Table 3 Rare variant-based gene-centric analysis identified lung cancer-associated genes that were replicated across different annotation categories in the replication stage and in the WES-based UK Biobank dataset)

From: Non-coding genetic elements of lung cancer identified using whole genome sequencing in 13,722 Chinese

Gene Name

Chr

Start

End

Discovery Category

Discovery P-valuea

Replication Category

Replication P-valuea

UKB Category

UKB P-valueb

Fisher P-valuec

LRRFIP2

3

37052626

37183689

Promoter

7.72 × 10−05

Missense

4.47 × 10−02

Missense

7.19 × 10−03

4.26 × 10−06

LRRFIP2

3

37052626

37183689

Promoter

7.72 × 10−05

Enhancer

3.82 × 10−02

Missense

7.19 × 10−03

3.71 × 10−06

MRPL49

11

65122183

65127371

Promoter

2.18 × 10−04

Enhancer

8.29 × 10−04

Syn

4.44 × 10−02

1.55 × 10−06

PARPBP

12

102120185

102197520

Promoter

4.11 × 10−05

UTR

4.93 × 10−02

Plof

7.07 × 10−03

2.61 × 10−06

PLA2G4C

19

48047843

48110817

Promoter

5.67 × 10−05

UTR

1.24 × 10−02

Synonymous

4.43 × 10−02

5.22 × 10−06

SLC35B4

7

134289332

134316930

Promoter

1.26 × 10−04

Downstream

2.43 × 10−02

Missense

4.35 × 10−02

1.89 × 10−05

SLC35B4

7

134289332

134316930

Enhancer

5.01 × 10−05

Downstream

2.43 × 10−02

Missense

4.35 × 10−02

8.37 × 10−06

UNC13A

19

17601328

17688365

UTR

6.12 × 10−05

Enhancer

2.14 × 10−03

Flexdmg

5.76 × 10−04

2.23 × 10−08

  1. Build: GRCh 38. Here, we considered DHS-derived and CAGE-derived promoter/enhancer annotation as the same category.
  2. aSTAAR-O test
  3. bSKAT-O/burden test
  4. cFisher’s test