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] |