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. 2010 Mar 31;31(4):447–505. doi: 10.1210/er.2009-0032

Table 2.

Association studies for osteoporosis-related phenotypes in humans (published between October 2007 and November 2009)

Gene Marker locus Population characteristics Phenotype P value Ref.
ADCY10 16 SNPs 1,692 premenopausal Caucasian women and 715 Caucasian men BMD at LS <0.01 36
ALPL 3 SNPs 360 postmenopausal Hungarian women BMD at LS, total hip and distal radius, non-vertebral fracture NS 137
ALOX5 rs7084793, rs378090, rs3802548 1,688 premenopausal European-American sisters, 512 premenopausal African-American sisters, and 715 European-American brothers BMD at LS and FN ≤0.05 138
ALOX15 rs2619112, rs916055 942 southern Chinese women, with either low or high BMD High BMD in premenopausal women and low BMD in postmenopausal women <0.05 139
rs7220870 (G48924T) 6,752 Caucasian women recruited at four U.S. clinical centers and enrolled into the Study of Osteoporotic Fractures Hip fracture <0.05 12
ANXA6 rs9324679, rs9324677, rs10037814, rs11960458, and haplotypes 443 Korean patients with osteonecrosis of the femoral head and 273 Korean control Osteonecrosis of the femoral head <0.05 140
APC rs459552, rs4705573, rs6594646 862 Caucasian men aged ≥65 yr BMD at LS and FN <0.05 141
AR CAG repeat 299 Swedish men aged 41–76 yr, from the population register in the county of Uppsala BMD at LS, FN, and total body modified by androgen levels <0.05 142
2,693 European men aged 40–79 yr Ultrasound BMD 0.021 143
ARHGEF3 rs7646054 769 Caucasian women from 335 families, recruited in Australia and the UK BMD at LS, FN, and total hip 0.0007–0.041 144
BMP2 rs2273073 (Ser37Ala) 192 Chinese including 57 OPLL patients and 135 controls Occurrence of OPLL in the cervical spine <0.05 145
rs235764 (A125611G) 6,752 Caucasian women recruited at four U.S. clinical centers and enrolled into the Study of Osteoporotic Fractures Vertebral fracture <0.05 12
BMP7 rs17404303 920 European-Americans from 374 Diabetes Heart Study families Quantitative CT at thoracic spine and LS 0.03, 0.02 146
BMPR1B rs1434536, rs3796443 862 Caucasian men aged ≥65 yr BMD at LS <0.05 141
CA8 rs6984526 337 Japanese women with osteoporosis BMD at LS and FN 0.00017, 0.00029 147
CA10 rs2106329 337 Japanese women with osteoporosis BMD at FN 0.00002 147
CALM1 rs12885713 158 patients with idiopathic knee osteoarthritis and 193 controls in a Greek Caucasian population Knee osteoarthritis NS 148
CAR rs2502815 548 healthy Japanese postmenopausal women BMD at LS and total body 0.0185, 0.0416 149
CASR rs1801725 (A986S) 176 premenarche Chinese girls aged 9–11.5 yr Increased BMD at LS and BMD at Ward’s triangle 0.022, 0.049 150
CD40 rs1883832 602 postmenopausal Spanish women BMD at LS and FN, osteopenia or osteoporosis at LS and FN <0.05 151
CLCN7 6 SNPs and 1 VNTR 1,692 healthy premenopausal white sisters aged 33.1 ± 7.2 yr and 715 healthy white brothers aged 33.6 ± 10.9 yr BMD at LS and FN NS 152
CNR2 16 SNPs 574 Caucasians from 126 two- to four-generation pedigrees BMD at radiographic hand breaking bending resistance index 0.007–0.008, 0.001–0.003 153
rs2501431 1,243 Chinese subjects BMD at hip and trochanter 0.02, 0.04 154
COL1A1 rs1800012 (Sp1, +1245G /T) 21 osteoporotic patients with proximal femur fracture and 21 controls BMD at FN, Ward’s triangle, trochanter and total body NS 155
rs2412298 (−1663indelT), rs1800012 (Sp1, +1245G /T) 124 females aged 50 to 70 yr cases and 150 controls from Volga-Ural region Traumatic fracture <0.05 156
(Continued)
Gene
 Marker locus
 Population characteristics
 Phenotype
 P value
 Ref.
rs1107946, rs2412298 (−1663indelT), rs1800012 (Sp1, +1245G /T) 98 consecutive patients including 75 women and 23 men who were admitted to Aberdeen Royal Infirmary with low-trauma hip fractures; 3275 perimenopausal women from the Aberdeen Prospective Osteoporosis Screening Study and 143 postmenopausal women from the same region Material density of the bone core, yield strength, and toughness <0.0001 23
COL1A2 rs42524 2,004 elderly Swedish men BMD at several skeletal sites <0.05 24
COMT rs4680 (Val158met) 2,822 Swedish men aged 75.4 ± 3.2 yr Early fractures (≤50 yr of age) <0.05 157
CRHR1 rs1876828 157 men long-term survived of ALL at St. Jude Children’s Research Hospital BMD at LS 0.02 158
CRTAP rs7623768, rs4076086-rs7623768 haplotype 1080 Chinese females BMD at FN 0.009, 0.003 159
CTR AluI 201 Korean men aged 51.6 ± 11.7 yr QUS <0.05 160
AluI 301 healthy young Caucasian men aged 18–25 yr BMD, BMC, and geometrical areas at specific skeletal sites of the forearm NS 161
CYP1B1 rs1056836 (Val432Leu) 468 Caucasian postmenopausal women (220 from St. Louis, MO, mean age 63.5 ± 0.53 yr; and 248 from Palermo, Italy, mean age 72.9 ± 0.44 yr) BMD at LS and FN 0.03, 0.03 162
rs1056836 (L432V) 124 Japanese women, diagnosed with osteopenia or osteoporosis and taking hormone therapy for 12 months Lumbar BMD and low-density lipoprotein cholesterol before and after hormone therapy <0.05 163
CYP17A1 rs743572, rs743575 2,693 European men aged 40–79 yr Ultrasound BMD 0.018, 0.025 143
CYP19 (TTTA)7-3/ER-α (TA)19 combination, 92 Croatian males aged 21–35 yr BMD at LS 0.02 11
(TTTA)7-3/ER-α (TA)21 combination BMD at LS, FN, and total hip 0.02, 0.02, 0.008
CYP19A1 rs11575899 2,693 European men aged 40–79 yr Ultrasound BMD <0.01 143
rs1062033 1,163 postmenopausal Spanish women BMD at hip <0.05 164
DBP rs222029, rs222020 1,873 Caucasians from 405 nuclear families CSI at FN 0.0019, 0.0042 131
DKK2 rs17037102, rs6827902, rs17037297 344 Australian women with extreme BMD, aged 55–80 and >5 yr postmenopausal BMD, BMC at total hip <0.05 18
DMP1 rs1381632 862 Caucasian men aged ≥65 yr BMD at FN <0.05 141
ENPP1 rs1974201 1,513 unrelated subjects from the Framingham Offspring cohort FNW 3.8 × 10−7 165
ER-α rs2228480 (G2014A) 640 Mexican natives including 70 osteoporotic women, 70 nonosteoporotic women, and 500 subjects from the Mexican population Osteoporosis <0.05 13
rs2234693 (PvuII) 228 premenarche Chinese girls aged 9–11.5 yr BMD at total body and femoral intertrochanter 0.010, 0.038 9
rs2234693 (PvuII), rs9340799 (XbaI) 158 healthy Chinese adolescent girls aged 12–14 yr BMD and bone turnover markers NS 166
rs2234693 (PvuII), rs9340799 (XbaI) 146 Chinese boys aged 13–17 yr BMD at total body, forearm and LS influenced by the first spermorrhea <0.05 10
rs2234693 (PvuII), rs9340799 (XbaI) 42 Turkish including 21 osteoporotic patients with proximal femur fracture and 21 controls BMD at FN, Ward’s triangle, and trochanteric NS 155
rs2234693 (PvuII)–rs9340799 (XbaI) haplotype 691 postmenopausal Chinese women aged 45–65 yr Decreased BMD at whole body, LS, and hip <0.05 8
rs2234693 (PvuII)- IL-6 rs2010963 (634C/G) interaction 228 premenarche Chinese girls aged 9–11.5 yr BMD at total left hip and femoral intertrochanter 0.009, 0.007 9
rs1801132, rs726282 2,693 European men aged 40–79 yr Ultrasound BMD 0.002, 0.019 143
rs3020314, rs1884051 350 Chinese with osteoporotic hip fractures and 350 Chinese controls Hip fracture 0.0004, 0.0004 14
(Continued)
Gene
 Marker locus
 Population characteristics
 Phenotype
 P value
 Ref.
rs1801132 6,752 Caucasian women recruited at four U.S. clinical centers and enrolled into the Study of Osteoporotic Fractures Vertebral fracture <0.05 12
(TA)19 repeat 92 unrelated healthy males aged 21–35 yr BMD at LS, trochanter 0.006, 0.02 11
(TA)21 repeat BMD at LS, trochanter, and total hip 0.04, 0.02, 0.03
rs2234693, rs1884052, rs3778099 425 Chinese adults BMD NS 71
ER-β CA repeat 400 Chinese women including 78 FN PMO cases and 122 controls Postmenopausal osteoporosis 0.001 167
108 LS PMO cases and 92 controls 0.023
rs1256063, rs1256049, rs1256031 2,693 European men aged 40–79 yr Ultrasound BMD NS 143
rs960070 350 Chinese with osteoporotic hip fractures and 350 Chinese controls Hip fracture 0.0070 14
ESRRA 23 bp repeat polymorphism in promoter 673 premenopausal women from the Toronto metropolitan area BMD at LS NS 168
FABP3 rs10914367 360 postmenopausal Hungarian women BMD at total hip 0.028 137
FGFR1 rs6996321 360 postmenopausal Hungarian women BMD at LS 0.002 137
FGFR2 rs7916940 862 Caucasian men aged ≥65 yr BMD at FN <0.05 141
FLNB rs7637505, rs9822918, rs2177153, rs2001972 1,085 UK female twins and 1,315 Australian women BMD at LS and FN <0.05 169
rs9828717 1,080 Chinese females BMD at LS <0.05 159
FLT1 rs1408245 862 Caucasian men aged ≥65 yr BMD at FN <0.05 141
FOXC2 rs3751797 862 Caucasian men aged ≥65 yr BMD at LS <0.05 141
FZD1 rs2232157, rs2232158 1,084 African men BMD at FN, bone size at the radius, strength-strain index <0.05 170
FZD6 rs3808553 (L345 M), rs12549394 (E664A) 371 postmenopausal Korean women BMD at LS and FN NS 171
GDF5 rs143383 2,487 European cases and 2,018 age-matched controls from the UK and Spain Osteoarthritis <0.05 172
rs143383 6,365 Caucasian elderly subjects Hip axis length and nonvertebral fractures 0.0004, 0.02 173
GHRH rs4988492 498 men and 468 women aged 59–71 yr from the Hertfordshire Cohort Study BMC and BMD at proximal femur and LS <0.05 174
GR rs1866388 400 Chinese women and 400 Chinese men Extreme age-adjusted BMD at hip 0.028 175
HMGA2 rs1042725 1,680 Afro-Caribbean men aged ≥40 yr and 1,548 Caucasian American men aged ≥69 yr Trabecular volumetric BMD 0.007 176
0.0007
HOXA rs6951180, rs6964896 862 Caucasian men aged ≥65 yr BMD at FN and LS <0.05 141
HSD11B1 6 SNPs 1,392 postmenopausal Korean women BMD at FN and vertebral fracture <0.05 177
IGFBP2 rs10932669 862 Caucasian men aged ≥65 yr BMD at LS <0.05 141
IL-6 rs603573 (−174G/C), CA repeat 640 Mexican natives including 70 osteoporotic women, 70 nonosteoporotic women, and 500 subjects from the Mexican population BMD at LS < 0.0001 178
rs603573 (−174G/C) 267 postmenopausal women of Wielkopolska region aged 58.5 ± 5.9 yr BMD at LS NS 179
rs603573 (−174G/C) 42 Turkish including 21 osteoporotic patients with proximal femur fracture and 21 controls BMD at FN, Ward’s triangle, and trochanteric NS 155
rs2010963 (−634C/G) 228 premenarche Chinese girls aged 9–11.5 yr Percentage accrual in BMD of total body and femoral trochanter 0.032, 0.048 9
rs2010963 (−634C/G) 176 premenarche Chinese girls aged 9–11.5 yr Increased BMD at total body and femoral trochanter 0.027, 0.028 150
rs2010963 (−634C/G) interaction with ER-α PvuII 228 premenarche Chinese girls aged 9–11.5 yr BMD at total left hip and femoral intertrochanter 0.009, 0.007 9
(Continued)
Gene
 Marker locus
 Population characteristics
 Phenotype
 P value
 Ref.
IL6R rs3887104, rs4845617, rs8192284 559 postmenopausal Spanish women BMD at FN BMD at LS 0.011, 0.025, 0.038 180
IL-15 rs2857261, rs10519613, rs56245420, rs1057972 1,921 postmenopausal Korean women BMD at LS and FN <0.05 181
IL-23R rs4655686, rs1569922, rs7539625 443 patients with osteonecrosis of the femoral head and 273 control subjects enrolled in Korea Osteonecrosis of the femoral head 0.0198–0.0447 182
ITGA1 8 SNPs 946 postmenopausal Korean women BMD at proximal femur and LS 0.009–0.05, 0.002–0.005 183
LEPR rs1137100 (Lys109Arg) 145 premenopausal and 118 postmenopausal Korean women BMD at total hip 0.044 184
LHB rs2013040 2,693 European men aged 40–79 yr Ultrasound BMD NS 143
LHCGR rs6545061 2,693 European men aged 40–79 yr Ultrasound BMD 0.023 143
LRP1 rs4759044 and rs4759044-rs11172113 haplotype 344 Australian women with extreme BMD, aged 55–80 and >5 yr postmenopausal BMD, BMC at total hip and FN area <0.05 18
LRP5 rs3781590 344 Australian women with extreme BMD, aged 55–80 and >5 yr postmenopausal BMD at total hip 0.0006 18
rs3736228 (Ala1330Val) 6,082 men from three cohorts (MrOS Sweden: n = 3,014, aged 69–81 yr; MrOs Hong Kong: n = 2,000, aged >65 yr; Swedish GOOD study: n = 1,068, aged 18–20 yr) BMD at LS and FN NS 21
rs3736228 (Ala1330Val) 739 postmenopausal Japanese women BMD at total body 0.0026 185
rs3736228 (Ala1330Val) Meta-analysis BMD at LS and FN 0.55, 0.05 186
rs3736228 (Ala1330Val) Meta-analysis BMD at LS, FN, and trochanter <0.001, <0.001, 0.053 187
rs4988321 (Val667Met) 3,800 men from two cohorts (MrOS Sweden: n = 3,014, aged 69–81 yr; Swedish GOOD study: n = 1,068, aged 18–20 yr) BMD at LS <0.05 21
rs4988321 (Val667Met) 673 premenopausal women from the Toronto metropolitan area BMD at LS 0.015 168
rs3736228 (Ala1330Val), rs4988321 (Val667Met) 589 physically active Caucasian men aged 20–30 yr BMD at LS and whole body BMD at FN <0.02, 0.04 188
rs3736228 (Ala1330Val), rs4988321 (Val667Met) 37,534 subjects from 18 participating teams in Europe and North America BMD at LS and FN, prevalence of all fractures and vertebral fractures <10−7 20
rs312009, rs2508836, rs729635, rs643892 964 postmenopausal Spanish women BMD at LS and FN, fracture <0.05 189
rs682429, rs686921 286 young southern Chinese females, aged 22–44 yr with low BMD BMD at LS and hip <0.05 190
rs4988330, rs4988331, rs312786 608 with OA (348 undergoing hip replacement surgery and 260 knee surgery) and 520 with hip fractures Osteoporosis and osteoarthritis 0.008–0.03 191
rs41494349 (266A>G) 800 healthy recently perimenopausal Danish women Parameters of hip geometry NS 192
rs545382, rs2277268 126 prepubertal children (64 with premature adrenarche and 62 controls) BMD at LS and FN <0.05 193
rs3736228 652 Slovenian subjects BMD at LS and FN NS 194
LRP6 rs2075241, rs11054704 344 Australian women with extreme BMD, aged 55–80 and >5 yr postmenopausal BMD and BMC at total hip <0.05 18
rs2302685 (Ile1062Val) 37,534 subjects from 18 participating teams in Europe and North America BMD at LS and FN, prevalence of all fractures and vertebral fractures NS 20
(Continued)
Gene
 Marker locus
 Population characteristics
 Phenotype
 P value
 Ref.
rs1181334 608 with OA (348 undergoing hip replacement surgery and 260 knee surgery) and 520 with hip fractures Osteoporosis and osteoarthritis <0.05 191
rs2302685 652 Slovenian subjects BMD at LS and FN NS 194
LTBP2 16 SNPs 1,459 subjects in 306 southern Chinese pedigrees, 706 and 760 case-control subject pairs with extremely high and low trochanter and total hip BMD BMD at total hip and fracture 0.0004, 0.01 195
MDR1 rs1045642 (C3435T) 127 Chinese systemic lupus erythematosus patients Development of osteonecrosis of femoral head observed by magnetic resonance imaging 0.038 196
rs2032582 (G2677T) 0.05
MMP2 5 SNPs 360 postmenopausal Hungarian women BMD at LS, total hip and distal radius, nonvertebral fracture NS 137
rs243865 (C595T) 6,752 Caucasian women recruited at four U.S. clinical centers and enrolled into the Study of Osteoporotic Fractures Vertebral fracture <0.05 12
MSTN 3 SNPs 1,260 Chinese from 401 nuclear families BMD at proximal femur and LS <0.05 197
MTHFR rs1801133 (677C>T) 3,196 children aged 9.9 yr from the Avon Longitudinal Study of Parents and Children BMD at LS <0.001 198
rs1801133 (677C>T) 1,243 Chinese subjects BMD at FN, hip, and trochanter 0.02–0.05 154
rs1801133 (677C>T) 800 healthy recently perimenopausal Danish women Parameters of hip geometry NS 192
NFATC1 rs177820 862 Caucasian men aged ≥65 yr BMD at LS <0.05 141
NOG 7 SNPs 2,060 Afro-Caribbean men age 40 and older BMD at the proximal femur and LS NS 199
NOS3 18 SNPs and haplotypes 1,451 subjects from Framingham Offspring Cohort Bone density/ultrasound and geometry NS 200
rs2070744 [T(−786)C] 167 Americans including 95 cases with femoral head necrosis and 72 controls Osteonecrosis of femoral head <0.05 201
rs2070744 [T(−786)C] 305 postmenopausal Turkish females BMD at femoral trochanter and LS 0.046, 0.005 202
NPY rs16135, rs16123 1,113 randomly selected men of African ancestry BMD at proximal femur <0.05 203
OCIL rs16914640 (Asn19Lys) 500 postmenopausal Spanish women BMD at LS and FN <0.05 204
OPG rs2073618 (Lys3Asn) 69 premenopausal and 263 postmenopausal Spanish women BMD at LS <0.05 205
rs2073618 (Lys3Asn) 6,695 Caucasian women aged 65 yr and older in the United States BMD at calcaneus and LS, FN fracture <0.05 16
rs237025 (A163G) 87 postmenopausal Caucasian women Calcaneal velocity of sound 0.0102 206
G209A, T245G 42 Turkish including 21 osteoporotic patients with proximal femur fracture and 21 controls BMD at FN, Ward’s triangle, and trochanter NS 155
rs2073618 (K3N) 239 osteoporotic and 228 nonosteoporotic postmenopausal, 57 premenopausal women, and 117 elderly men BMD at LS, FN, and total hip 0.021, 0.041, 0.032 5
rs1032129 964 postmenopausal Spanish women BMD at FN 0.001 207
PBX1 rs2800791, rs9661977 720 southern Chinese subjects from 231 families; another independent unrelated southern Chinese cohort with a total of 835 extremely high and extremely low BMD subjects; 1,268 case-control Japanese subjects with 703 osteoporotic subjects and 565 normal controls BMD at LS 0.004, 0.050 208
PIR rs5935970 4,000 Chinese subjects BMD at LS <0.05 209
PLOD rs7529452, rs2273291, rs7514577 1,243 Chinese subjects BMD <0.05 154
PPAR-γ rs1801282 239 Korean women with mean age 51 yr Serum OPG level 0.035 210
rs1801282-rs3856806 haplotype 0.010
(Continued)
Gene
 Marker locus
 Population characteristics
 Phenotype
 P value
 Ref.
rs12486170 (−796A>G), rs1801282 (+34C>G), rs3856806 (+82466C>T) 448 patients with osteonecrosis of the femoral head and 336 control subjects Osteonecrosis of the femoral head NS 211
P2X7 rs3751143 (Glu496Ala), rs1653624 (Ile568Asn) 800 healthy recently perimenopausal Danish women Parameters of hip geometry NS 192
PRL rs7739889 (T228C) 6,752 Caucasian women recruited at four U.S. clinical centers and enrolled into the Study of Osteoporotic Fractures Vertebral and hip fracture <0.05 12
PTH 3 haplotypes 1,044 women aged 75 yr from the Malmo Osteoporosis Prospective Risk Assessment study Fractures 0.038 212
PTHRLH rs805512, rs10492364, rs1268693 1,044 women aged 75 yr from the Malmo Osteoporosis Prospective Risk Assessment study BMD at LS and FN, fracture NS 212
VNTR 234 young Finnish males BMD, BUA, and SOS at LS <0.0034 213
PTHR1 rs6442037, rs724449, rs7652849 1,044 women aged 75 yr from the Malmo Osteoporosis Prospective Risk Assessment study BMD at LS and FN, fracture NS 212
rs724448-rs2242116 haplotype 1,080 Chinese females BMD at LS and FN 0.02, 0.044 159
PTHR2 rs9288393, rs10497900, rs897083 1,044 women aged 75 yr from the Malmo Osteoporosis Prospective Risk Assessment study BMD at LS and FN, fracture NS 212
PTN rs322297 862 Caucasian men aged ≥65 yr BMD at FN <0.05 141
RANK +35966insdelC 467 postmenopausal Slovenian women BMD at LS, FN, and hip 0.020, 0.034, 0.024 214
RANKL −290C>T, −643C>T, −693G>C 404 postmenopausal Slovenian women aged 42–91 yr BMD at LS 0.001, 0.041, 0.013 17
CCG, TTC haplotypes 0.005, 0.007
−290C>T, 239 osteoporotic and 228 nonosteoporotic postmenopausal, 57 premenopausal women, and 117 elderly men BMD at LS 0.017 5
−290C>T-K3N combination BMD at FN and total hip 0.029, 0.041
rs12585014, rs7988338, rs2148073 1,873 Caucasians from 405 nuclear families CSI at FN 0.0007, 0.0007, 0.0005 130
RIZ1 Pro704 ins/del 2,424 men and 3,517 women from the Rotterdam study BMD at LS and FN, fracture NS 215
ROR2 19 SNPs 705 Caucasians from 212 nuclear families Bone length and BMD for hand bones, proximal phalanges and metacarpal bones <0.05 216
Runx2 4 SNPs and haplotypes 743 Caucasians from 212 nuclear families Hand bone length and BMD <0.05 217
rs7771980 729 postmenopausal Korean women BMD at LS, trochanter and total femur 0.02, 0.05, 0.04 218
SFRP1 rs921142, rs4736965, and their haplotype 344 Australian women with extreme BMD, aged 55–80 and >5 yr postmenopausal BMD and BMC at total hip <0.005 18
rs16890444, rs3242 931 Japanese women BMD at LS, FN, and hip 0.037, 0.025, 0.027 219
SFRP2 4 SNPs 344 Australian women with extreme BMD, aged 55–80 and >5 yr postmenopausal BMD, BMC at total hip and FN NS 18
SHBG rs1799941, rs6259, TAAAA repeat in promoter 2,693 European men aged 40–79 yr Ultrasound BMD NS 143
rs1799941, rs6259 213 healthy postmenopausal Caucasian women BMD at the proximal femur sites <0.05 220
(Continued)
Gene
 Marker locus
 Population characteristics
 Phenotype
 P value
 Ref.
Smad6 rs755451 721 postmenopausal Japanese women BMD at total body and LS 0.0004, 0.005 221
SOST rs851054, rs851056 344 Australian women with extreme BMD, aged 55–80 and >5 yr postmenopausal BMD and BMC at total hip 0.004–0.008 18
rs1230399 1,243 Chinese subjects with low BMD and high BMD BMD at LS, FN, trochanter and, total hip, osteoporosis 0.004–0.03 0.005 222
rs1534401, rs1877632 862 Caucasian men aged ≥65 yr BMD at LS <0.05 141
rs851054, rs851056
rs10534024 652 Slovenian subjects BMD at LS and FN NS 194
SPARC 1046C-1599C-1970T, 1046C-1599G-1970T haplotypes 115 middle-aged Caucasian men with idiopathic, low turnover osteoporosis (n = 56) and matched controls (n = 59) BMD at LS, hip, and radius <0.05 223
SRD5A2 rs632148, rs523349, rs765138, rs7571644, TA repeat in exon 5 2,693 European men aged 40–79 yr Ultrasound BMD NS 143
SREBF1 rs12601420 (IVS6-48 C>T), rs9925115 (IVS7+117A>G) 423 patients with osteonecrosis of the femoral head and 348 controls Osteonecrosis of the femoral head <0.0001 224
TGFB1 rs1800469 (1348 C>T), rs1800472 (788 C>T) 28,924 subjects from 10 European research studies BMD at LS, vertebral fracture <0.05 225
THSD4 rs10851839 Japanese women with osteoporosis aged 72.7 ± 7.3 yr BMD at LS and FN 0.0092, 0.0046 226
THSD7A rs12673692 337 Japanese women with osteoporosis aged 72.7 ± 7.3 yr BMD at LS and FN 0.00017, 0.036 226
TIMP2 7 SNPs 360 postmenopausal Hungarian women Nonvertebral fracture 0.0187 137
TNF-α rs1800629 (−308G/A) 267 postmenopausal women of Wielkopolska region aged 58.5 ± 5.9 yr BMD at LS NS 179
rs1800629 (−308 G/A) 159 Portuguese BMD at LS and hip NS 227
rs1799964 (−1031 T>C) 377 postmenopausal Korean women Osteoporosis <0.05 228
TNF-β rs909253 (A252G) 377 postmenopausal Korean women Osteoporosis <0.05 228
TNFRII rs1061622 (T676G), rs3397 (1690T>C), A1663G 377 postmenopausal Korean women Osteoporosis, bone turnover markers <0.05 228
TNFRSF1B rs976881 1,243 Chinese subjects BMD 0.04–0.08 154
TSHR rs1991517 (Asp727Glu) 4,934 elderly Caucasian men and women of the Rotterdam Study BMD at FN <0.05 229
TWIST1 BD0027 (+1871A>G) 729 postmenopausal Korean women Osteoporosis, BMD at FN 0.02, 0.039 230
VEGF rs2010963 (−634G>C) 814 Korean including 317 osteonecrosis of the femoral head cases and 497 controls Osteonecrosis of the femoral head cases 0.015 231
rs2010963 (−634 G>C), rs3025039 (+936 C>T) 252 postmenopausal Caucasian women aged 46–80 yr BMD at LS 0.017 232
0.05
VDR rs11568820 (Cdx-2) 190 postmenopausal Brazilian women BMD at LS, FN, great trochanter, and Ward’s triangle with different physical activity level <0.05 6
rs10735810 (Fokl) 192 postmenopausal active women BMD at FN and Ward’s triangle <0.05 233
rs1544410, rs7975232, rs731236 (Bsml, ApaI, TaqI) 246 postmenopausal Turkey women including 100 osteoporosis and 146 controls Osteoporosis NS 234
rs1544410, rs7975232, rs731236 (Bsml, ApaI, TaqI) 47 Caucasian patients with ulcerative colitis and 47 control subjects matched for age and gender BMD at LS <0.05 235
rs1544410, rs7975232, rs731236 (haplotype BBAAtt) 147 postmenopausic Venezuelan women including 71 cases with osteoporosis and 76 controls Osteoporosis <0.05 236
(Continued)
Gene
 Marker locus
 Population characteristics
 Phenotype
 P value
 Ref.
rs1544410, rs7975232, rs731236, rs10735810 (BsmI, ApaI, TaqI, FokI) 238 Polish women including 75 premenopausal cases with Graves’ disease and 163 controls BMD at LS and FN NS 237
rs1544410, rs7975232, rs731236, rs10735810 (BsmI, ApaI, TaqI, FokI) 126 Chilean elderly women aged 65–94 yr including 67 hip fractures and 59 controls Hip fracture NS 238
rs1544410 (BsmI) 301 healthy young Caucasian men aged 18–25 yr BMD, BMC and geometrical areas at specific skeletal sites of the forearm NS 161
rs1544410 (BsmI) 335 Korean women older than 65 yr with low calcium intake BUA of calcaneus 0.013 239
rs1544410 (BsmI) 42 Turkish including 21 osteoporotic patients with proximal femur fracture and 21 controls BMD at FN, Ward’s triangle, and trochanteric NS 155
rs1544410 (BsmI) 68 healthy, 54 osteopenic, and 64 osteoporotic Argentine postmenopausal women BMD at LS and FN <0.05 240
rs1544410 (BsmI) interaction with ER-α PvuII and XbaI 68 healthy, 54 osteopenic, and 64 osteoporotic Argentine postmenopausal women BMD at FN <0.05 240
rs7975232, rs731236 (ApaI, TaqI ) 40 Lactating Brazilian adolescents aged 15–18 yr BMD at LS and BMC at total body <0.05 241
BsmI, FokI, Cdx2 and combination of K3N(OPG)-Cdx2 239 osteoporotic and 228 nonosteoporotic postmenopausal, 57 premenopausal women, and 117 elderly men BMD at FN, LS, and total hip <0.05 5
rs7975232 (ApaI) 136 postmenopausal women BMD at LS and hip <0.05 242
WISP3 4 SNPs 344 Australian women with extreme BMD, aged 55–80 and >5 yr postmenopausal BMD, BMC at total hip and FN area NS 18
WNT3a rs708114, rs4653533, rs752107 344 Australian women with extreme BMD, aged 55–80 and >5 yr postmenopausal BMD at total hip <0.05 18
WNT7b 8 SNPs 344 Australian women with extreme BMD, aged 55–80 and >5 yr postmenopausal BMD at total hip <0.05 18
WNT10b rs1051886, rs3741627 1,035 Afro-Caribbean men aged ≥40 yr and 980 Afro-Caribbean men Cross-sectional area, periosteal circumference, BMD at hip and BMC at the radius and cortical <0.05 243
7 SNPs 1,438 Caucasian postmenopausal women BMD at LS and hip NS 244

Adapted from Y. Guo et al.: Expert Rev Endocrinol Metab 3:223–267, 2008 (3), with permission from Expert Reviews Ltd. ALL, Acute lymphoblastic leukemia; BMC, bone mineral content; BUA, broadband ultrasound attenuation; CSI, compression strength index; FNW, FN width; GOOD study, Gothenburg Osteoporosis and Obesity Determinants study; NS, not significant; PMO, postmenopausal osteoporosis; QUS, quantitative ultrasound; SOS, speed of sound; VNTR, variable number tandem repeat.