963155c, rs6877893, rs258751c, rs2918417, rs7701443, rs852979, rs10482682, rs17100289, rs9324924, rs12656106, rs4607376, rs33388 |
13 / (17) |
5q31.3 |
eOST, iOSP |
CALCR (MIM 114131) |
Calcitonin receptor |
rs13226124, rs12154667, rs7783961, rs12666751c, rs2301680a, rs2214213, rs10237272, rs1548457, rs9656015, rs6465381, rs2299249, rs1548456, rs1801197, rs17788132, rs10282132b, rs10488551, rs2051748, rs12666831, rs2188805, rs757033, rs7790825, rs6970701b, rs2283002c, rs972978, rs2283004, rs9641123 |
21 / (26) |
7q21.3 |
eOST |
ANKH (MIM 605145) |
Progressive ankylosis protein homolog |
rs706293, rs17251763, rs258219, rs879253, rs1061813, rs31916, rs826188a, rs153930, rs1004673, rs258226, rs2453327, rs4701616, rs826352, rs10513186, rs1374080, rs2921600, rs875525, rs31912, rs1353258, rs31934, rs28005, rs379016, rs258231, rs1620976, rs10052744, rs40970, rs27353, rs31989a, rs17317655, rs3006069, rs1550826, rs697565, rs697571, rs744165, rs2454873, rs1697124, rs13170282c, rs4702049c, rs412056, rs258360a, rs398961, rs31911 |
37 / (42) |
5p15.1 |
hBMD, jCL2, kCRD |
TNFRSF11A (MIM 603499) |
Activator of Nuclear Factor k B |
rs1805034 |
1 / (1) |
18q22.1 |
eOST |
ROR2 (MIM 602337) |
Receptor tyrosine kinase-like orphan receptor 2 |
rs10125466, rs7031729a, rs10992075, rs7869182, rs10761134, rs2312735a, rs4073735, rs10992149, rs7855522, rs6479385a, rs10761130a, rs7029814, rs9409461, rs10820921, rs10992145, rs7038397, rs11789973, rs7874148, rs4639579a, rs7037255, rs7039620, rs4467996, rs1534533, rs10992124, rs4744105a, rs4744107, rs7858435, rs10992123a, rs4744113, rs16907725, rs12683181, rs4743855, rs9774945, rs12685556c, rs9409652, rs10992072, rs10761129a, rs6479386, rs3905385, rs7021744, rs10992065, rs12376130, rs1881389a, rs4237215, rs7871522c, rs7863557, rs10992063, rs12554679, rs4595189, rs2141368, rs10992158 |
40 / (51) |
9q22 |
lBTB, mRRS |
CBG (MIM 122500) |
Corticosteroid binding globulin |
rs2281518, rs11160168, rs2144834, rs11629171, rs941599, rs11622970 a, rs1042394, rs2144835, rs2281519, rs1998056 |
9 / (10) |
14q32.1 |
oCWP |
LRP4 (MIM 604270) |
Low density lipoprotein receptor-related protein 4 |
rs2306033 |
1 / (1) |
11p11 |
eOST |
LRP5 (MIM 603506) |
Low density lipoprotein receptor-related protein 5 |
rs3736228, rs4988300a, rs4988321b |
1 / (Jones, Bovee) |
11q13.4 |
eOST, nOPS |
BMP2 (MIM 112261) |
Bone morphogenetic protein 2 |
s1980499, rs2273073, rs235764, rs15705 |
4 / (4) |
20p12.3 |
eOST |
ARHGEF3 (MIM 612115) |
Rho guanine nucleotide exchange factor GEF 3 |
rs7646054, rs983739, rs1110866 |
3 / (3) |
3p21-p13 |
eOST |
Total SNPs |
220 / (268) |
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Lower line- SNPs excluded from the statistical analysis, from the following reasons: |
- Not in HWE (Hardy-Weinberg Equilibrium) |
- Not polymorphic Bone pathology and other disorders- |
OI- Osteogenesis imperfecta |
EDS- Ehlers-Danlos syndrome |
BMD- Bone mineral density |
CRD- Craniometaphyseal Dysplasia |
BTB- Brachydactyly type B |
RRS- Recessive Robinow Syndrome |
OPS- Osteoporosis-Pseudoglioma syndrome |
CWP- widespread pain disorder. |
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