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Table 1 Significant colorectal cancer genes detected by PWAS

From: PWAS: proteome-wide association study—linking genes and phenotypes by functional variation in proteins

Symbol Name Chrom Most significant variant in the region Most significant protein affecting variant Generalized PWAS q value Dominant PWAS q value Dominant PWAS Cohen’s d Recessive PWAS q value Recessive PWAS Cohen’s d Literature evidence
MUTYH mutY DNA glycosylase 1 rs12139364 rs36053993 2.3E−6 (***) 0.34 n.s. 1.2E−4 (***) − 0.079 Strong, biallelic mutations increase colorectal cancer risk by a factor of 17–44 [23]
p = 6.3E−4 p = 1.2E−3
FHL3 Four and a half LIM domains 3 1 rs147339918 rs145496383 0.01 (*) 0.92 n.s. 0.024 (*) − 0.037 Moderate, acts as tumor suppressor in breast and other cancer types [24]
p = 1.5E−3 p = 0.016
OSTC Oligosaccharyltransferase complex non-catalytic subunit 4 rs17038839 rs202168879 0.01 (*) 0.96 n.s. 0.024 (*) 0.026 Weak, subunit of the OST complex which has been associated with lung and ovarian cancer [25, 26]
p = 9.1E−4 p = 0.016
CDK2AP2/DOC-1R Cyclin-dependent kinase 2-associated protein 2 11 rs147242558 rs530762126 0.024 (*) 1 n.s. 7.8E−3 (*) − 5.4E−3 Strong, inhibits CDK2 and G1/S phase transition, a paralog of p14 and CDK2AP1, binds CDK2AP1 [27, 28]
p = 2.7E−3 p = 0.4
POU5F1B/BRN4 POU class 5 homeobox 1B 8 *rs6983267 *rs6998061 0.027 (*) 0.02 (*) 0.09 1 n.s. Strong, promotes proliferation in several cancer types, GWAS hit in colorectal cancer [29,30,31]
p = 5.9E−9 p = 1.4E−7
CCDC172 Coiled-coil domain containing 172 10 rs200485970 rs532636333 0.035 (*) 0.96 n.s. 0.059 n.s. None
p = 1.6E−4 p = 0.055
  1. n.s. non-significant