Table 1

Functional positional candidate genes studied by genetic association

Symbol

GO Category

KEGG Pathway

SNP (N)

AAA Exp

Cont Exp

Diff Score1


PEPD

NA

NA

25

1300

957

10.52

CEBPG

immune response; others

NA

2

222

252

-3.27

CEBPA

myeloid cell differentiation

NA

16

630

118

31.322

GPI

humoral immune response

NA

5

1136

759

11.57

HAMP

immune response; others

NA

1

136

ND

13.57

CD22

immune response; others

B-cell receptor signaling pathway

4

578

ND

16.17

NFKBID

inflammatory response

NA

1

22.4

ND

23.802

TYROBP

cellular defense response

natural killer cell mediated cytotoxicity

1

4973

801

41.152

HCST

NA

natural killer cell mediated cytotoxicity

0

736

148

33.442


Nine genes were identified within the AAA linkage intervals on chromosome 19 (AAA1 locus) with annotated GO or KEGG functions relevant to AAA. mRNA expression levels for each gene in both AAA and control abdominal aortic tissue, as well as a score indicating the differences in expression levels (Diff score), were obtained from our previously published work, details of which can be found in [30] and the microarray data can be obtained at the Gene Expression Omnibus (GEO) database (Series# GSE7084; http://www.ncbi.nlm.nih.gov/geo/ webcite).

1The Diff Score is generated using a custom algorithm from Illumina. A Diff Score of 13 corresponds to an approximate p value of 0.05.

2Significantly different between AAA and control tissues after correction for multiple testing (FDR <0.05).

Chr, chromosome; NA, not applicable; ND, not detected; Exp, Expression; Cont, Control

Lillvis et al. BMC Medical Genetics 2011 12:14   doi:10.1186/1471-2350-12-14

Open Data