慢性阻塞性肺疾病全基因组关联研究进展

钱国清

Advances in genome-wide association study of chronic obstructive pulmonary disease

Qian Guoqing

表3 107个参与基因表达、蛋白表达和功能注释的致病基因

Table 3 107 causal genes implicated in gene expression, protein expression and functional annotation

基因 功能相关基因 基因 功能相关基因 DHDDS (3’-UTR) HMGN2 NCOR1 ADORA2B, TTC19 NEXN - ASPSCR1 LRRC45 DENND2D[21] CEPT1, CHI3L2, DRAM2 C18orf8 - C1orf54 MRPS21, RPRD2, ECM1 ZFP82 ZFP14 KRTCAP2 THBS4 MFAP2 - RALGPS2 ANGPTL1 LOC101929516 PABPC4 LMOD1 SHISA4 TGFB2[10,22~25] - ATAD2B UBXN2A TRAF3IP1 ASB1 PKDCC - SLMAP - ITGAV - RSRC1 SPATS2L - GSTCD[10,16,17,19,23] INTS12[16,23] C2orf54 - NPNT[5,10,16,23,26,27] - MIR548G FILIP1L AP3B1 - BCHE - SPATA9[22] RHOBTB3 BTC - P4HA2-AS1 SLC22A5, P4HA2, C1QTNF5 LOC100996325 CEP72 CYFIP2 - RNU6-71P DST ADAM19[10,23,28] - JAZF1 - DSP[10] - MET - MIR588 CENPW IER5L CRAT, PPP2R4 GPR126[10,16,27,29] - DOCK9 - C1GALT1 - CHAC1 INO80, CHP1, RAD51 QSOX2 (3’-UTR) - ATP2A3 - DNLZ SNAPC4, CARD9, INPP5E PITPNM3 KIAA0753, TXNDC17 CDC123[22] NUDT5 TNFSF12-TNFSF13 TNFSF13, SENP3 MYPN - EML3 EEF1G, ROM1 SSH2 EFCAB5 ARHGEF17 FAM168A FBXL20 CRKRS RAB5B CDK2 MAPT-AS1 LRRC37A4, MAPT LRP1[22] - TSEN54 CASKIN2 FGD6 - LTBP4[27] - RPAP1[30] ITPKA, LTK, TYRO3 ABHD12 PYGB AAGAB SMAD3, IQCH UQCC1[30] GDF5 THSD4[10,17,31] - SLC2A4RG LIME1 IL27[10] SBK1, TUFM, CCDC101[10], SULT1A1, SULT1A2, SH2B1, NPIPL1, CLN3, ATXN2L, EIF3C SCARF2 - MMP15