Table 1 Genome-wide association studies conducted on osteoporosis and related traits

From: Twelve years of GWAS discoveries for osteoporosis and related traits: advances, challenges and applications

Studies

Traits

Discovery sample number and ancestry

Replication sample number and ancestry

Design

Population

Measurement

Kiel DP (2007)26

BMD (spine, femoral neck), hip geometry

1 117 European

–

GWAS

Adult

DXA

Richards JB (2008)16

BMD (spine, femoral neck), osteoporosis, osteoporotic fractures

2 094 European women

6 463 European

GWAS

91.8% women

DXA

Styrkarsdottir U (2008)27

BMD (spine, total hip or femoral neck),

low-trauma fractures

5 861 European

7 925 European

GWAS

Elderly adults

DXA

Liu YZ (2008)51

Bone size (hip), low-trauma hip fractures

1 000 European

1 216 European;

Chinese (266 cases, 177 controls)

GWAS

Adult

DXA

Styrkarsdottir U (2009)144

BMD (spine, hip), low-trauma fractures

6 865 European

8 510 European

GWAS

Adult

DXA

Xiong DH (2009)145

BMD (spine, total hip, femoral neck)

1 000 European

4 925 European, 3 655 Chinese, 908 African

GWAS

Adult

DXA

Timpson NJ (2009)44

BMD (femoral neck, total body minus the head)

1 518 European

4 312 European

GWAS

Children

DXA

Liu YZ (2009)146

BMD (spine, femoral neck)

1 000 European

3 355 European

GWAS

Adult

DXA

Rivadeneira F (2009)17

BMD (spine, femoral neck)

19 195 European

–

GWAS-meta

Adult

DXA

Guo Y (2010)29

Osteoporotic fractures (hip)

Asian Chinese

(350 cases and 350 controls)

Asian Chinese (390 cases and 516 controls)

BMD (9 962 European and Chinese)

GWAS

Elderly adults

DXA

Kung AW (2010)18

BMD (spine, femoral neck),

osteoporotic fractures

785 Asian Chinese

13 913 European,1 584 Asian Chinese

GWAS

Adult

DXA

Koller DL (2010)46

BMD (spine, femoral neck)

1 524 European

669 European

GWAS

Premenopausal women

DXA

Guo Y (2010)147

BMD (femoral neck)

983 European

2 557 European

GWAS

Adult

DXA

Hsu YH (2010)148

BMD (spine, femoral neck),

geometric indices of the hip

3 569 European

7 633 European women

GWAS-meta

Elderly adults

DXA

Tan L (2010)149

BMD (forearm)

1 000 European

1 628 East Asian

GWAS

Adult

DXA

Paternoster L (2010)22

Cortical BMD

1 934 European

3 835 European

GWAS-Meta

Adolescent, adult

pQCT

Kou I (2011)30

Osteoporosis

Japanese (713 cases and 3 094 controls)

Japanese (1 566 cases and 1 577 controls)

GWAS

Elderly adults

DXA

Duncan EL (2011)150

BMD (spine, total hip, femoral neck)

1 955 European

20 898 European

GWAS

Postmenopausal women

DXA

Lei SF (2012)52

Bone size (spine)

1 627 Chinses

1 728 European

GWAS

Adult

DXA

Estrada K (2012)19

BMD (spine, femoral neck),

low-trauma fractures

32 961 European, East Asian

50 933 European

GWAS-meta

Elderly adults

DXA

Zheng HF (2012)48

BMD (forearm), cortical thickness,

forearm fracture

5 672 European;

Fracture: 2 023 cases, 3 740 controls, European

GWAS-Meta

Adult

DXA

Medina-Gomez, C (2012)45

BMD (total body minus the head)

2 600 European

11 052 European

GWAS

Children, adult

DXA

Liu CT (2012)49

BMD (spine, femoral neck)

25 353 European

24 763 European, East Asian and others

GWAS-Meta

Adult

DXA

Guo YF (2013)53

Bone size (hip)

1 627 Chinese

2 286 European

GWAS

Adult

DXA

Koller DL (2013)47

BMD (spine, femoral neck)

4 061 European, Asian

4 744 European, Asian

GWAS-meta

Premenopausal women

DXA

Deng FY (2013)151

Bone size (spine)

2 286 European

3 503 European; 1 627 Chinses

GWAS

Adult

DXA

Hwang JY (2013)32

Any low-trauma osteoporotic fractures

Korean (288 cases and 1 139 controls)

Asian (831 cases and 2 305 controls)

GWAS-meta

Elderly adults

Radiographs

Zheng HF (2013)152

BMD (forearm), forearm fracture

5 866 European, 715 Mexican American; forearm fracture: 2 023 cases and 3 740 controls

GWAS-Meta

Adult

DXA

Oei L (2014)153

Osteoporotic vertebral fractures

329 cases and 2 666 controls, European

26 217 European, 1 294 East Asian

GWAS

Elderly adults

Radiographs

Zhang L (2014)35

BMD (spine, total hip, femoral neck)

8 472 European, 1 547 East Asian, 1 124 others

10 732 European, 5 139 East Asian

GWAS-meta

Adult

DXA

Kemp JP (2014)154

BMD (forearm, lower limb, skull, total body minus the head)

8 007 European, 1 409 others

–

GWAS-Meta

Children

DXA

Chesi A (2015)43

BMD (forearm), BMC (forearm)

908 European; 163 others

481 European

GWAS

Children

DXA

Zheng HF (2015)14

BMD (spine, femoral neck, forearm),

fractures#

BMD (total = 53 236)

Fracture (total = 508 253)

–

WGS, GWAS-meta

Adults

DXA

Tan LJ (2015)155

BMD (spine, total hip)

826 Chinese

1 728 European;709 African American or Afro-Caribbean;408 Hispanic or Latin American

GWAS

Adult

DXA

Styrkarsdottir U (2016)156

BMD (spine, total hip or whole body), osteoporosis, osteoporotic fractures

European (2 894 cases, 206 485 controls)

–

WGS

Adult

DXA

Styrkarsdottir U (2016)157

BMD (spine, hip), osteoporotic fractures

BMD (20 100 Icelanders, 10 091 European and East Asian)

osteoporotic fractures (10 389 cases and 264 522 controls)

GWAS

Adult

DXA

Mullin BH (2016)158

BMD (spine, total hip, femoral neck)

1 042 European

5 654 European

GWAS

Adult

DXA

Hwang JY (2016)33

SOS

1 895 Asian Korean

7 263 Asian Korean

GWAS-Meta

Adult

Ultrasound

Taylor KC (2016)159

Fractures#

10 305 African American or Afro-Caribbean

–

GWAS-meta

Only women

DXA, radiographs, self-report

Choi HJ (2016)160

BMD (spine, total hip, femoral neck)

2 729 Korean

1 547 Chinese; 3 237 European

GWAS

Adult

DXA

Pei YF (2016)161

BMD (hip Ward’s triangle)

4 305 European; 1 579 Asian; 1 295 others

 

GWAS-Meta

Adult

DXA

Pei YF (2016)162

BMD (hip trochanter and intertrochanter)

6 912 European

971 European, 1 291 others

GWAS

Adult

DXA

Chesi A (2017)50

BMD (spine, total hip, femoral neck, forearm)

933 European American

486 European American

GWAS

Children

DXA

Mullin BH (2017)163

SOS, BUA

1 268 European

1 610 and 13 749 European

GWAS-Meta

Adult

QUS

Villalobos-Comparán M (2017)164

BMD (spine, femoral neck)

Bone geometry (femoral neck)

411 Hispanic or Latin American

420 Hispanic or Latin American

GWAS

Postmenopausal women

DXA

Kemp JP (2017)38

BMD (heel)

142 487 European

–

GWAS

Adult

QUS

Peng C (2017)165

BMD (spine, femoral neck)

53 236 NR; 5 152 East Asian

–

GWAS-meta

Adult

DXA

Lu S (2017)166

BMD (spine, hip and total body)

2 069 European

–

GWAS

Adult

DXA

Alonso N (2018)167

Osteoporotic vertebral fractures

European (1 553 cases, 4 340 controls)

European (1 028 cases, 3 762 controls)

GWAS

Only women

DXA

Inaba H (2018)168

BMD (spine)

235 European; 48 African American or Afro-Caribbean; 13 NR

GWAS

Children

QCT

Pei YF (2018)169

BMD (spine, femoral neck)

37 657 European; 1 539 East Asian; 1 295 others

–

GWAS-meta

Adult

DXA

Lin X(2018)170

BMD (femoral neck)

49 988 European

–

GWAS

Adult

DXA

Kim SK (2018)171

BMD (heel), osteoporosis and fracture

394 929 European; osteoporosis: 455 cases, 28 819 controls

Fracture: 59 378 cases, 348 296 controls

GWAS

Adult

QUS

Qiu C (2018)172

BMD (spine)

1 547 Asian, 3 237 Caucasian,

712 African, 409 Hispanic

–

GWAS meta

Adult

DXA

Trajanoska K (2018)36

Fractures#

37 857 cases, 227 116 controls,

European or East Asian

147 200 cases, 150 085 controls, European

GWAS-meta

Adult

Diagnosis, self-report

Gregson CL (2018)173

BMD (spine, total hip)

1 380 European

30 970 NR

GWAS

Adult

DXA

Naito T (2018)31

BMD (spine, femoral neck)

Japanese (173 cases, 81 controls)

–

GWAS

Adult

DXA

Liang X (2018)174

BMD (spine, hip, femoral neck, forearm, total body)

2 286 European; 3 404 Framingham Heart Study (FHS) subjects

GWAS

Adult, children

DXA

Morris JA (2019)39

BMD (heel), fracture#

426 824 individuals

–

GWAS-Meta

Adult

QUS, diagnosis, self-report

Hsu YH (2019)175

Hip geometry

18 719, mostly European

Mostly European (N > 9 000)

GWAS-Meta

Adult

DXA

Baird DA (2019)54

Hip shape

10 217 European, 5 717 NR

–

GWAS-Meta

Adult

DXA

Styrkarsdottir U (2019)56

Bone size (spine, hip, femoral neck, trochanter, intertrochanteric region)

European (N ≥ 28 954)

European and East Asian

(N = 13 608–21 277)

GWAS

Adult

DXA

Zhang H (2020)55

BMD (hip)

Bone size (hip)

3 267 European; 1 619 East Asian; 843 African American or Afro-Caribbean;

446 Hispanic or Latin American

GWAS

Adult

DXA

  1. BMD bone mineral density, BMC bone mineral content, BUA broadband ultrasound attenuation, DXA dual-energy X-ray absorptiometry, GWAS genome-wide association study, NA not available, QCT quantitative computed tomography, pQCT peripheral QCT, QUS quantitative ultrasound, SOS speed of sound, WGS whole-genome sequencing; # fracture occurring at any site, except fingers, toes and skull, after age 18
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