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. 2020 Oct 26;11:585130. doi: 10.3389/fendo.2020.585130

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.