Table 2. The 14 genome-wide significant variants associated with PCOS in the meta-analysis.
Chr:Position1 | rsID | Alleles2 | EAF3 | Beta | Odds Ratio (95% CI)4 | Std. Error | Nearest Gene | P-value | Effective N5 | Ref6 |
---|---|---|---|---|---|---|---|---|---|---|
2:43561780 | rs7563201 | A/[G] | 0.4507 | -0.1081 | 0.90 (0.87–0.93) | 0.0172 | THADA | 3.678e-10 | 17192 | |
2:213391766 | rs2178575 | G/[A] | 0.1512 | 0.1663 | 1.18 (1.13–1.23) | 0.0219 | ERBB4 | 3.344e-14 | 17192 | 17 |
5:131813204 | rs13164856 | [T]/C | 0.7291 | 0.1235 | 1.13 (1.09–1.18) | 0.0193 | IRF1/RAD50 | 1.453e-10 | 17192 | 17 |
8:11623889 | rs804279 | A/[T] | 0.2616 | 0.1276 | 1.14 (1.10–1.18) | 0.0184 | GATA4/NEIL2 | 3.761e-12 | 16895 | 16 |
9:5440589 | rs10739076 | C/[A] | 0.3078 | 0.1097 | 1.12 (1.07–1.16) | 0.0197 | PLGRKT | 2.510e-08 | 17192 | |
9:97723266 | rs7864171 | G/[A] | 0.4284 | -0.0933 | 0.91 (0.88–0.94) | 0.0168 | FANCC | 2.946e-08 | 17192 | 16 |
9:126619233 | rs9696009 | G/[A] | 0.0679 | 0.202 | 1.22 (1.15–1.30) | 0.0311 | DENND1A | 7.958e-11 | 17192 | |
11:30226356 | rs11031005 | [T]/C | 0.8537 | -0.1593 | 0.85 (0.82–0.89) | 0.0223 | ARL14EP/FSHB | 8.664e-13 | 17192 | 16,17 |
11:102043240 | rs11225154 | G/[A] | 0.0941 | 0.1787 | 1.20 (1.13–1.26) | 0.0272 | YAP1 | 5.438e-11 | 17192 | 17 |
11:113949232 | rs1784692 | [A]/G | 0.8237 | 0.1438 | 1.15 (1.10–1.14) | 0.0226 | ZBTB16 | 1.876e-10 | 17192 | |
12:56477694 | rs2271194 | A/[T] | 0.416 | 0.0971 | 1.10 (1.07–1.14) | 0.0166 | ERBB3/RAB5B | 4.568e-09 | 17192 | 17 |
12:75941042 | rs1795379 | C/[T] | 0.2398 | -0.1174 | 0.89 (0.86–0.92 | 0.0195 | KRR1 | 1.808e-09 | 17192 | 17 |
16:52375777 | rs8043701 | [A]/T | 0.815 | -0.1273 | 0.88 (0.85–0.92) | 0.0208 | TOX3 | 9.610e-10 | 17192 | |
20:31420757 | rs853854 | A/[T] | .4989 | -.0975 | 0.91 (0.88–0.94) | 0.0163 | MAPRE1 | 2.358e-09 | 17192 |
1Chr—Chromosome:Position (bp) in hg19;
2Alleles are shown as Major/Minor by allele frequency in 1000G EUR cohort, with the effect allele shown within [];
3Effect allele frequency;
495% Confidence Interval of the Odds Ratio;
5Effective N—effective sample size;
6Ref = Reference.
Loci previously identified in GWAS studies of European ancestry are referenced. Novel associations with PCOS not previously reported are shown in bold. EAF = Effect Allele Frequency.