Table 1 Epigenome-wide DNA methylation association analyses of obesity in different populations

Martin et al. [20]

187 mother-female /173 mother-male offsprings

Cord blood leukocytes

BMI z-score

(BMIz)

TAPBP (female offspring)

876; 293

Jönsson et al. [21]

208

Cord blood

BMIz

DISC1, GBX2, HERC2, HUWE1

379

Huang et al. [22]

78

Whole blood

BMIz

FYN, PIWIL4, TAOK3

129 differentially methylated CpG

Fradin et al. [23]

40

Whole blood cells

BMI, BMIz

LMX1A, ACSF3

31 CpGs (obesity); 151 (severe obesity, > 10%)

Rzehak et al. [24]

374

Whole blood

BMI, fat-mass, fat-free-mass, fat-mass-index, fat-free-mass-index

SNED1(IRE-BP1), KLHL6, WDR51A(POC1A), CYTH4-ELFN2, CFLAR, PRDM14, SOS1, ZNF643(ZFP69B), ST6GAL1, C3orf70, CILP2, MLLT4

BMI (212), fat-mass (230), fat-free-mass (120), fat-mass-index (24), fat-free-mass-index (15)

Li et al. [25]

3 obese cases, 4 controls; 39 obese cases, 42 controls

Peripheral blood leukocytes

BMI

HDAC4, RAX2; SLC25A20; APOA5 and CES1 (negative correlation)

4 85 000 methylation sites, 226 methylated CpGs

Samblas et al. [26]

24; 91

White blood cells

BMIz

VIPR2, GRIN2D, ADCYAP1R1, PER3, PTPRS; PTPRS, PER3 with BMI z-score

734

Huang et al. [27]

265

Leukocytes

BMIz

ATOH8, CDC37/MIR1181, COMT/TXNRD2, DDX10, TAS2R40, TBCD

6 (mid-childhood)

He et al. [28]

263

Peripheral leukocytes

BMI

SIM1

28

Sherwood et al. [29]

297

Peripheral blood

BMI trajectories

LEP

23; cg23381058 (early transient overweight trajectory), cg05091920 (early persistent obesity trajectory)

Wang et al. [30]

325

Whole blood

BMI status transition

P2RX4, RADIL

174

Vehmeijer et al. [31]

4133 children from 23 studies

Cord blood and whole blood

BMI

SFRP5, SLC43A2, SFXN5

187

Xu et al. [32]

48 obese, 48 lean

Peripheral blood samples

BMI

-

23, 305

Wang et al. [33]

700, 188, 2097

Neutrophils, Leukocytes

BMI

HRASLS2, SOCS3, CISH, PIM3, KLF4, HRASLS2

76 (novel 29)

Wilson et al. [34]

871 women, 187 women

Blood samples

BMI

ANGPT4, RORC, SOCS3, FSD2, XYLT1, ABCG1, STK39, ASB2, CRHR2

4 CpG sites FDR q < 0.05

Kvaløy et al. [35]

60 lean, 60 obese

Leucocyte

BMI

TEX41, IGHE/IGHG1/IGHD, DMAP1, SETBP1 (novel findings); COX6A1P/FGD2, SBNO2, RPS6KA2, SOCS3

10 differentially methylated CpG sites

Shen et al. [36]

927 Mexican American women

Blood DNA samples

BMI, Weight change

HIF3A

3 (position 46,801,557, 46,801,642, 46,801,699)

Guay et al. [37]

61

30

Blood and visceral adipose tissue (VAT)

Waist-to-hip ratio

ADRB3

-

Skuladottir et al. [38]

16

Whole blood samples

Weight

SCD1

3 (cg00954566, cg24503796, cg14089512)

Keller et al. [39]

120 (90% men)

Blood samples

BMI, Weight-loss

LRRC27, CRISP2, SLFN12, NUDT3, NCOR2

15 (negatively correlated with weight change)

Ollikainen et al. [40]

30 twin pairs

Leukocyte DNA

BMI

-

No differentially methylated CpG sites between co-twins discordant for BMI

Li et al. [41]

90, Obesity: 23 pairs of twins (7-16y), including 12 male pairs

Peripheral blood samples

Weight, waist circumference (WC)

cg05684382 (chr: 12) and cg26188191 (chr: 16)

817471 qualified CpG loci; No positive sites

Li et al. [42]

30 twin pairs (15 male and 15 female pairs)

Whole blood samples

BMI

-

136; No CpGs reached genome-wide significance

Demerath et al. [43]

2097, 2377, 991, 648

Leukocyte DNA, Whole-blood DNA

BMI, WC

HIF3A, CPT1A, ABCG1, LGALS3BP, KDM2B, PBX1, BBS2

Probes: 76 BMI-related, 164 WC-related, 8 BMI change-related

Xu et al. [44]

510

Whole blood samples

BMI

SOCS3

20 (including novel cg18181703)

Sun et al. [45]

995 whites, 490 blacks; 252 whites, 228 blacks; 439 whites, 201 blacks

Whole blood samples

BMI

PROC, PLCH1, SOX2OT, BCL9L, SBNO2, ABCG1

349 (266 novel) in whites, 36 (21 novel) in blacks

Meeks et al. [46]

547

Whole blood samples

BMI, WC

CPT1A, NLRC5, BCAT1

18 Differentially methylated positions (DMPs) for BMI and 23 for WC, 14 DMPs overlapped between BMI and WC

Giri et al. [47]

236

Peripheral blood samples

BMI

BAI3, SLC22A11, ZNF45

53; 19 (BAI3), 25 (SLC22A11) and 9 (ZNF45)

Dick et al. [48]

479

339

1789

Whole-blood DNA; adipose tissue (n = 635) and skin (n = 395)

BMI

HIF3A

-cg22891070, cg27146050, cg16672562

Sayols-Baixeras et al. [49]

641

2,515

Blood DNA

BMI, WC

Located in 95 loci; INTU, SFRP2, RUNX2, CTTNBP2, CPT1A, CACNA1C, MCF2L, BCL2L2, MPG, KRT16

94 (BMI, 70 novel) and 49 (WC, 33 novel)

Mendelson et al. [50]

3,743; replication in 3 external cohorts of 4,055 participants

Whole-blood-derived DNA

BMI

SREBF1

83

Dhana et al. [51]

1,450

2,097

Leukocytes

BMI, WC

MSI2, LARS2, BRDT, PSMD1, IFI44L, MAP1A, MAP3K5, LGALS3BP, MAP2K3, DHCR24, CPSF4L, TMEM49

14 (BMI) and 26 (WC)

Do et al. [52]

46 studies

Blood-based DNA

BMI, WC

-

77 (BMI) and 4 (WC)

Nikpay et al. [53]

-

Blood-based DNA

BMI

CCNL1, MAST3, SLC5A11, POMC, ADCY3, DNAJC27

cg21178254, cg02814054, cg06028605, cg01884057

Benton et al. [54]

15 women

Subcutaneous and omental adipose tissue

BMI

PROX1, PHACTR1, SLC22A8, SMAD3, LCAT, DNM2, LEPR, STAB1, ZNF608, HMGA1, MSRA, TUB, NRXN3, FTO, MC4R

485,577

Dahlman et al. [55]

16 women

Abdominal subcutaneous fat cells

BMI

mapped to 3717 unique genes

8504

Rönn et al. [56]

23 healthy men

Adipose tissue

BMI

RALBP1, HDAC4, NCOR2, TCF7L2, KCNQ1

485,577 probes covering 99% RefSeq genes; 17,975 (7,663 genes)

Macartney-Coxson et al. [57]

681 (subcutaneous)

33 (omental)

White adipose tissue depots

BMI

PITX2, ISL2, ATP2C2

784 and 1129 extended regions

Keller et al. [58]

39 (Men),

66 (women)

Subcutaneous adipose tissue (SAT) and omental visceral adipose tissue (OVAT)

BMI

HAND2, HOXC6, PPARG, SORBS2, CD36, CLDN1

1381 differentially methylated genes (SAT vs OVAT)

Crujeiras et al. [59]

45 (obese)

8–10 (non-obese)

Subcutaneous adipose tissue and circulating leukocytes

BMI

FGFRL1, NCAPH2, PNKD, SMAD3

–

Turner et al. [60]

9 (young male)

5 (older adults)

Skeletal muscle tissue

-

KIF15, DYRK2, FHL2, MRPS33, ABCA17P, HOXD10, HOXD9, HOXD8, HOXA3, HOXC9, HOXB1, HOXB3, HOXC-AS2, HOXC10, HOXC-AS3

6–8

Prats-Puig et al. [61]

16 pregnant women (8 obesity; 8 control)

Umbilical cord tissue

BMI

MYL6, MYH11, TNNT3, TPM2, CXCL2, NCAM1

38

Sillanpää et al. [62]

139

47

Blood and muscle tissue

BMI

Body composition

-

–

Day et al. [63]

7 obese females

Skeletal muscle

BMI

SORBS3

30

Nogues et al. [64]

30 women

Fetal and maternal sides of third-trimester placenta

BMI

LEP, ADPN

–

Gagné-Ouellet et al. [65]

262 mother–offspring

Placental DNA

BMI

TFAP2E, FAM3C, FMN1, MAGI2, SKAP2, BMPR1B

cg22593959 (lower) and cg22436429 (higher)

Daniels et al. [66]

135

Women and Infants (1–2 days)

Placenta

Weight, weight gain

LEP

–

Breton et al. [67]

276 mother–child dyads

Placenta

BMI

NEGR1

30 CpGs; cg26153364, cg23166710, cg04932878, cg1652573, cg23166710

Shrestha et al. [68]

301

Placenta

BMI, rate of gestational weight gain

EGFL7, VEZT, MYT1L, DLX5, SLC35F3

cg14568196, cg15339142, cg02301019 cg17918270, cg20735365, cg17451688, cg1456819

Rounge et al. [69]

50 lean, 50 heavy adolescent girls

Saliva

BMI

MC2R, IGFBPL1, IP6K1, IGF2BP1

100 (7 regions)

Oelsner et al. [70]

92

Saliva samples

BMI, weight gain

FSTL1, SORCS2, NRF1, DLC1, PPARGC1B, CHN2, NXPH1

17 (5 decreased methylation)

Dunstan et al. [71]

431 adolescents aged 10–15 years

Saliva samples

BMIz, WC, and percent body fat

LEP, ICAM-1, CRH, LINE-1

3

Kaufman et al. [72]

321

234

Saliva

BMI

PCK2, CxCl10, BCAT1, HID1, PRDM16, MADD, PXDN, GALE

10

Li et al. [73]

232

Saliva samples

BMI

-

28,587

Aslibekyan et al. [74]

991

Replicatin: 2,377, 2,097

CD4⁺ T-cells; Replicatin in whole blood samples

BMI, WC

CPT1A, PHGDH, CD38

8 (BMI) and 5 (WC)