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Table 4 Association analysis for the relationship between validated SNPs in the explored candidate genes and PCOS symptoms (present/absent) with genetic effect sizes estimates derived for an 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)

  chronic anovulation hirsutism-score [F/G] > 7 hirsutism-score [F/G] alopecia acne PCO
gene (SNP) minor allele OR 95% CI p OR β 95% CI p OR 95% CI p OR 95% CI p OR 95% CI p
FTO (rs9939609) A 1.29 (0.70;2.37) 0.41 1.15 0.34 (0.87;1.54) (0,59;1.28) 0.33 0.47 0.90 (0.65;1.24) 0.50 0.97 (0.73;1.30) 0.85 0.57 (0.36;0.88) 0.01
INSIG2 (rs7566605) C 1.02 (0.54;1.90) 0.96 1.03 -0.08 (0.76;1.38) (1.06;0.90) 0.87 0.87 1.17 (0.83;1.64) 0.37 1.00 (0.74;1.35) 0.99 1.02 (0.65;1.60) 0.93
TCF7L2 (rs7903146) T 0.64 (0.35;1.18) 0.15 0.88 0.09 (0.64;1.21) (0.95;1.12) 0.44 0.87 0.75 (0.51;1.08) 0.12 0.84 (0.61;1.15) 0.28 0.77 (0.48;1.21) 0.25
MC4R (rs2229616) T - - - 1.73 -0.39 (0.51;5.84) (4.16;3.38) 0.38 0.84 0.91 (0.24;3.46) 0.89 0.54 (0.16;1.82) 0.32 1.48 (0.18;12.50) 0.71
MC4R (rs17782313) C 1.01 (0.52;1.95) 0.98 0.85 0.16 (0.62;1.17) (0.88;1.21) 0.33 0.76 1.01 (0.70;1.44) 0.98 1.04 (0.76;1.43) 0.81 0.95 (0.59;1.52) 0.82
MC4R (rs12970134) A 0.74 (0.39;1.39) 0.34 0.97 0.40 (0.71;1.32) (0.60;1.41) 0.83 0.43 1.09 (0.77;1.54) 0.62 1.06 (0.78;1.45) 0.70 1.03 (0.64;1.64) 0.71
  1. SNP = single nucleotide polymorphism; F/G = hirsutism-score by Ferriman/Gallwey
  2. Note that the hirsutism-score was also evaluated quantitatively similar to the other quantitative measures (in italics).