Table 2 Fourteen novel loci reaching genome-wide significance in two-stage GWAS of BCC.

From: Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma

SNP

Region

Gene

Maj/min

MAF (avg imp r2)

P

OR

P

OR

P

OR

rs2116709

3p13

FOXP1

A/T

0.40 (0.91)

7.9 × 10−15

0.89

6.1 × 10−4

0.91

2.3 × 10−17

0.90

rs10810657

9p22.2

BNC2

A/T

0.41 (0.98)

5.1 × 10−14

0.90

5.7 × 10−5

0.90

1.5 × 10−17

0.90

rs191177147

3q28

LPP

G/T

0.39 (0.80)

3.2 × 10−12

1.11

1.0 × 10−3

1.10

1.2 × 10−14

1.11

rs9275642

6p21.32

HLA-DQA2

C/T

0.21 (0.89)

1.2 × 10−11

0.89

2.7 × 10−2*

0.81

2.4 × 10−12

0.89

rs73183643

7q22.1

CUX1

G/A

0.24 (0.96)

8.5 × 10−11

0.90

2.3 × 10−4

0.89

1.5 × 10−13

0.90

rs11993814

8q21.13

ZBTB10

C/T

0.26 (1.0)

2.8 × 10−10

0.91

4.5 × 10−2

0.94

8.8 × 10−11

0.92

rs2776353

21q22.3

LINC00111

A/T

0.33 (0.96)

5.0 × 10−10

0.91

7.7 × 10−4

0.91

1.6 × 10−12

0.91

rs10425559

19p13.3

PLIN3

G/A

0.40 (0.97)

3.8 × 10−9

0.92

8.4 × 10−1

0.99

2.8 × 10−8

0.93

rs1050529

6p21.33

HLA-B

C/T

0.25 (0.71)

4.6 × 10−9

0.90

2.7 × 10−1

0.89

2.6 × 10−9

0.90

rs7776701

7p12.3

TNS3

C/T

0.48 (0.98)

5.3 × 10−9

0.93

5.1 × 10−1

0.98

4.2 × 10−8

0.94

rs9267650

6p21.3

NEU1

A/T

0.05 (0.98)

2.4 × 10−8

1.18

2.0 × 10−1

1.09

1.1 × 10−8

1.17

rs7907606

10q24.3

OBFC1

T/G

0.17 (0.96)

7.4 × 10−8

1.10

2.4 × 10−2

1.08

4.7 × 10−9

1.10

rs4710154

6q27

MIR3939

A/T

0.32 (0.93)

8.1 × 10−8

1.08

4.3 × 10−2

1.06

1.1 × 10−8

1.08

rs2294214

6p22.3

CASC15

A/C

0.32 (0.95)

2.6 × 10−5

1.06

5.9 × 10−5

1.13

3.1 × 10−8

1.07

  1. SNPs that met genome-wide significance (P<5 × 10−8, via logistic regression) in overall meta-analysis are listed; these SNPs have not been associated with BCC in previous GWAS reports. Additionally, we report genetic locus, nearest genes, major allele, minor allele, minor allele frequency (MAF) as calculated from stage 1 data, average imputation r2 (a measure of imputation quality) for stage 1, and odds ratio (OR) with P-value for each stage, calculated with respect to the minor allele. In stage 1, we analysed 12,945 BCC cases and 274,252 controls. Stage 2 included 4242 BCC cases and 12,802 controls from NHS. We then combined data from stage 1 and stage 2 (which resulted in 17,187 BCC cases and 287,054 controls) and performed fixed-effect meta-analysis. Statistics for effect heterogeneity (Phet and I2) are included in Supplementary Table 13. All subjects were from the US and of European ancestry.
  2. *Genotyping results in stage 2.
  3. Genotyping results in stage 2. rs9266772 is used as proxy SNP for rs1050529 (r2=0.569, D′=0.771).