Keildson et al. (2014b) performed an eQTL investigation using skeletal muscle biopsies from 104 human subjects and identified an association between the rs4547172 SNP and muscle phosphofructokinase gene (PFKM) expression. Furthermore, the study found that increased expression of PFKM was associated with increased resting plasma insulin (an endophenotype) and T2D (an end-point phenotype). Here, PFKM is linked to type 2 diabetes mellitus.