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
(MIM 120150)
Procollagen type I alpha 1 rs1061237, rs2277632, rs2586488, rs2075555, rs2075559 5 / (5) 17q21.3-q22.1 dOI, eOST, fEDS
(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
(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
(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
(MIM 147440)
Insulin like growth factor rs2195240, rs17796225, rs5009837, rs6214, rs7136446, rs5742629, rs10735380, rs4764697, rs11111272, rs9308315, rs12821878, rs2373721, rs10778176 13 / (13) 12q22-q23 eOST
(MIM 147620)
Interleukin 6 rs1554606, rs2069832, rs13306435c, rs11544633c, rs2069840, rs2069860b 3 / (6) 7q21 hBMD
(MIM 190180)
Transforming growth factor, beta-1 rs8179181 1 / (1) 19q13.2 eOST
(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
(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
(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
(MIM 603499)
Activator of Nuclear Factor k B rs1805034 1 / (1) 18q22.1 eOST
(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
(MIM 122500)
Corticosteroid binding globulin rs2281518, rs11160168, rs2144834, rs11629171, rs941599, rs11622970 a, rs1042394, rs2144835, rs2281519, rs1998056 9 / (10) 14q32.1 oCWP
(MIM 604270)
Low density lipoprotein receptor-related protein 4 rs2306033 1 / (1) 11p11 eOST
(MIM 603506)
Low density lipoprotein receptor-related protein 5 rs3736228, rs4988300a, rs4988321b 1 / (Jones, Bovee) 11q13.4 eOST, nOPS
(MIM 112261)
Bone morphogenetic protein 2 s1980499, rs2273073, rs235764, rs15705 4 / (4) 20p12.3 eOST
(MIM 612115)
Rho guanine nucleotide exchange factor GEF 3 rs7646054, rs983739, rs1110866 3 / (3) 3p21-p13 eOST
Total SNPs 220 / (268)
Lower line- SNPs excluded from the statistical analysis, from the following reasons:
- Not in HWE (Hardy-Weinberg Equilibrium)
- MAF<10%
- Not polymorphic Bone pathology and other disorders-
OI- Osteogenesis imperfecta
OST- Osteoporosis,
EDS- Ehlers-Danlos syndrome
OSA- Osteoarthritis
BMD- Bone mineral density
OSP- Osteopenia
CL2- Chondrocalcinosis 2
CRD- Craniometaphyseal Dysplasia
BTB- Brachydactyly type B
RRS- Recessive Robinow Syndrome
OPS- Osteoporosis-Pseudoglioma syndrome
CWP- widespread pain disorder.