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. 2022 Jun 30;65(9):1483–1494. doi: 10.1007/s00125-022-05746-x

Table 2.

Cross-trait meta-analysis of type 2 diabetes/glycaemic traits and PCOS

SNP CHR BP A1 A2 EAF Beta_PCOS Beta_trait pPCOS psingle trait pCPASSOC Genes within clumping ranges
T2DM and PCOS
 rs8050136 16 53816275 A C 0.41 0.15 0.12 4.50×10–6 7.60×10–74 1.95×10–85 FTO
 rs9675376 18 57969244 A G 0.3 0.13 0.04 2.40×10–4 3.90×10–9 4.47×10–10
 rs72753599 1 214180519 T C 0.2 –0.14 –0.06 6.00×10–4 1.60×10–12 3.94×10–13 PROX1
 rs10938398 4 45186139 A  G 0.42 0.11 0.04 8.80×10–4 4.90×10–12 1.02×10–12
T2DMadjBMI and PCOS
 rs9930501 16 53830452 A G 0.55 –0.14 –0.05 5.30×10–6 6.00×10–13 6.07×10–15 FTO
 rs1509097a 2 165737931 T C 0.5 –0.13 –0.04 5.20×10–5 5.30×10–7 3.34×10–8 SLC38A11
 rs2238689 19 46178661 T C 0.57 0.11 –0.07 5.40×10–4 1.40×10–21 9.67×10–24 EML2, FBXO46, GIPR, MIR642A, MIR642B, QPCTL, SNRPD2
 rs72753599 1 214180519 T C 0.2 –0.14 –0.07 6.00×10–4 1.60×10–12 6.26×10–14 PROX1
 rs3934729a 3 123019763 T C 0.61 –0.11 0.04 7.40×10–4 1.60×10–7 1.44×10–8 ADCY5, SEC22A
FGadjBMI and PCOS
 rs72753599 1 214180519 T C 0.2 –0.14 –0.01 6.00×10–4 5.06×10–12 1.62×10–12 PROX1
 rs9844212 3 123021870 C G 0.59 –0.11 0.01 6.00×10–4 7.35×10–13 4.41×10–13 ADCY5, SEC22A
 rs6485690 11 46798631 A G 0.34 –0.11 0.01 9.40×10–4 4.60×10–9 1.06×10–10 ARFGAP2, ARHGAP1, ATG13, C11orf49 (CSTPP1), CKAP5, DDB2, F2, LRP4, LRP4-AS1, MIR5582, MIR6745, PACSIN3, SNORD67, ZNF408
FIadjBMI and PCOS
 rs745379a 8 11615695 A G 0.48 –0.12 –0.01 3.40×10–4 8.26×10–6 1.49×10–9 C8orf49 (LINC02905), FDFT1, GATA4, LINC00208, NEIL2
 rs3813583a 16 79755080 A C 0.62 0.12 0.01 4.80×10–4 1.88×10–4 2.64×10–8
 rs4135247a 3 12396588 A G 0.56 –0.11 –0.01 6.00×10–4 1.49×10–6 6.02×10–9 PPARG
HbA1c and PCOS
 rs8047587a 16 53798622 T G 0.45 0.14 0.01 6.80×10–6 1.87×10–5 2.87×10–10 FTO
 rs1265564 12 111708458 A C 0.58 0.13 0.01 1.60×10–4 5.62×10–12 2.91×10–13 ACAD10, ATXN2, BRAP, CUX2, FAM109A (PHETA1), MIR6760, SH2B3
 rs2238689a 19 46178661 T C 0.57 0.11 –0.01 5.40×10–4 1.45×10–6 1.12×10–8 GIPR, MIR642A, MIR642B
 rs4731113 7 123283949 T C 0.97 0.31 0.02 8.00×10–4 4.90×10–8 3.28×10–9 LMOD2, WASL

SNPs with pCPASSOC <5×10–8 and psingle trait <1×10–3 are presented

aNovel SNPs, defined as shared SNPs that are neither driven by a single trait nor in LD with index SNPs identified in single-trait GWASs (LD r2<0.2)

A1, effect allele; A2, alternative allele; Beta, effect allele beta coefficient; BP, physical position of SNP (base pairs); CHR, chromosome; EAF: effect allele frequency; pCPASSOC, p value for cross-phenotype association; pPCOS, p value for PCOS; psingle trait, p value for each individual trait; T2DM, type 2 diabetes mellitus