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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
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BMC Medicine

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