Table 1

Characteristics of PPARGC1A SNPs genotyped in 959 subjects

SNP name*rs no.HUGO nameDistance from TSS (bp)Gene regionMinor allele frequency
m9722rs10030083NT_006316.15g0.14576780C>A−9,722Upstream0.19 ± 0.01
m1668rs2970869NT_006316.15g0.14568727G>A−1,668Upstream0.26 ± 0.01
i5378rs2946385NM_013261.3r0.234 + 52G>T5,378Intron 20.43 ± 0.02
i15867rs10028665NM_013261.3r0.234 + 10541C>T15,867Intron 20.16 ± 0.01
i27289rs4235308NM_013261.3r0.234 + 21963A>G27,289Intron 20.39 ± 0.02
i55301rs4697046NM_013261.3r0.235–3026A>G55,301Intron 20.37 ± 0.02
G482Srs8192678NP_037393.1p.Gly482Ser76,039Exon 80.29 ± 0.01
T612Mrs3736265NP_037393.1p.Thr612Met76,994Exon 90.06 ± 0.01
3U4898rs3774923NM_013261.3r0.4778G>A96,6373′-Untranslated region, exon 130.04 ± 0.01
  • Data are means ± SE.

  • * m indicates a SNP is located in the promoter or upstream of the gene; i is in the intron; 3U is in the 3′-untranslated region; and others are substitution changes in exons.

  • HUGO names of SNPs are based on nomenclature recommendations of the Human Genome Variation Society (http://www.hgvs.org/rec.html).

  • TSS, transcription start site.