Supplemental Material Supplementary references




старонка3/5
Дата канвертавання25.04.2016
Памер1.29 Mb.
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18159244

Obesity

CRHR1

rs17763104

0.044

0.17

+




17658951

Hip circumference

CRP†

rs876538

0.0366

0.22

(+)

BMI, Weight

18439548

CRP levels

CRP†

rs3091244

6.16E-28

0.05

+

Systemic biomarkers

17903292

CysC levels

CST3†

rs1158167

8.00E-09

0.21

+




17903297

Occipital Brain Volume (MRI)

CST3†

rs1158167

6.50E-04

0.21

(+)




17554300

Rheumatoid arthritis

CTLA4†

rs11571300

5.16E-03

0.12

+




17554300

Type 1 diabetes

CTLA4†

rs3087243

1.80E-05

0.46

+




17505501

Hepatic adverse events during ximelagatran treatment

CUTL2

rs2157876

1.90E-04

0.08

-




17641165

HIV viral load

CX3CR1

rs1513253

2.12E-02

0.07

+




17641165

HIV viral load

CXCL12

rs12266297

1.19E-02

0.12

+




18445777

Hip bone mineral density

CYP17

rs7904252

7.10E-03

0.31

+




17903296

Neck-shaft angle

CYP19

rs10519297

2.00E-03

0.44

+




18445777

Hip bone mineral density

CYP1B1

rs232581

2.60E-03

0.24

+




18535201

Warfarin maintenance dose

CYP2C18-CYP2C19-CYP2C8-CYP2C9

rs7896133

3.60E-05

0.07

+




18535201

Warfarin maintenance dose

CYP2C9†

rs4917639

9.70E-05

0.21

+




18650507

Statin-induced myopathy

CYP2C9†

rs1057910

2.00E-02

0.06

+




17554300

Bipolar disorder

DAOA

rs1981272

2.71E-02

0.48

+




18445777

Spine bone mineral density

DBP

rs3826838

0.015

0.16

+




17903297

Total Cerebral Brain Volume (MRI)

DCDC2

rs10484657

6.00E-04

0.01

(+)




18282107

Schizophrenia

DGCR2

NA

1.00E-04

NA

+




17447842

Crohn disease

DLG5

NA

1.00E-04

NA

+




17554300

Bipolar disorder

DTNBP1

rs742206

1.48E-03

0.08

+




17293876

Type 2 diabetes

ENPP1

rs7769712

3.10E-02

0.05

+




17903307

Percent predicted FEF25–75/FVC for latest exam

EPHX1†

rs3738051

4.00E-02

0.03

+




18535201

Warfarin maintenance dose

EPHX1†

rs360097

1.40E-03

0.35

+




17903305

Breast cancer

ERBB4

rs905883

2.00E-04

0.11

+




17903295

Walking speed

ESR1†

rs9322361

8.90E-03

0.17

-

Alzheimer's disease

17903303

Coronary artery calcification

ESR1†

rs3866461

3.40E-03

0.13

+

Ankle brachial index, Internal carotid artery IMT, Abdominal aortic calcification

18159244

Obesity

ESR1†

rs712221

0.0014

0.39

+

BMI, Waist circumference

18445777

Spine bone mineral density

ESR1†

rs2504063

5.68E-08

0.39

+

Hip BMD, Shaft Section modulus

18445777

Hip bone mineral density

ESR2

rs10498514

1.10E-02

0.03

+




18535201

Warfarin maintenance dose

F2

rs13448

4.80E-02

0.24

-




18535201

Warfarin maintenance dose

F5

rs10919202

2.60E-03

0.16

-




17903294

Factor VII levels

F7

rs561241

4.50E-16

0.12

+




18535201

Warfarin maintenance dose

F9

rs17002122

1.70E-02

0.09

+




17658951

Hip circumference

FABP2

rs6841872

0.0142

0.28

+

BMI, Weight, Obesity

17903295

Walking speed

FASLG

rs6700734

2.90E-02

0.33

(+)




18391951

Human height

FBN1

rs8043050

1.90E-02

0.04

+




18204446

Systemic lupus erythematosus

FCGR2A

rs1801274

6.78E-07

0.49

+




18159244

Obesity

FOXC2

rs3829536

2.90E-03

0.33

+

Hip circumference

17903295

Age at death

FOXO1a

rs10507486

1.30E-04

0.24

+




17658951

Hip circumference

GAD2

rs3781108

0.0035

0.17

+

BMI, Weight

17903295

Age at death

GAPDH

rs4764600

5.00E-03

0.27

-




17903297

Wide-Range Achievement Test

GATA4

rs7006733

3.40E-02

0.44

-




17903307

Percent predicted FEF25–75/FVC for latest exam

GC

rs842873

2.00E-02

0.47

+




18521090

Response to iloperidone treatment

GFRA2

rs7837682

2.10E-04

0.16

-




18535201

Warfarin maintenance dose

GGCX

rs6643

2.40E-02

0.04

+




18445777

Hip bone mineral density

GH1

rs2665833

1.70E-03

0.39

+




17903304

Major coronary heart disease

GJA4

rs618675

4.00E-03

0.16

(+)

Major CVD

18445777

Spine bone mineral density

GnRH

rs12549314

5.40E-04

0.20

+

Hip BMD

17658951

Hip circumference

GPR40

rs12975589

0.0087

0.44

(+)

BMI, Weight

18521090

Response to iloperidone treatment

GRIA4

rs2513265

1.70E-04

0.49

(+)




17903307

Mean FVC from two exams

GSTO2

rs156697

9.80E-06

0.39

-




17903307

Percent predicted FVC for latest exam

GSTP1

rs688878

2.00E-02

0.07

+




17658951

Body mass index

H6PD

rs10489436

0.0468

0.11

(+)




17767159

HbF levels

HBS1L-c-MYB intergenic region

rs9399137

2.80E-27

0.20

+




18445777

Hip bone mineral density

HDC

rs4390539

3.90E-04

0.24

-




17632545

Type 1 diabetes

HLA region

rs2647044

5.18E-142

0.07

+




17505501

Hepatic adverse events during ximelagatran treatment

HLA region

rs2858869

6.00E-06

0.08

+




17558408

Celiac disease

HLA region

rs2187668

1.00E-19

0.08

+




17641165

HIV viral load

HLA region

rs2395029

9.36E-12

0.06

+




17660530

Multiple sclerosis

HLA region

rs3135388

8.94E-81

0.19

+




17804836

Rheumatoid arthritis

HLA region

rs2395175

8.00E-108

0.24

+




18204446

Systemic lupus erythematosus

HLA region

rs3131379

1.7E-52*

0.08

+




18364390

Psoriasis

HLA region

rs3134792

1.00E-09

0.10

+




18369459

Psoriatic arthritis

HLA region

rs10484554

5.79E-07

0.13

+




18445777

Spine bone mineral density

HLA region

rs1264695

4.37E-03

0.22

+




18723019

Sarcoidosis

HLA region

rs9257453

1.90E-03

0.11

+




18193044

LDL-C levels

HMGCR

rs12654264

4.00E-04

0.40

+




17903297

Temporal Brain volume (MRI)

HMGE

rs4689584

3.50E-02

0.04

-




17903307

Mean FEV1/FVC from two exams

HMOX1

rs10483190

8.00E-03

0.09

+




17293876

Type 2 diabetes

HNF4a

rs2425637

2.90E-03

0.49

+




17658951

Hip circumference

HSD11B1

rs11580294

0.0304

0.24

+

BMI

17903295

Biologic Age by Osseographic Scoring System

HSPA9

rs256014

5.00E-03

0.48

-




18604267

Soluble ICAM-1 levels

ICAM1

rs1799969

2.10E-28

0.10

+




17903297

Lateral Ventricular Volume (MRI)

IGF1†

rs1980236

4.60E-02

0.49

-




18445777

Spine bone mineral density

IGF1†

rs35760

4.47E-03

0.18

+




18445777

Hip bone mineral density

IGF2

rs4341514

8.50E-03

0.44

-




17641165

HIV viral load

IL10†

rs4072227

2.69E-03

0.07

+




17903307

Longitudinal slope of FEV1

IL10†

rs10494879

2.00E-02

0.46

+




18615156

delDAS28 (response to therapy)

IL10†

rs1800896

1.32E-02

0.47

+




17554300

Type 1 diabetes

IL2RA

rs2104286

4.32E-05

0.25

+




17903303

Ankle brachial index

IL6†

rs10240716

1.00E-02

0.36

+

Coronary artery calcification

18159244

Obesity

IL6†

rs1476483

4.38E-02

0.20

+




18445777

Hip bone mineral density

IL6†

rs12055945

1.20E-02

0.21

+




18159244

Obesity

IL6R†

rs6696089

1.81E-02

0.31

+




18464913

sIL-6R levels

IL6R†

rs4129267

1.82E-57

0.35

+




17632545

Type 1 diabetes

INS

rs1004446

4.38E-09

0.39

+




18445777

Spine bone mineral density

IRAK1

rs4898457

3.80E-04

0.31

+

Hip BMD

18677312

Systemic lupus erythematosus

IRF5

rs12531711

4.03E-12

0.12

+




18159244

Obesity

IRS1

rs1922531

1.74E-02

0.44

+




17463249

Type 2 diabetes

KCNJ11

rs5215

1.30E-03

0.40

+




16648850

QT interval

KCNK1

rs2282428

1.00E-04

0.35

+




18445777

Spine bone mineral density

KIT

rs1157106

9.49E-03

0.45

+




17903295

Walking speed

LASS6

rs6433083

6.00E-03

0.18

-




18159244

Obesity

LDLR†

rs1799898

2.80E-03

0.13

+




18193044

LDL-C levels

LDLR†

rs6511720

9.00E-07

0.11

+




18159244

Obesity

LEP

rs12706832

4.00E-02

0.43

+




17903295

Morbidity-free survival at age 65

LEPR†

rs3790426

2.00E-03

0.25

-




18159244

Obesity

LEPR†

rs2025805

1.17E-02

0.47

+

BMI, Hip circumference, Weight

18445777

Hip bone mineral density

LEPR†

rs11208756

7.90E-03

0.12

+




18159244

Obesity

LIPC†

rs9920144

1.95E-02

0.31

+

BMI, Weight

18193044

HDL-C levels

LIPC†

rs1800588

3.00E-05

0.26

+




18193044

HDL-C levels

LIPG-ACAA2 intergenic region

rs2156552

2.00E-02

0.19

+




17634449

Coronary artery disease

LPA

rs9346818

4.00E-02

0.41

+




17634449

Coronary artery disease

LPL†

rs17411031

4.00E-03

0.27

+




17658951

Hip circumference

LPL†

rs17410783

0.0059

0.18

+

Weight, Obesity, BMI

18179892

Triglyceride levels

LPL†

rs17482753

1.17E-09

0.11

+

HDL-C levels

18455228

Bone mineral density

LRP5

rs3736228

1.90E-05

0.14

+

Shaft Section modulus, Spine BMD

17903297

Factor 1:Verbal Memory

LRRK2

rs7975693

8.10E-05

0.12

(+)

WRAT, AFBV, ATBV

17903297

Similarities

LTA4H†

rs10492226

6.70E-04

0.03

(+)




17903304

Major coronary heart disease

LTA4H†

rs10492225

1.30E-02

0.15

+




17903297

Parietal Brain Volume (MRI)

LTB4R2

rs724165

4.50E-04

0.38

-




17999355

Skin pigmentation

MATP/SLC45A2

rs16891982

3.21E-11

0.02

+

Black to red hair, Black to blonde hair

18483556

Red vs non-red hair

MC1R

rs258322

5.00E-27

0.14

+

Black to red hair

18159244

Obesity

MC3R

rs1326022

2.70E-03

0.28

+




17658951

Hip circumference

MCHR1

rs5758108

0.0114

0.07

(+)




17903304

Major cardiovascular disease

MEF2A

rs2033546

4.00E-03

0.24

(+)

Major CHD

18445777

Hip bone mineral density

MGP

rs2160532

3.90E-03

0.42

+




18445777

Hip bone mineral density

MITF

rs9837111

3.40E-03

0.08

+




17903307

Percent predicted FEF25–75 for latest exam

MMP1†

rs495366

3.00E-02

0.26

+




18445777

Spine bone mineral density

MMP1†

rs2276108

1.63E-03

0.13

(+)




17903304

Major cardiovascular disease

MMP3

rs2096767

2.80E-02

0.34

(+)

Major CHD

17903295

Morbidity-free survival at age 65

MORF4L1

rs1383636

7.00E-03

0.28

-




17903305

Prostate cancer

MSR1

rs9325782

8.20E-04

0.01

+




17903296

Femoral shaft section modulus

MTHFR

rs1801133

3.30E-02

0.31

+




18445777

Spine bone mineral density

NCOA3

rs6066502

0.012

0.13

+




17903297

Hippocampal volume (MRI)

NGFB

rs10489531

9.70E-04

0.35

(+)




17903303

Abdominal aortic calcification

NOS3

rs768403

2.00E-03

0.40

+

Stage 2 Exercise heart rate, Baseline BA diameter, BA hyperemic flow velocity

18521090

Response to iloperidone treatment

NPAS3

rs11851892

8.60E-05

0.13

(+)




18159244

Obesity

NPY†

rs6461787

1.42E-02

0.33

+




18445777

Spine bone mineral density

NPY†

rs115063

0.013

0.39

+




18535201

Warfarin maintenance dose

NR1I2

rs2137619

1.80E-02

0.36

+




18445777

Hip bone mineral density

NR3C1

rs258799

1.90E-04

0.40

(+)

Spine BMD

17903302

Diastolic blood pressure

NR3C2

rs6845733

8.00E-03

0.38

+

Arterial stiffness, Systolic BP

17903297

White Matter Hyperintensity Volume (MRI)

NRG1

rs10503926

8.70E-05

0.45

+

AFBV, VMV, Bipolar disorder

17903297

Factor 1:Verbal Memory

NTRK2†

rs10512152

7.60E-05

0.02

(+)




18159244

Obesity

NTRK2†

rs10780688

1.47E-02

0.48

(+)

BMI, Hip circumference, Weight

17903297

Lateral Ventricular Volume (MRI)

NTRK3

rs10520671

6.20E-05

0.09

(+)




18521090

Response to iloperidone treatment

NUDT9P1

rs4528226

2.80E-04

0.33

-




17952075

Blue vs brown eyes

OCA2

rs1667394

1.40E-124

0.14

+

Blue vs green eyes, Iris color, Black to red hair, Blond vs brown hair, Black to blonde hair

17634449

Coronary artery disease

OLR1

rs4495966

4.00E-02

0.48

+




18535201

Warfarin maintenance dose

ORM1-ORM2 region

rs1490740

3.60E-03

0.18

+




18445777

Spine bone mineral density

OSCAR

rs12150965

6.80E-04

0.11

+




16252231

Parkinson disease

PARK2

ssID: 46559884

1.27E-02

0.48 ∫

+




18159244

Obesity

PCSK1

rs266695

2.68E-02

0.27

+




17903304

Major coronary heart disease

PCSK9

rs2114580

1.00E-02

0.26

(+)

Major CVD

18445777

Hip bone mineral density

PDE4A

rs10405617

1.00E-02

0.37

-




17903297

Similarities

PDE4D†

rs10514882

6.40E-05

>0.10 ∫

(+)

WRAT

18445777

Spine bone mineral density

PDE4D†

rs17774945

2.46E-03

0.08

+




17053108

Wet age-related macular degeneration

PLEKHA1-HTRA1 intergenic region

rs10490924

4.08E-12

0.20

+




18159244

Obesity

PLIN

rs2119606

4.01E-02

0.32

+




17903304

Heart failure

PLN

rs3951042

2.50E-02

0.43

(+)




18445777

Spine bone mineral density

PLOD1-TNFR2 region

rs11569864

3.74E-03

0.08

+




17998437

Alzheimer's disease

POMT1

rs7865761

4.00E-02

0.07

+




17505501

Hepatic adverse events during ximelagatran treatment

PON1†

rs2299257

1.10E-05

0.46

(+)




17903295

Age at death

PON1†

rs2374983

6.00E-03

0.45

+




18445777

Hip bone mineral density

PON1†

rs1639

4.70E-03

0.24

+

Spine BMD

18159244

Obesity

PPARD

rs7758978

1.76E-02

0.40

+




17463248

Type 2 diabetes

PPARG†

rs1801282

1.10E-03

0.10

+




17903300

Mean body mass index

PPARG†

rs2938392

3.00E-03

0.47

+

Mean WC, Obesity

18445777

Spine bone mineral density

PPARG†

rs17793693

4.83E-03

0.12

+




17658951

Hip circumference

PPARGC1A

rs10938963

0.0155

0.41

+

BMI, Weight, Obesity

17658951

Hip circumference

PRDM2

rs2281164

0.0014

0.30

-

BMI, Weight

17903297

Parietal Brain Volume (MRI)

PRNP

rs2326510

7.18E-04

0.24

+

Alzheimer's disease

17903297

Total Cerebral Brain Volume (MRI)

PRSS25

rs363685

5.70E-05

0.01

(+)

ATBV

17998437

Alzheimer's disease

PSEN1

rs3025787

4.00E-02

0.07

+




18445777

Hip bone mineral density

PTHR1

rs2290547

3.50E-03

0.19

+




17554300

Rheumatoid arthritis

PTPN22†

rs6679677

5.55E-25

0.12

+




17554300

Type 1 diabetes

PTPN22†

rs6679677

5.43E-26

0.12

+




18204446

Systemic lupus erythematosus

PTPN22†

rs2476601

5.20E-06

0.12

+




17658951

Hip circumference

PYY

rs2700831

0.0369

0.30

+

BMI

18445777

Hip bone mineral density

RANK

rs3018362

4.25E-05

0.37

+

Spine BMD

17767159

HbF levels

Region 11p15.4 (beta globin locus)

XmnI-Gg

2.00E-30

>0.10 ∫

+




15761122

Age-related macular degeneration

Region 1q31 (CFH)‡

rs380390

4.10E-08

0.45

+




17903302

Arterial stiffness

REN

rs16776

1.20E-02

0.19

(+)




17658951

Hip circumference

RETN

rs12610253

0.0117

0.31

+

BMI, Weight, Obesity

17505501

Hepatic adverse events during ximelagatran treatment

RXRG

rs17469292

7.30E-05

0.04

-




17634449

Coronary artery disease

SELE†

rs3917392

4.00E-02

0.12

+




17658951

Hip circumference

SELE†

rs12127655

0.0116

0.15

(+)

Weight

17634449

Coronary artery disease

SELP

rs6663533

2.00E-02

0.06

+




17903307

Longitudinal slope of FEV1

SERPINA1

rs10484042

1.00E-02

0.04

+




17903307

Longitudinal slope of FEV1

SERPINA3

rs10484047

1.00E-02

0.14

+




18535201

Warfarin maintenance dose

SERPINC1

rs16846546

1.50E-02

0.10

-




17903307

Mean FEV1/FVC from two exams

SERPINE2

rs717610

1.00E-03

0.03

+




17903307

Longitudinal slope of FEV25–75

SFTPD

rs726289

3.00E-02

0.07

+




18464913

SHBG levels

SHBG

rs6761

3.08E-07

0.38

+




18159244

Obesity

SIM1

rs9386144

6.50E-03

0.22

+




18650507

Statin-induced myopathy

SLCO1B1

rs4149056

1.00E-08

0.15

+




17903297

Hippocampal volume (MRI)

SNCA

rs7678651

1.30E-04

0.37

+

Sim, Parkinson disease

17903295

Age at death

SOD2

rs911847

5.00E-03

0.30

+




17903307

Percent predicted FVC for latest exam

SOD3

rs10489030

7.00E-03

0.10

+




17998437

Alzheimer's disease

SORCS1

rs7907690

4.98E-02

0.45

+




17903297

Similarities

SORL1

rs1131497

8.00E-03

0.40

+

Alzheimer's disease

18445777

Hip bone mineral density

SOST

rs1107748

1.10E-04

0.39

+

Spine BMD

18445777

Hip bone mineral density

SOSTDC1

rs7156

4.00E-03

0.35

-

Spine BMD

18204098

Systemic lupus erythematosus

STAT4

rs7574865

9.00E-14

0.23

+




18195134

Response to interferon-b therapy in multiple sclerosis

SYN2

rs60834

2.19E-02

0.18

+




18445777

Spine bone mineral density

TANK

rs7566418

7.49E-03

0.46

+




17293876

Type 2 diabetes

TCF7L2

rs7903146

3.20E-17

0.28

+




17903297

Temporal Brain volume (MRI)

TEK

rs628873

4.90E-04

0.10

-




18445777

Spine bone mineral density

TGFb-1

rs4803455

1.65E-03

0.50

+




17903297

Temporal Brain volume (MRI)

THBS2

rs6937001

6.00E-04

0.16

-




18159244

Obesity

TNF†

rs1046089

4.70E-02

0.30

+




18445777

Spine bone mineral density

TNF†

rs3132453

1.29E-03

0.08

+

Hip BMD

17903303

Ankle brachial index

TNFRSF11B/OPG†

rs10505346

4.00E-02

0.21

(+)




18445777

Spine bone mineral density

TNFRSF11B/OPG†

rs6469804

8.53E-06

0.45

+

BMD, Hip BMD

18445777

Spine bone mineral density

TNFSF11/RANKL

rs9594759

1.17E-08

0.48

+

Hip BMD

17903304

Heart failure

TNNC1

rs1133415

4.00E-02

0.42

(+)




17903304

Heart failure

TNNT2

rs832177

1.50E-02

0.11

(+)




18521090

Response to iloperidone treatment

TNR

rs875326

1.30E-04

0.20

-




17903304

Heart failure

TPM1

rs10519186

1.10E-02

0.24

(+)




18195134

Response to interferon-b therapy in multiple sclerosis

TRAF6

rs10501154

3.52E-02

0.48

+




18204446

Systemic lupus erythematosus

TYK2

rs280519

3.00E-02

0.49

+




17999355

Skin pigmentation

TYR

rs1042602

4.48E-10

0.43

+




18488028

Blue vs non-blue eyes

TYRP1

rs1408799

1.50E-09

0.31

+




17658951

Hip circumference

UCP1

rs2036020

0.021

0.26

+

BMI, Weight

18159244

Obesity

UCP2-UCP3 region

rs1800849

5.70E-03

0.24

+




18159244

Obesity

VDR†

rs7418

2.30E-02

0.21

+




18445777

Hip bone mineral density

VDR†

rs7132324

1.90E-03

0.37

+

Spine BMD, Neck section modulus

17903301

Left ventricular fractional shortening

VEGF

rs729761

1.20E-02

0.25

(+)

LV systolic dimension, Stage 2 Exercise heart rate

18535201

Warfarin maintenance dose

VKORC1

rs10871454

6.20E-13

0.40

+




17903297

Total Cerebral Brain Volume (MRI)

VLDLR

rs502309

5.40E-06

0.03

(+)

Nam

17505501

Hepatic adverse events during ximelagatran treatment

WNT7A

rs1368576

2.50E-04

0.48

-




17903295

Age at death

WRN

rs2543600

4.20E-06

>0.10 ∫

+




18521090

Response to iloperidone treatment

XKR4

rs9643483

1.30E-04

0.32

-



† Different types of phenotypes were found to be associated with these genes suggesting potential pleiotropic effects.

‡ The first genome-wide association study and the candidate-gene study (which renders CFH a candidate gene) were published concomitantly in the same journal issue of Science.

* p-value = 10-25 in the strict definition of stage 1 discovery

Minor allele frequencies are according to data of the International HapMap Project (release #27) and the NCBI dbSNP database and pertain to Caucasian populations. Exceptions are the MAFs marked with ∫, which were obtained from the GWAS articles.

“+” and “(+)” indicate the existence of previous human population study on the same phenotype or a related phenotype respectively, whereas “-” means that no previous human population study was identified (the candidate locus had been proposed based on other considerations only).



PMID: PubMed ID; MAF: Minor allele frequency; LDL-C: Low-density lipoprotein cholesterol; HDL-C: High-density lipoprotein cholesterol; HbF: Fetal hemoglobin; CysC: Cystatin-C; FEV: Forced expiratory volume; FVC: Forced vital capacity; FEF: Forced expiratory flow; CRP: C-Reactive protein; sIL-6R: Soluble interleukin-6 receptor; SHBG: Sex-hormone binding globulin; NA: Not available

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