Table 1: Comparison of genotype associations with PCOS.

Gene SNP Mutation A.A change Sample size Association (Yes/No) Population
KISS1 rs4889 C/G Pro → Arg PCOS = 28
Controls = 30
Yes Saudi Arabian Albalawi FS, et al. [70]
GnRH1 rs6185 G/C Trp → Ser PCOS = 518
Controls = 2996
No Caucasian Valkenburg O, et al. [26]
FSHR rs6165 G/A Ala → Thr PCOS = 235
Controls = 128
No Korean Gu BH, et al. [37]
rs6165 PCOS = 44
Controls = 50
No Turkish Unsal T, et al. [39]
rs6165 PCOS = 40
Controls = 66
Yes Italian Dolfin E, et al. [38]
rs6165 PCOS = 96
Controls = 426
Yes Japanese Sudo S, et al. [40]
rs6165 POF = 40
PCOS = 60
Controls = 90
Yes Chinese Du J, et al. [41]
FSHR rs6166 G/A Ser → Asn PCOS = 44
Controls = 50
No Turkish Unsal T, et al. [39]
rs6166 PCOS = 58
Controls = 80
No UK Mohiyiddeen L, et al. [42]
rs6166 PCOS = 235
Controls = 128
Yes Korean Gu BH, et al. [37]
FSHR Various polymorphism PCOS = 50
Controls = 50
No Italian Orio F Jr, et al. [43]
FSHB rs6169 C/T Tyr → Tyr PCOS = 135
Controls = 105
No Singapore Chinese Tong Y, et al. [44]
LHB rs1800447/ rs3449826 T/C
A/G
Trp → Arg
IIe → Thr
PCOS = 130
Controls = 96
Associated with ↑ Testosterone levels Brazilian Batista MC, et al. [71]
LHCGR rs2293275 A/G Asn → Ser PCOS = 518
Controls = 2996
No Caucasian Valkenburg O, et al. [26]
rs2293275 PCOS = 198 Controls = 187 Yes Sardinian Capalbo A, et al. [54]
rs2293275 PCOS = 100
Controls = 60
Yes Egyptian Bassiouny YA, et al. [66]