Table 3

The top ten most significant markers from the first and second stages of the aortic root diameter genome-wide association study.

Stage 1

Stage 2

Chromosome

Base pair

Marker

MAF

p-value

SNP effect*

p-value

Gene(s)


3

59,877,841

rs1825630

0.444

3.70 × 10-5

9.46 (2.11)

7.99 × 10-6

FHIT

7

65,255,030

rs875971

0.324

3.99 × 10-5

10.69 (2.24)

4.09 × 10-6

CRCP

7

65,668,047

rs801193

0.337

3.97 × 10-5

11.13 (2.23)

3.65 × 10-6

LOC401365, LOC493754

7

65,700,370

rs10258739

0.318

2.11 × 10-5

10.64 (2.26)

2.50 × 10-6

7

65,733,463

AFFX 9317457

0.332

6.24 × 10-6

11.25 (2.23)

6.20 × 10-7

KCTD7, RABGEF1

7

65,733,463

rs10263935

0.324

9.06 × 10-6

11.42 (2.28)

4.26 × 10-7

KCTD7, RABGEF1

7

65,790,536

rs2659915

0.334

4.10 × 10-5

10.84 (2.22)

4.27 × 10-6

RABGEF1

8

117,625,451

rs4876662

0.195

2.70 × 10-5

13.17 (2.58)

2.23 × 10-6

16

57,316,833

rs12600277

0.162

2.84 × 10-5

13.99 (2.98)

2.72 × 10-6

GOT2

20

1,888,504

rs6045666

0.351

3.21 × 10-5

12.58 (2.26)

2.97 × 10-6

SIRPA, PDYN

20

1,889,171

rs6045676

0.356

5.31 × 10-7

11.47 (2.28)

3.28 × 10-8

SIRPA, PDYN


The markers at rs6045676 and rs10263935 reach the threshold for genome-wide significance (p < 5 × 10-7). The last column lists known genes and proteins of unknown function within 10 kb of the identified marker.

* The regression coefficients (10-2 scale) for the SNP effect in equation {2} and its standard error (in parentheses) are included. Meanwhile, CNV effects are excluded due to the low observed CNV frequency at each marker (<1%).

† These genes are outside the 10 kb restriction, yet still included.

Wineinger et al. BMC Medical Genomics 2011 4:4   doi:10.1186/1755-8794-4-4

Open Data