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. 2018 Nov 29;34(1):127–136. doi: 10.1093/humrep/dey343

Table V.

Association analysis for BMI-increasing GWAS risk alleles with the diagnosis of PCOS.

Chr Position SNP Nearest gene(s) Risk increasing allele Risk allele frequency OR 95%_CI P value
- - Genetic risk score - - - 1.043 1.01–1.08 0.012
1 47457264 rs977747 TAL1 T 0.392 0.96 0.73–1.28 0.80
1 49210592 rs3127553a AGBL4 G 0.372 0.96 0.73–1.26 0.77
1 50332407 rs11583200 ELAVL4 C 0.386 1.00 0.76–1.32 0.98
1 72523773 rs3101336 NEGR1 C 0.642 1.14 0.87–1.51 0.34
1 74764232 rs1514175a FPGT, TNNI3K T 0.435 1.00 0.75–1.32 0.97
1 78219349 rs12401738 FUBP1 A 0.327 0.85 0.64–1.13 0.26
1 96696685 rs11165643 PTBP2 T 0.573 0.93 0.71–1.23 0.62
1 109956211 rs17024393 GNAT2 C 0.028 1.18 0.53–2.76 0.70
1 176156103 rs543874 SEC16B G 0.192 1.23 0.88–1.73 0.22
1 200050910 rs2820292 NAV1 C 0.539 1.14 0.86–1.49 0.36
2 622348 rs13021737 TMEM18 G 0.804 0.96 0.66–1.38 0.81
2 25003800 rs10182181 ADCY3 G 0.478 1.19 0.91–1.56 0.20
2 26782315 rs11126666 KCNK3 A 0.261 0.87 0.63–1.20 0.39
2 59159129 rs1016287 LINC01122 T 0.289 1.02 0.75–1.40 0.88
2 62906552 rs11688816 EHBP1 G 0.511 1.03 0.79–1.37 0.78
2 142759755 rs2121279 LRP1B T 0.121 1.37 0.90–2.11 0.14
2 164275935 rs1460676 FIGN C 0.167 1.29 0.90–1.87 0.17
2 181259207 rs1528435 UBE2E3 T 0.623 1.20 0.90–1.60 0.22
2 207963763 rs17203016 CREB1 G 0.178 0.71 0.50–1.01 0.057
2 213121476 rs7599312 ERBB4 G 0.736 0.83 0.61–1.13 0.26
2 219057996 rs492400 USP37 C 0.427 1.03 0.78–1.37 0.83
2 226824609 rs2972143a LOC646736 A 0.35 1.31 0.98–1.76 0.069
3 25081441 rs6804842 RARB G 0.583 0.94 0.71–1.24 0.64
3 61211502 rs2365389 FHIT C 0.598 1.05 0.79–1.39 0.75
3 85912107 rs7622475a CADM2 C 0.224 1.04 0.74–1.46 0.81
3 142788703 rs2035935a RASA2 C 0.066 0.84 0.49–1.48 0.56
3 187301576 rs4234589a ETV5 A 0.863 1.05 0.71–1.58 0.78
4 44877284 rs10938397 GNPDA2 G 0.424 0.99 0.75–1.33 0.97
4 77315142 rs17001561a SCARB2 A 0.166 0.90 0.62–1.32 0.60
4 103407732 rs13107325 SLC39A8 T 0.083 1.52 0.93–2.50 0.093
4 145878514 rs11727676 HHIP T 0.902 0.73 0.45–1.19 0.21
5 75050998 rs2112347 POC5 T 0.632 1.14 0.85–1.53 0.39
5 153518086 rs7715256 GALNT10 G 0.431 0.94 0.70–1.27 0.69
6 34671142 rs205262 C6orf106 G 0.291 0.93 0.69–1.26 0.65
6 50944238 rs734597a TFAP2B A 0.168 1.21 0.84–1.75 0.30
6 109084356 rs9400239 FOXO3 C 0.713 1.37 1.00–1.86 0.048
6 120227364 rs9374842 LOC285762 T 0.758 0.83 0.60–1.15 0.26
6 137717234 rs13201877 IFNGR1 G 0.128 0.92 0.62–1.36 0.67
6 162953340 rs13191362 PARK2 A 0.889 0.90 0.60–1.36 0.62
7 75001105 rs1167827 HIP1 G 0.572 1.07 0.81–1.43 0.60
7 95007450 rs6465468 ASB4 T 0.296 0.94 0.70–1.27 0.69
8 76969139 rs17405819 HNF4G T 0.7 1.31 0.98–1.76 0.070
8 81538012 rs16907751 ZBTB10 C 0.888 0.88 0.57–1.33 0.54
8 85242264 rs2033732 RALYL C 0.749 1.10 0.80–1.50 0.56
9 15624326 rs4740619 C9orf93 T 0.544 1.77 1.03–3.04 0.036
9 28404339 rs10968576 LINGO2 G 0.31 0.84 0.62–1.13 0.26
9 110972163 rs6477694 EPB41L4B C 0.341 1.06 0.80–1.40 0.71
9 119418304 rs1928295 TLR4 T 0.548 1.02 0.77–1.35 0.91
9 128500735 rs10733682 LMX1B A 0.49 1.00 0.76–1.33 0.99
10 87400884 rs7899106 GRID1 G 0.052 2.09 1.11–3.99 0.022
10 102385430 rs17094222 HIF1AN C 0.216 0.90 0.65–1.26 0.55
10 104859028 rs11191560 NT5C2 C 0.091 1.10 0.68–1.81 0.70
10 114748339 rs7903146 TCF7L2 C 0.704 1.01 0.75–1.37 0.93
11 8644592 rs7113874a TRIM66 C 0.638 1.03 0.77–1.37 0.84
11 27656701 rs7103411a BDNF T 0.782 0.95 0.67–1.35 0.79
11 43820854 rs2176598 HSD17B12 T 0.264 0.98 0.71–1.35 0.91
11 47607569 rs3817334 MTCH2 T 0.409 1.08 0.82–1.42 0.59
11 114527614 rs12286929 CADM1 G 0.54 0.89 0.68–1.18 0.43
12 48533735 rs7138803 BCDIN3D A 0.388 1.32 1.00–1.76 0.054
12 121347850 rs11057405 CLIP1 G 0.921 0.91 0.55–1.47 0.69
13 26908262 rs1885988a MTIF3 G 0.17 0.86 0.59–1.26 0.44
13 53000207 rs12429545 OLFM4 A 0.132 1.05 0.72–1.54 0.80
13 65103705 rs9540493 MIR548X2 A 0.424 1.15 0.87–1.51 0.32
13 78478920 rs1441264 MIR548A2 A 0.625 0.91 0.69–1.20 0.52
14 24998019 rs10132280 STXBP6 C 0.687 0.99 0.74–1.33 0.96
14 28806589 rs12885454 PRKD1 C 0.666 0.75 0.56–1.00 0.049
14 78969207 rs7141420 NRXN3 T 0.519 0.97 0.73–1.29 0.83
15 49535902 rs3736485 DMXL2 A 0.467 1.24 0.94–1.64 0.13
15 65869870 rs2241420a MAP2K5 G 0.754 0.91 0.66–1.25 0.57
15 70881044 rs7164727 LOC100287559 T 0.684 1.27 0.94–1.71 0.12
16 3567359 rs758747 NLRC3 T 0.288 0.96 0.71–1.30 0.79
16 19842890 rs12446632 GPRC5B G 0.855 1.64 1.10–2.43 0.014
16 28240912 rs2650492 SBK1 A 0.293 1.09 0.82–1.45 0.57
16 28796987 rs3888190 ATP2A1 A 0.377 1.21 0.92–1.60 0.17
16 29922838 rs4787491 INO80E G 0.541 0.99 0.75–1.30 0.93
16 31037396 rs9925964 KAT8 A 0.619 1.03 0.78–1.37 0.81
16 47620091 rs2080454 CBLN1 C 0.356 1.07 0.80–1.42 0.65
16 52358455 rs1421085a FTO C 0.43 1.05 0.79–1.39 0.74
17 1951886 rs9914578 SMG6 G 0.196 0.95 0.68–1.34 0.78
17 5223976 rs1000940 RABEP1 G 0.305 1.38 1.02–1.88 0.037
17 76230166 rs12940622 RPTOR G 0.582 0.98 0.74–1.30 0.88
18 19358886 rs1808579 C18orf8 C 0.545 1.20 0.92–1.57 0.19
18 38401669 rs7239883 LOC284260 G 0.385 1.22 0.92–1.63 0.16
18 55034299 rs7243357 GRP T 0.818 1.02 0.71–1.45 0.92
18 55980115 rs6567160 MC4R C 0.235 1.04 0.76–1.43 0.79
19 18315825 rs17724992 PGPEP1 A 0.736 1.04 0.76–1.42 0.79
19 39001372 rs29941 KCTD15 G 0.701 0.93 0.69–1.26 0.65
19 50087459 rs2075650 TOMM40 A 0.861 1.06 0.72–1.57 0.76
19 50894012 rs2287019 QPCTL C 0.805 1.42 0.99–2.03 0.059
19 52281735 rs2303108a ZC3H4 G 0.695 0.95 0.70–1.30 0.77
20 50521269 rs6091540 ZFP64 C 0.723 0.84 0.62–1.14 0.28
21 39213610 rs2836754 ETS2 C 0.621 1.32 1.00–1.75 0.051

aSNPs rs3127553, rs1514175, rs2972143, rs7622475, rs2035935, rs4234589, rs17001561, rs734597, rs7113874, rs7103411, rs1885988, rs2241420, rs1421085, rs2303108 are in linkage disequilibrium (r2 > 0.8) with published (Locke et al., 2015) SNPs, rs657452, rs12566985, rs2176040, rs13078960, rs16851483, rs1516725, rs17001654, rs2207139, rs4256980, rs11030104, rs12016871, rs16951275, rs1558902, rs3810291, respectively. Gene names are those given in the publication that identified these SNPs (Locke et al., 2015). Association analyses are adjusted for age.