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Table 2 Main mapped genes differentially expressed in PTB, infant disease, and breast cancer

From: Ultra-low-coverage genome-wide association study—insights into gestational age using 17,844 embryo samples with preimplantation genetic testing

Genes mapped to risk loci

Overlapped no. with the reported

PTB datasets

No. of DEGs detected in gene expression data

Maternal PTB

Infant PTB

Infant BPD

Infant sepsis

Breast cancer ER, PR

Breast cancer TNBC

Breast cancer HER2+

ICAM1

6

1(up)

2(up)

1(up)

1(up)

1(up),2(down)

2(up)

1(up)

CRHBP

5

2(up)

1(up)

1(up)

    

OXTR

5

2(up)

   

1(up)

1(down)

 

THBS4

3

1(down)

1(down)

 

1(up)

1(up)

2(down)

1(up),1(down)

EGR2

2

1(up)

1(up)

1(up)

 

1(up)

2(down)

2(down)

CNTLN

1

1(up)

1(up),1(down)

 

1(up)

1(down)

 

1(down)

MBL2

4

 

1(up)

     

EMR1

2

  

1(up)

    

PLAGL1

1

1(up)

2(up)

 

1(up)

2(down)

2(down)

2(down)

DKK1

 

2(up)

1(up)

1(down)

 

2(down)

3(up),1(down)

1(up),1(down)

GCNT4

 

1(down)

2(down)

1(down)

2(down)

1(up),2(down)

1(down)

1(down)

DNMT1

 

1(up)

1(up)

   

1(up)

1(up)

PIN1

 

1(down)

1(down)

     
  1. PTB-related genes identified in our GWAS were compared with DEGs identified in published gene expression datasets (Additional file 1: Table S9). “up” and “down” indicate differentially overexpressed and underexpressed gene, respectively