Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci

Breast Cancer Research

Table 3 Genes with significant association between genetically predicted gene expression and MD phenotypes (DA, NDA, PMD), based on transcriptome-wide association study (TWAS)¹

MD phenotype	Gene	CHR	Gene start position²	Gene end position²	Gene expression heritability	TWAS Z score	TWAS p value
DA	MTMR11	1	149,928,651	149,936,867	0.117	6.556	5.53 E−11
DA	EP300	22	41,091,786	41,180,079	0.059	5.074	3.89 E−07
DA	MRPL23-AS1	11	1,983,237	1,989,920	0.158	− 5.057	4.26 E−07
DA	SMIM25	20	50,267,486	50,279,795	0.198	− 4.893	9.92 E−07
DA	TMEM184B	22	38,219,291	38,273,034	0.112	4.864	1.15 E−06
DA	DESI1	22	41,598,028	41,621,096	0.139	4.779	1.76 E−06
NDA	SHOX2	3	158,096,011	158,106,503	0.155	5.027	4.98 E−07
PMD	MTMR11	1	149,928,651	149,936,867	0.117	5.517	3.45 E−08
PMD	CRISPLD2	16	84,819,984	84,920,768	0.177	− 4.832	1.35 E−06

ISSN: 1465-542X