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. Author manuscript; available in PMC: 2019 Dec 7.
Published in final edited form as: Int J Obes (Lond). 2019 Apr 3;43(12):2480–2490. doi: 10.1038/s41366-019-0350-z

Figure 5. Hypothesized regulating path from rs12409479 to trunk fat development.

Figure 5.

Based on our GWAS and functional investigation results, we hypothesized a regulating path from rs12409479 to trunk fat through PTBP2 gene. In this diagram, rs12409479 binds to an unknown transcription factor to form a complex that regulates PTBP2 gene expression. Specifically, allele A is more capable of binding to the transcription factor (EMSA) and upregulates PTBP2 (eQTL). PTBP2 in turn regulates trunk fat development in an upward direction (differential gene expression analysis). Consequently, allele A of rs12409479 upregulates trunk fat mass, as evidenced by the association study. The red lines represent upregulation and the green lines represent downregulation.