Skip to main content

Table 1 Regions and genes associated with lung cancer and/or chronic obstructive pulmonary disease

From: Bridging the clinical gaps: genetic, epigenetic and transcriptomic biomarkers for the early detection of lung cancer in the post-National Lung Screening Trial era

Reference

Gene

Chromosome region

Population size

Platform

[9]

CHRNA5, CHRNA3 and CHRNB4, HTERT,

15q24-25.1

Discovery 1,154 Cases 1,137

Illumina Hapmap 300

CLPTM1L

5p15.33

Replication two sets- Texas 711/632 and UK 2,013/3,062 Caucasian

[10]

CHRNA5, CHRNA3 and CHRNB4

15q24-25.1

Discovery 1,989/2,513/4,752 Caucasian

Illumina Hapmap 300

HTERT, CLPTM1L

5p15.33

HLA region

6p21

[11]

CHRNA5, CHRNA3 and CHRNB4

15q24-25.1

1,024/32,244 Caucasian

Illumina (Human Hap300 and Human Hap300-duo + Bead Arrays, Illumina)

[12]

CHRNA5, CHRNA3 and CHRNB4

15q25,

5,739/5,848; Meta-analysis 7,561/13,818 Caucasian

550 K, 610QUAD4, 317 K + 540S

5p15, and 6p21

HTERT, CLPTM1L

HLA region

[32]

RAD52

12p13.33

5,355/4,344 replication 3,359 squamous cell /9,100 Caucasian

Variety of platforms 550, 300, Infinium AB7900 7,700/5,914

[13]

CHRNA5, CHRNA3 and CHRNB4

15q25

7,700/5,914 Caucasian

PCR 7,700/5,914

[19]

CHRNA5, CHRNA3 and CHRNB4

15q25

11,645/14,954 Caucasian and Asian

Illumina Omni1-Quad and OmniExpress chips

HTERT, CLPTM1L

5p15

[27]

CHRNA5, CHRNA3 and CHRNB4

15q25

1,094/1,100 Korean

PCR 1,094/1,100

HTERT, CLPTM1L

5p15

[29]

TP63

3q285

Discovery 2,331/3,077 Replication 6,313/6,409 Chinese

--

TERT-CLPTM1L

p15.33

MIPEP-TNFRSF19

13q12.12

MTMR3-HORMAD2-LIF

22q12.2

[30]

GATA3

10p14

Discovery 2,331/3,077 Validation 7,436/7,483 Chinese

Affymetrix SNP Array 6.0 TaqMan, iPLEX Sequenom MassARRAY

CYP24A1

20q13.2

PPP2R2B-STK32A-DPYSL3

5q32

IL3-CSF2-P4HA2

5q31.1

AJAP1-NPHP4

1p36.32

[31]

LRFN2

6p21.17p15.3

Discovery 2,331/4,006 Replication 2,665/11,436

Affymetrix SNP Array 6.0 chips

SP4 and DNAH11