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)
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 imperfectaOST- Osteoporosis,EDS- Ehlers-Danlos syndromeOSA- OsteoarthritisBMD- Bone mineral densityOSP- OsteopeniaCL2- Chondrocalcinosis 2CRD- Craniometaphyseal DysplasiaBTB- Brachydactyly type BRRS- Recessive Robinow SyndromeOPS- Osteoporosis-Pseudoglioma syndromeCWP- widespread pain disorder.