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Pathway Analysis of GWS genes in PCOS
(Dunaif, JCEM 2016; Azziz et al., Nature Reviews 2016; Pau et al., PLOS ONE, 2017)
FSHB, FHSR and LHR loci may influence PCOS risk based on their relationship to gonadotropin levels.
The THADA, GATA4, ERBB4, SUMO1P1, KRR1 and RAB5B loci appear to confer risk through metabolic mechanisms.
The IRF1, SUMO1P1 and KRR1 loci may confer PCOS risk in development.
The TOX3 and GATA4 loci appear to be involved in inflammation and its consequences.
GWAS Genes and PCOS Features
(Tugce & Meun et al., Unpublished data 2018)
Chr:Position SNP Gene Ref. allele Other Hyperandrogenism PCOM OD
allele
2:213391766
2:43561780
5:131813204
8:11623889
9:126619233
9:5440589
9:97723266
11:102043240
11:113949232
12:75941042
16:52375777 20:31420757
rs2178575
rs7563201
rs13164856
rs804279
rs9696009
rs10739076
rs7864171
rs11225154
rs1784692
rs1795379
rs8043701 rs853854
ERRB4* G
THADA*† G
IRF1 / T RAD50*
C8orf49* A
DENND1A† G
PLGRKT A
C9orf3*† G
YAP1*† G
ZBTB16 T
KRR1* T
TOX3† A MAPRE1 T
A 0.83
A 0.56
C 0.73
T 0.27
A 0.94
C 0.30
A 0.60
A 0.91
C 0.85
C 0.24
T 0.82 A 0.50
-0.126
0.061
0.092
0.126
-0.330
0.026
0.124
-0.144
0.146
-0.104
-0.166 0.111
4.3E-03 -0.241
8.0E-02 0.16
1.8E-02 0.16
8.7E-04 0.22
2.9E-07 -0.32
5.3E-01 0.10
3.8E-04 0.19
1.4E-02 -0.24
4.6E-03 0.30
8.0E-02 -0.16
1.4E-04 -0.17 9.8E-04 0.10
1.4E-05 -0.23
3.7E-04 0.08
1.4E-03 0.08
1.5E-06 0.16
4.0E-05 -0.36
5.9E-02 0.00
1.3E-05 0.10
3.5E-04 -0.23
2.8E-06 0.21
1.5E-03 -0.11
1.5E-03 -0.08 2.1E-02 0.05
1.2E-11
1.5E-03
5.6E-03
9.9E-09
4.4E-15
8.9E-01
2.3E-04
5.7E-08
6.6E-09
1.8E-04
9.2E-03 3.8E-02
EAF Beta P-value Beta P-value Beta P-value
11:30226356 rs11031005 ARL14EP /T C 0.85 -0.079 8.2E-02 -0.18 1.3E-03 -0.13 2.8E-04 FSHB*
12:56477694 rs2271194 ERRB3 /A T 0.42 0.126 2.7E-04 0.17 7.9E-05 0.13 1.4E-06 RAB5B†
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PRECONGRESS COURSE 07 I BARCELONA, SPAIN – 1 JULY 2018 43
