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Table 1 Summary of INDELs and VNTRs that have been studied for association with common polygenic obesity and its related traits and complications

From: The association of insertions/deletions (INDELs) and variable number tandem repeats (VNTRs) with obesity and its related traits and complications

Gene/nearest gene

INDEL/VNTR

Type(s) [pivotal reference]

Location in human chromosome

FTO

INDELs

13 insertions and 27 deletions (1–9 bp)—16 known in dbSNP and 24 potentially novel [37]

hg18, chr16: 52307514–52699069

LEP

VNTR

(CTTT)n

Type 1 allele: 121–145 [49] or 146–178 bp [51]

Type 2 allele: 197–225 [49] or 165–193 bp [51]

Type 3 allele: 210–254 bp [51]

3912 bp 3′ of the LEP stop codon (476 bp 3′ of the 3′ UTR)

LEPR

STR/VNTR

D1S200: (CA)n; 13–27 repeats; 17 most common [56, 57]

UniSTS: 56325; Chr1 c.77.73 cM

  

D1S3728 [58]

UniSTS: 56029; Chr1 c.89.49 cM

  

D1S1665 [58]

UniSTS: 60783; Chr1 c.99.62 cM

  

(CA)n [59]

Intron 3 of LEPR

  

(CTTT)n [59]

Intron 16 of LEPR

 

INDEL

CTTTA [60]

3′ UTR of LEPR

  

TAT [61]

1078Y codon of LEPR

POMC

STR/VNTR

D2S1788: (GATA)n; 4–20 repeats; 15 most common [62, 63]

UniSTS: 6210; Chr2 55.51 cM

  

D2S2170 [55]

UniSTS: 60770; Chr2 47.98 cM

  

D2S144 [55]

UniSTS: 68025; Chr2 45.3 cM

  

D2S1268 [55]

UniSTS: 149288; Chr2

  

D2S1348 [55]

UniSTS: 54913; Chr2

  

D2S2221 [68]

UniSTS: 32562; Chr2 46.54 cM

  

D2S171 [68]

UniSTS: 73301; Chr2 149.4 cr3000

  

D2S2337 [68]

UniSTS: 14003; Chr2 47.76 cM

 

INDEL

Trinucleotide repeat (9 bp) [69]

Exon 3 of POMC (codon 94)

MC4R

STR/VNTR

D18S851 [81]

UniSTS: 39301; Chr18 382.9 cr3000

  

D18S487 [81]

UniSTS: 84391; Chr18 20924 cr50000

  

D18S69 [81]

UniSTS: 47737; Chr18 2049 cr10000

  

D18S858 [81]; 8–20 repeats; 11/12 most common [57]

UniSTS: 14041; Chr18 80.41 cM

  

D18S849 [81]

UniSTS: 15592; Chr18 430.2 cr3000

  

D18S1155 [81]

UniSTS: 32047; Chr18 81.27 cM

  

D18S64 [81]

UniSTS: 17561; Chr18 84.8 cM

  

D18S38 [81]

UniSTS: 14742; Chr18 84.98 cM

UCP2

STR/VNTR

D11S912 [4, 57, 81]

UniSTS: 72663; Chr11 137.93 cM

 

INDEL

45 bp [88]

3′ UTR of UCP2 exon 8

SLC6A4/5HTT

VNTR

5-HTTLPR 43 bp; 14R (short, S) and 16R (long, L) alleles [102]

1 kb upstream of the SLC6A4/5HTT transcription start site

  

STin2 17 bp; common 10- and 12-repeat alleles and a rare 9-repeat allele [103, 104]

Intron 2 of SLC6A4/5HTT

SLC6A3/DAT1

VNTR

40 bp; 9-repeat (S) and 10-repeat (L) alleles [118]

3′ UTR of SLC6A3/DAT1

DRD2

INDEL

1 bp; dbSNP rs1799732; -141C [121]

5′ UTR of DRD2

DRD4

VNTR

48 bp; 2–10 repeats; 4-repeat (4R or S) and 7-repeat (7R or L) alleles most common [132]

Exon 3 of DRD4

MAOA

VNTR

30 bp; 2-, 3-, 3.5-, 4-, 5-, or 6-repeat copies [151]; 3- and 4-repeat alleles most common [146]

Promoter region of MAOA

TH

VNTR

(TCAT) n ; T6, T7, T8, T9, and T10 alleles [157]

Intron 1 of TH

INS

VNTR

14–15 bp; short class I allele (~570 bp, 26–63 repeats), class II alleles (~1320 bp, about 80 repeats), and the long class III (~2470, 141–209 repeats) [167]

63 bp from the INS transcription starting site (promoter region)

IL1RA

VNTR

86 bp; 1, 2, 3, 4, 5, and 6 repeats; 4-repeat (allele I) and 2-repeat (allele II) most common [196]

Intron 2 of IL1RA

IL4

VNTR

70 bp; 2-repeat (B1) and 3-repeat (B2) alleles most common [209]

Intron 3 of IL4

eNOS/NOS3

VNTR

27 bp; 4-repeat (a) and 5-repeat (b) alleles most common [223]

Intron 4 of eNOS/NOS3

ACE

INDEL

287 bp; dbSNP rs1799752 [241]

Intron 16 of ACE

DOCK5

VNTR

VNTR A; 590–640-bp allele [261]

chr8: 25085372–25085875; ~12 kb upstream of DOCK5

  

VNTR B; 944–1022-, 1112–1127-, 1073–1084-, and 1099–1103-bp alleles [261]

chr8: 25129579–25130501; intron 1 of DOCK5

 

INDEL

3975 bp [261]

chr8: 25122602–25126576; intron 1 of DOCK5

PER3

VNTR

54 bp; 4-repeat and 5-repeat alleles [262]

Exon 18 of PER3