Table 3.

Lung cancer susceptibility loci derived from GWAS, genetic risk specificity by subgroups, and suspected causal genes

GWAS lociHistologySmokingGenderEthnicityAge of onset>1 lociSuspected causal genes
1p36.32 (29)smaAJAP1 (87), NPHP4 (88)
1p31.1 (25)eFUBP, DNAJB4
1q22 (56)SQMUC1 (89, 90), ADAM15 (91), THBS3
2p16.3 (39)ADnwaNRXN1 (92)
2q32 (22)SQeNUP35 (93)
2q32.2 (52)ADsmaHIBCH, INPP1 (94), PMS1, STAT1
3p26 (44)eNo genes. Deletions associated with cancer (95, 96)
3q28 (23, 25, 27, 28, 32, 36)ADwTP63 (97, 98)
3q29 (26)aC3orf21 (26)
4p15.2 (45, 46)SQeKCNIP4 (99)
5p15 (18–22, 25–28, 32, 35, 36, 55)ADnwTERT (100–105), CLPTM1L (106–110)
5q14.2 (42)eXRCC4 (111)
5q31 (29)aoPAHA2 (112), CSF2 (113), IL3 (113), SLC22A5 (29, 114), ACSL6 (115)
5q32 (29)ADnwaSTK32A (29), PPP2R2B (116, 117), DPYSL3 (118)
6p22.2 (31)aHIST1H1E
6p21 (18, 20–22, 25, 31, 32, 36, 37, 42, 54)SQeBAG6 (119, 120), APOM (121, 122), TNXB (123), MSH5 (124), BTNL2, PRRC2A (BAT2), FKBPL (125, 126), HSPA1B (127), FOXP4, FOXP4-AS1, GTF2H4 (42), LRFN2, HLA-A (128), HLA-DQB1 (128)
6q22 (36)ADnwaDCBLD1 (129, 130), ROS1 (131–133)
6q27 (25)eRNASET2
7p15.3 (54)aSP4, DNAH11
8p21.1 (25)eEPHX2, CHRNA2
8p12 (25)ADeNRG1 (134)
9p21.3 (22, 25, 37, 56)CDKN2A (135), CDKN2B (135), CDKN2B-AS1 (136, 137), MTAP
10p14 (29)aGATA3 (138–141)
10q23.33 (45)nweyFFAR4 (142)
10q24.3 (25)ADeOBFC1
10q25.2 (36)SQwaVTI1A (143–145)
11q23.3 (25)ADeMPZL3, AMICA1
12p13.33 (22, 25, 40)SQeRAD52 (40, 146–151)
12q13.13 (37, 41)nwACVR1B (152, 153), NR4A1
12q23.1 (30)SQaNR1H4 (154), SLC17A8 (155, 156)
12q24 (55)eSH2B3
13q12.12 (28)ayMIPEP, TNFRSF19 (157)
13q13.1 (23, 25, 56)SQeBRCA2 (158)
13q31.3 (34)neGPC5 (159, 160)
15q21.1 (25)ADeSEMA6D, SECISBP2L (161)
15q25 (14–22, 25, 44)seCHRNA5, CHRNA3, CHRNB4, IREB2, PSMA4 (162), HYKK
17q24.3 (32, 36)aBPTF (32, 163, 164)
18p11.22 (38)naFAM38B (165), APCDD1 (166, 167), NAPG
18q12.1 (46)ADeGAREM (168)
19q13.2 (25, 44)eTGFB1 (169), CYP2A6
20q11.21 (31)aBPIFB1 (170)
20q13.2 (29)ADaCYP24A1 (171–174)
20q13.33 (25)ADeRTEL1 (175)
22q12.1 (23, 25)SQeCHEK2 (24, 176)
22q12.2 (28)aLIF (177, 178), HORMAD2, MTMR3
  • NOTE: The color of the background illustrates the strength of evidence on a black-and-white scale, where black indicates convincing evidence and white indicates no evidence so far. The strength of evidence was assigned on the basis of the content of publications cited in the first column and our best possible judgment and comprehension of each locus considering the number of studies that replicated the associations, the level of statistically significance, and the quality of the studies, for example, sample size. No evidence (white) does not delineate the lack of associations that have been studied from those not yet examined and also highlights knowledge gaps.

  • Abbreviations: AD, adenocarcinoma; a, Asians; e, Europeans; m, men; n, never-smokers; o, older; s, smokers; SQ, squamous cell carcinoma; w, women; y, younger.