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

Table 3.

Significant genes shared between type 2 diabetes/glycaemic traits and PCOS identified from the TWAS using gene expression across 48 GTEx tissues

Trait pair CHR Gene Trait PCOS
BEST.GWAS.ID Tissue TWAS.Z FDR BEST.GWAS.ID Tissue TWAS.Z FDR
T2DM and PCOS 11 ARL14EP rs4922556 Adipose subcutaneous, adrenal gland, artery aorta, artery coronary, artery tibial, brain caudate basal ganglia, brain cerebellum, breast mammary tissue, colon sigmoid, colon transverse, oesophagus gastroesophageal junction, oesophagus mucosa, oesophagus muscularis, heart atrial appendage, heart left ventricle, lung, nerve tibial, ovary, pituitary, skin not sun exposed suprapubic, skin sun exposed lower leg, stomach, thyroid, vagina –2.83 to –3.89 4.84×10−2 to 2.73×10−3 rs10835649 Artery aorta, artery tibial, thyroid 4.36 to 5.24 1.49×10−3 to 4.99×10−2
T2DMadjBMI and PCOS 11 ARL14EP rs4922556 Artery aorta, thyroid –3.16 to –3.14 3.52×10−2 to 3.71×10−2 rs10835649 Artery aorta, artery tibial, thyroid 4.36 to 5.24 1.49×10−3 to 4.99×10−2
18 SERPINB8 rs4508511 Nerve tibial, stomach 3.08 to 3.53 1.12×10−2 to 4.55×10−2 rs2162352 Stomach –4.17 4.48×10−2

BEST.GWAS.ID, rsID of the most significant GWAS SNP in locus; CHR, chromosome; T2DM, type 2 diabetes mellitus; TWAS.Z, TWAS Z-score