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Table 5 Association analysis for the relationship between validated SNPs in the explored candidate genes and quantitative variables of hyperandrogenemia in PCOS with genetic effect sizes estimates derived for a log-additive genetic model (MC4R rs2229616 dominant genetic model) for the minor allele (see also Table 1).

From: Large effects on body mass index and insulin resistance of fat mass and obesity associated gene (FTO) variants in patients with polycystic ovary syndrome (PCOS)

  testosterone [nmol/l] FAI bioavailable testosterone [ng/ml]
gene (SNP) minor allele β 95% CI p β 95% CI p β 95% CI p
FTO (rs9939609) A -0.01 (-0.41;0.39) 0.95 5.25 (-7.11;17.60) 0.41 0.03 (-0.09;0.15) 0.64
INSIG2 (rs7566605) C -0.16 (-0.58;0.26) 0.46 -6.33 (-19.36;6.71) 0.34 -0.07 (-0.20;0.05) 0.25
TCF7L2 (rs7903146) T 0.20 (-0.25;0.64) 0.38 7.93 (-5.90;21.77) 0.26 0.04 (-0.09;0.18) 0.50
MC4R (rs2229616) T -0.28 (-1.88;1.32) 0.73 -12.18 (-60.54;36.17) 0.62 -0.08 (-0.54;0.38) 0.73
MC4R (rs17782313) C -0.25 (-0.70;0.19) 0.27 -3.47 (-17.33;10.40) 0.62 -0.05 (-0.18;0.08) 0.46
MC4R (rs12970134) A 0.15 (-0.29;0.58) 0.51 7.26 (-5.97;20.49) 0.28 0.07 (-0.06;0.19) 0.30
  1. SNP = single nucleotide polymorphism; FAI = free androgen index