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. 2021 Feb 6;13:19. doi: 10.1186/s13073-021-00827-9

Table 2.

Overview of blood and skin SMR analyses detailing tissue-specific and common BCC susceptibility genes

Tissue Number of SMR genes Sample size Number of probes tested P value threshold of multiple correction
 Blood (eQTLGen) 46 31,684 15,652 3.19E−06
 Skin_Sun_Exposed (GTEx) 25 243 6557 7.63E−06
 Skin_Not_Sun_Exposed (GTEx) 21 216 5252 9.52E−06
 Whole_Blood (GTEx) 20 360 4459 1.12E−05
 Overall number of unique elements 63 / / /
Tissue Number of overlapping genes Gene name

 Blood (eQTLGen)

 Skin_Not_Sun_Exposed (GTEx)

 Skin_Sun_Exposed (GTEx)

 Whole_Blood (GTEx)

7 SPIRE2, CDK10, HLA-DRB1, HLA-DQA2, AL133458.1, RNASET2, CASP8

 Blood (eQTLGen)

 Skin_Not_Sun_Exposed (GTEx)

 Skin_Sun_Exposed (GTEx)

1 ALS2CR12

 Blood (eQTLGen)

 Skin_Sun_Exposed (GTEx)

 Whole_Blood (GTEx)

1 SPATA2L

 Skin_Not_Sun_Exposed (GTEx)

 Skin_Sun_Exposed (GTEx)

 Whole_Blood (GTEx)

2 HLA-DOB, HLA-DRB6

 Blood (eQTLGen)

 Skin_Sun_Exposed (GTEx)

3 CLPTM1L, RP11-104N10.1, ALKBH5

 Blood (eQTLGen)

 Skin_Not_Sun_Exposed (GTEx)

3 SMC2, TGM3, NCOA6

 Blood (eQTLGen)

 Whole_Blood (GTEx)

7 RCC2, SPG7, PADI6, SPATA33, MAP1LC3A, CDKN2B, AP003774.1

 Skin_Not_Sun_Exposed (GTEx)

 Skin_Sun_Exposed (GTEx)

7 DBNDD1, TCF19, ASIP, PSORS1C3, HLA-DQA1, KRT6C, POU5F1
Tissue Number of unique genes Gene name
 Blood (eQTLGen) 24 VDR, RP1-167A14.2, GGT7, IRF4, EIF2S2, TAP2, TRPC4AP, BNC2, AC007256.5, RP11-875O11.1, GAS8, RPS6KA2, ZNF276, CCR6, PES1, BACH2, CASP10, TP53, TP53INP2, CTLA4, AC137932.6, CHMP4B, STRADB, TICAM1
 Skin_Sun_Exposed (GTEx) 4 FANCA, SEMA6C, CTSS, URAHP
 Skin_Not_Sun_Exposed (GTEx) 1 FGFR1OP
 Whole_Blood (GTEx) 3 CHMP1A, HLA-DRB9, SPAG1

Table revealing the number of SMR genes, sample size, number of probes tested, and multiple correction threshold in each tissue and the SMR genes unique to each tissue-gene dataset and list of SMR genes common among datasets. In the eQTLGen dataset, the gene name SPATA33 is aliased as C16orf55. To ease gene comparison analyses, C16orf55 was changed to SPATA33 in the eQTLGen results