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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.