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Table 2 Loci selected for association analysis in POF and controls.

From: ESR1, HK3 and BRSK1 gene variants are associated with both age at natural menopause and premature ovarian failure

All samples (371 cases and 800 controls) Gene information Phenotype related
CHR BP SNP F_MISS HWE_P A1 F_A F_U A2 P OR   
3 12423994 rs4135280 0.008333 0.2789 C 0.2861 0.2738 T 0.5321 1.063 PPARG AANM
5 6692179 rs494958 0.009167 0.3597 T 0.2263 0.2237 A 0.8881 1.015 SRD5A1 AANM
5 176247040 rs2278493 0.008333 0.08305 A 0.3451 0.3881 G 0.0432 0.8309 HK3 AANM
5 176255904 rs691141 0.0175 0.682 T 0.4747 0.4608 C 0.5302 1.057 HK3 AANM
5 176290671 rs7718874 0.01083 0.4156 T 0.4696 0.4765 C 0.7525 0.9726 RAP80 AANM
5 176311180 rs365132 0.0175 0.4133 C 0.4669 0.4744 A 0.7343 0.9704 RAP80 AANM
5 176367046 rs402511 0.01833 0.293 C 0.4707 0.4769 T 0.7792 0.9755 RAP80 AANM
5 176436169 rs244715 0.01083 0.3229 A 0.4842 0.4703 G 0.5254 1.058 intergenic EM
6 11005474 rs2153157 0.0275 0.5569 G 0.3484 0.335 A 0.5233 1.061 SYCP2L AANM
6 31648292 rs909253 0.01333 0.0382 C 0.4134 0.3829 T 0.1564 1.136 TNF AANM
6 152205028 rs2234693 0.01 0.7176 C 0.3655 0.4217 T 0.009057 0.79 ESR1 POF/AANM
6 152205074 rs9340799 0.006667 0.7148 G 0.189 0.2016 A 0.4703 0.9228 ESR1 POF/AANM
6 152370309 rs1569788 0.008333 0.7268 T 0.453 0.474 C 0.338 0.9191 ESR1 POF/AANM
6 160419555 rs2297362 0.008333 0.9062 C 0.4301 0.4383 T 0.7047 0.9669 IGF2R AANM
6 160423646 rs9457827 0.01417 0.9059 T 0.4312 0.4379 C 0.7602 0.9732 IGF2R AANM
7 33351787 rs3884597 0.009167 0.222 T 0.467 0.4784 G 0.6047 0.9554 PTHB1 POF
7 33390485 rs6944723 0.01083 1 A 0.4459 0.4183 T 0.2051 1.119 PTHB1 POF
8 91019056 rs2697679 0.009167 0.5546 G 0.4195 0.437 T 0.4217 0.931 NBN AANM
8 91082415 rs7011299 0.015 0.5509 G 0.4237 0.4202 C 0.8727 1.014 NBN AANM
9 100955986 rs1590 0.0075 0.1803 G 0.4581 0.466 T 0.7184 0.9687 TGFBR1 AANM
11 30196754 rs11031010 0.0125 0.4482 A 0.04319 0.04047 C 0.7559 1.07 FSHB AANM
11 112786283 rs6279 0.0075 0.05507 C 0.4619 0.4747 G 0.5609 0.9501 ANKK1 AANM
13 111017433 rs1361542 0.005833 0.396 A 0.03665 0.03391 G 0.7332 1.084 intergenic AANM
13 111017854 rs1756091 0.006667 0.3965 A 0.03655 0.03461 C 0.8101 1.058 intergenic AANM
13 111019298 rs7333181 0.0075 0.3965 A 0.03655 0.03465 G 0.8143 1.057 intergenic AANM
13 111019632 rs1163623 0.003333 0.3965 C 0.03627 0.03457 T 0.8326 1.051 intergenic AANM
15 49335997 rs11856927 0.005833 0.6833 C 0.4532 0.4641 A 0.6187 0.9572 CYP19A1 AANM
15 87670333 rs2351002 0.01083 0.5205 G 0.3521 0.3398 C 0.5542 1.056 POLG AANM
18 44721958 rs4939833 0.0075 0.1067 G 0.03403 0.04203 A 0.3495 0.803 SMAD7 AANM
19 60492141 rs12611091 0.005833 0.8633 T 0.2422 0.2001 C 0.01892 1.278 BRSK1 AANM
19 60506693 rs1551562 0.01917 0.161 G 0.06016 0.06974 A 0.3858 0.8539 BRSK1 AANM
19 60511657 rs1172822 0.008333 0.384 T 0.0953 0.09046 C 0.7026 1.059 BRSK1 AANM
19 60516144 rs7246479 0.0075 0.4537 C 0.1929 0.1895 A 0.8435 1.022 BRSK1 AANM
19 60523000 rs2384687 0.006667 0.4769 C 0.08877 0.09023 T 0.9072 0.9822 TMEM150B AANM
19 60525476 rs11668344 0.005833 0.4762 C 0.08724 0.08962 T 0.8488 0.9709 TMEM150B AANM
19 60525566 rs897798 0.0075 0.6029 C 0.08924 0.09383 T 0.7183 0.9463 TMEM150B AANM
11 30203352 rs621686 0.01417 1 G 0.002653 0.00062 A 0.1956 4.285 FSHB AANM
11 30218544 rs7951733 0.003333 1 G 0 0.000617 A 0.4899 0 FSHB AANM
11 100477546 rs619487 0.003333 1 C 0.003886 0.006173 A 0.4769 0.6281 PGR AANM
12 101388555 rs1019731 0.0075 1 T 0.002611 0.003094 G 0.8388 0.8435 IGF1 AANM
20 5896227 rs16991615 0.01167 1 A 0.001316 0.001241 G 0.9617 1.061 MCM8 EM
  1. CRH: Chromosome; SNP: Single-nucleotide polymorphism; HWE_P: Hardy-Weinberg principle; F_A, F_U indicate the allele frequency in cases and controls, respectively