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Table 1 Summary of DGAT2 variants detected in the coding region, the predicted promoter region and a 5'non-coding exon: 15 (14 novel) identified and 2 previously described (rs1017713 and rs3060), minor allele frequency among all successfully genotyped individuals and results of the case control association studies with cases (extremely obese children and adolescents) and controls (normal- or underweight healthy individuals)

From: Mutation screen and association studies in the Diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13

variant

region

Study group1

minor allele frequency n (%)

p-value2

    

cases

controls

 

g.-9447 A > G

 

exon 01

2

29 (8.06)

33 (8.82)

0.79

c.-584C > G

 

promoter

1

0 (0)

1 (0.53)

nd.

c.-140C > T

 

5'UTR/exon 1

3

2 (0.28)

9 (1.01)

0.13

c.-30C > T

 

5'UTR/exon 1

1

0 (0)

2 (1.06)

nd.

c.475T > C

p.Val82Ala

exon 2

1

1 (0.54)

0 (0)

nd.

g.IVS1+212T > C

rs1017713

exon 2

2

25 (7.65)

26 (7.06)

0.77

g.IVS2-3C > G

 

intron 2

1

0 (0)

1 (0.53)

nd.

c.812A > G

p.Thr194Thr

exon 5

1

1 (0.54)

0 (0)

nd.

c.920T > C

p.Ser230Ser

exon 6

1

1 (0.54)

0 (0)

nd.

c.1020G > A

p.Arg297Gln

exon 7

1

0 (0)

2 (1.06)

nd.

c.1492G > A

p.Gly318Ser

exon 7

1

0 (0)

2 (1.06)

nd.

g.IVS7+23C > T

 

intron 7

1

1 (0.54)

0 (0)

nd.

g.IVS7+73C > T

 

intron 7

1

2 (1.08)

0 (0)

nd.

g.IVS7+164(TAG)2–3

rs3841596

intron 7

2

24 (6.67)

28 (7.61)

0.67

c.1383C > G

p.Leu385Val

exon 8

1

0 (0)

1 (0.53)

nd.

g.*19T > C

rs3060

3'UTR/exon 8

2

27 (7.50)

27 (7.76)

1

g.*22C > T

 

3'UTR/exon 8

1

1 (0.54)

0 (0)

nd.

  1. Hardy Weinberg equilibrium was fulfilled (all exact p > > 0.20). 1for descriptions of study groups see Methods; 2Fisher's exact test, two-sided.