Table 4 Replications of previous TWAS-identified breast cancer-associated genes in African-ancestry participants at a nominal significant level of P < 0.05 with consistent direction

From: Using genome and transcriptome data from African-ancestry female participants to identify putative breast cancer susceptibility genes

Gene

Current study

Previous TWAS (EUR/ASN)

Z score

P value

Breast cancer subtypea

Modelb

Z Score

P Value

Breast cancer subtypea

ABHD8

2.4

9.0 × 10−3

Overall

Exp-TWAS

4.8

2.1 × 10−6

Overall

ALS2CR12

1.9

2.9 × 10−2

Overall

spTWAS

8.4

5.5 × 10−17

Overall

ATG10

−1.9

2.7 × 10−2

ER-Pos

APA-WAS

−6.7

2.5 × 10−11

Overall

CASP8

−2.4

7.9 × 10−3

Overall

Exp-TWAS

−8.5

2.0 × 10−17

Overall

CMB9-22P13.1

2.2

1.4 × 10−2

ER-Neg

Exp-TWAS

5.6

1.7 × 10−8

Overall

CPNE1

−2.4

9.2 × 10−3

Overall

Exp-TWAS

−4.7

2.9 × 10−6

Overall

GSTM1

−2.0

2.5 × 10−2

Overall

spTWAS

−4.8

1.4 × 10−6

Overall

GTF2IP1

−1.8

3.4 × 10−2

Overall

Exp-TWAS

−4.8

1.3 × 10−6

Overall

GTF2IRD2

1.9

3.1 × 10−2

Overall

Exp-TWAS

5.2

1.8 × 10−7

Overall

HLA-F

1.7

4.2 × 10−2

Overall

APA-WAS

4.8

2.1 × 10−6

Overall

KLHDC7A

−1.7

4.7 × 10−2

Overall

Exp-TWAS

−6.3

2.4 × 10−10

Overall

LINC00886

−1.7

4.2 × 10−2

ER-Neg

Exp-TWAS

−5.0

5.9 × 10−7

Overall

LRRC25

1.9

2.8 × 10−2

Overall

Exp-TWAS

9.5

2.8 × 10−21

Overall

LRRC37A2

−1.8

3.7 × 10−2

ER-Neg

Exp-TWAS

−5.7

1.5 × 10−8

Overall

MAN2C1

−3.3

4.7 × 10−4

Overall

Exp-TWAS

−5.9

2.8 × 10−9

Overall

METTL15P1

−2.4

8.8 × 10−3

ER-Neg

Exp-TWAS

−5.1

2.8 × 10−7

Overall

MLEC

2.1

1.6 × 10−2

ER-Neg

spTWAS

5.6

2.6 × 10−8

Overall

NAGLU

−1.8

4.0 × 10−2

Overall

spTWAS

−5.3

1.3 × 10−7

Overall

NCF1

1.8

4.0 × 10−2

ER-Pos

APA-WAS

4.9

9.4 × 10−7

Overall

PEX14

2.3

1.2 × 10−2

Overall

Exp-TWAS

4.9

1.2 × 10−6

Overall

PLEKHM1

−1.7

4.9 × 10−2

ER-Neg

spTWAS

−5.9

4.1 × 10−9

Overall

PRSS45

−2.0

2.1 × 10−2

ER-Neg

spTWAS

−5.4

6.3 × 10−8

Overall

RCCD1

−2.6

4.7 × 10−3

Overall

Exp-TWAS

−10.9

1.6 × 10−27

Overall

RPS23

2.1

1.6 × 10−2

Overall

Exp-TWAS

6.1

1.4 × 10−9

Overall

SEMA4A

1.7

4.2 × 10−2

TNBC

spTWAS

6.3

4.2 × 10−10

Overall

SEPT14P8

−1.9

2.8 × 10−2

ER-Pos

Exp-TWAS

−6.0

2.0 × 10−9

ER-Neg

SGCE

1.7

4.1 × 10−2

ER-Pos

APA-WAS

5.7

9.3 × 10−9

Overall

STXBP4

1.9

3.1 × 10−2

Overall

spTWAS

10.0

2.2 × 10−23

Overall

THBS3

2.0

2.5 × 10−2

ER-Pos

Exp-TWAS

5.3

1.3 × 10−7

Overall

  1. P values were derived from the Z score tests (one-sided).
  2. aER-Pos estrogen receptor (ER)-positive, ER-Neg ER-negative, TNBC triple-negative breast cancer.
  3. bTWAS transcriptome-wide association study, Exp-TWAS gene expression TWAS, APA-WAS alternative polyadenylation (APA)-wide association study, spTWAS splicing TWAS.