Table 7.
Allele frequencies for relevant genetic variants associated with PCOS treatment response in human populations worldwide.
Gene | Reference SNP | Discovery cohort | Consequence | WT > M | Human Populations | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Caucasians | Latin American | Asian | African | |||||||||
IRS-1 | rs1801278 (Gly971Arg) | NS | Missense mutation | C > G,T* | Finland | 0.06 | Colombia | 0.03 | China | 0.01 | Barbados | 0.07 |
Great Britain | 0.04 | Mexico | 0.02 | Japan | 0.05 | USA | 0.06 | |||||
Spain | 0.15 | Peru | 0.02 | Vietnam | 0.01 | Gambia | 0.04 | |||||
Italia | 0.08 | Puerto Rico | 0.05 | Bangladesh | 0.05 | Nigeria | 0.11 | |||||
STK11 | rs8111699 | Caucasian | Intron mutation | C* > G | Finland | 0.50 | Colombia | 0.45 | China | 0.01 | Barbados | 0.32 |
Great Britain | 0.51 | Mexico | 0.58 | Japan | 0.01 | USA | 0.42 | |||||
Spain | 0.55 | Peru | 0.39 | Vietnam | 0.01 | Gambia | 0.27 | |||||
Italia | 0.51 | Puerto Rico | 0.49 | Bangladesh | 0.33 | Nigeria | 0.44 | |||||
SLC22A1 | rs12208357 (Arg61Cys) | Caucasian | Missense mutation | C > T* | Finland | 0.06 | Colombia | 0.04 | China | 0.00 | Barbados | 0.02 |
Great Britain | 0.06 | Mexico | 0.02 | Japan | 0.00 | USA | 0.02 | |||||
Spain | 0.05 | Peru | 0.01 | Vietnam | 0.00 | Gambia | 0.00 | |||||
Italia | 0.06 | Puerto Rico | 0.02 | Bangladesh | 0.02 | Nigeria | 0.00 | |||||
SLC22A1 | rs34130495 (Gly401Ser) | Caucasian | Missense mutation | G > A* | Finland | 0.02 | Colombia | 0.01 | China | 0.00 | Barbados | 0.01 |
Great Britain | 0.02 | Mexico | 0.01 | Japan | 0.00 | USA | 0.02 | |||||
Spain | 0.03 | Peru | 0.01 | Vietnam | 0.00 | Gambia | 0.00 | |||||
Italia | 0.02 | Puerto Rico | 0.01 | Bangladesh | 0.01 | Nigeria | 0.00 | |||||
SLC22A1 | rs34059508 (Gly465Arg) | Caucasian | Missense mutation | G > A*,C | Finland | 0.01 | Colombia | 0.02 | China | 0.00 | Barbados | 0.00 |
Great Britain | 0.04 | Mexico | 0.04 | Japan | 0.00 | USA | 0.00 | |||||
Spain | 0.02 | Peru | 0.02 | Vietnam | 0.00 | Gambia | 0.00 | |||||
Italia | 0.01 | Puerto Rico | 0.01 | Bangladesh | 0.00 | Nigeria | 0.00 | |||||
SLC22A1 | rs72552763 | Caucasian | Inframe deletion | ATGAT > AT* | Finland | 0.16 | Colombia | 0.27 | China | 0.01 | Barbados | 0.06 |
Great Britain | 0.21 | Mexico | 0.37 | Japan | 0.00 | USA | 0.07 | |||||
Spain | 0.16 | Peru | 0.38 | Vietnam | 0.02 | Gambia | 0.03 | |||||
Italia | 0.20 | Puerto Rico | 0.18 | Bangladesh | 0.12 | Nigeria | 0.03 | |||||
SLC22A1 | rs683369 (Leu160Phe) | Asian | Missense mutation | C > A, G*,T | Finland | 0.19 | Colombia | 0.19 | China | 0.12 | Barbados | 0.04 |
Great Britain | 0.23 | Mexico | 0.05 | Japan | 0.13 | USA | 0.05 | |||||
Spain | 0.24 | Peru | 0.04 | Vietnam | 0.14 | Gambia | 0.00 | |||||
Italia | 0.17 | Puerto Rico | 0.13 | Bangladesh | 0.15 | Nigeria | 0.00 | |||||
SLC22A1 | rs628031 (Met408Val) | Asian | Missense mutation | G > A*,C | Finland | 0.49 | Colombia | 0.35 | China | 0.22 | Barbados | 0.23 |
Great Britain | 0.39 | Mexico | 0.12 | Japan | 0.19 | USA | 0.29 | |||||
Spain | 0.43 | Peru | 0.10 | Vietnam | 0.25 | Gambia | 0.32 | |||||
Italia | 0.34 | Puerto Rico | 0.26 | Bangladesh | 0.39 | Nigeria | 0.23 | |||||
FSHR | rs6166 (Ser680Asn) | Caucasian | Missense mutation | T > C* | Finland | 0.50 | Colombia | 0.44 | China | 0.30 | Barbados | 0.37 |
Great Britain | 0.44 | Mexico | 0.34 | Japan | 0.34 | USA | 0.43 | |||||
Spain | 0.43 | Peru | 0.41 | Vietnam | 0.32 | Gambia | 0.35 | |||||
Italia | 0.46 | Puerto Rico | 0.48 | Bangladesh | 0.36 | Nigeria | 0.48 | |||||
FSHR | rs6165 (Ala307Thr) | Caucasian | Missense mutation | C > G,T* | Finland | 0.50 | Colombia | 0.56 | China | 0.67 | Barbados | 0.26 |
Great Britain | 0.56 | Mexico | 0.67 | Japan | 0.64 | USA | 0.38 | |||||
Spain | 0.57 | Peru | 0.66 | Vietnam | 0.65 | Gambia | 0.20 | |||||
Italia | 0.53 | Puerto Rico | 0.48 | Bangladesh | 0.63 | Nigeria | 0.23 |
aFrequency of the minor allele marker with *, NS, not stated; WT, wild type; M, mutant allele.