Table 1.
SNP and microsatellite markers genotyped in 312 PCOS study participants
| Gene | Marker | Alleles | MAFa | MAFb | Location |
|---|---|---|---|---|---|
| STK11 | rs741765 | C/T | T: 0.15 | T: 0.22 | Intron |
| STK11 | rs8111699 | C/G | C: 0.53 | C: 0.50 | Intron |
| ESR1 | rs2234693 | C/T | C: 0.41 | C: 0.44 | Intron: IVS-401/PvuII (8) |
| CYP2C9 | rs1934963 | C/T | C: 0.15 | C: 0.16 | Intron |
| CYP2C9 | rs1799853 | C/T | T: 0.10 | T: 0.10 | Cys144Arg |
| CYP2D6 | rs3892097 | C/T | T: 0.18 | T: 0.16 | Acceptor splice site: 1846G>A |
| FBN3 | D19S884 | A8/Xc | A8: 0.17 | A8: 0.19 | Intron (12) |
a
Minor allele frequency (MAF) was taken from dbSNP (http://www.ncbi.nlm.nih.gov/SNP).
b
Minor allele frequency estimated in the present study.
c
D19S884 alleles are described by Stewart et al. (12). D19S884-allele 8 (A8) was chosen for analysis because of its association with PCOS. X, any allele other than allele 8.