Update on Abdominal Aortic Aneurysm Research: From Clinical to Genetic Studies

Table 2

AAA genetic loci discovered using genome-wide association studies.

Chromosomal location (study)	Nearest gene; (gene symbol; gene ID)	Polymorphism	RAF	OR; [95% CI]	Association; 𝑃 value^a
3p12.3 [42]	Contactin-3; (CNTN3; 5067)	rs7635818	0.42	1.33; [1.10–1.21]	0.0028
9p21.3 [44]	CDKN2B antisense RNA 1; (CDKN2BAS1; 100048912)	rs10757278	0.45	1.31; [1.22–1.42]	1.2×10^−12
9q33.1 [43]	DAB2 interacting protein; (DAB2IP; 153090)	rs7025486	0.25	1.21; [1.14–1.28]	4.6×10^−10
12q13.3 [45]	Low density lipoprotein receptor-related protein 1; (LRP1; 4035)	rs1466535	0.68	1.15; [1.10–1.21]	4.5×10^−10
19p13.2 [41]	Low density lipoprotein receptor (LDLR; 3949)	rs6511720	0.88	0.76; [0.70–0.83]	2.1×10^−10

RAF: risk allele frequency in population; OR: odds ratio; 95% CI: 95% confidence interval; rs number: unique identifier for each single nucleotide polymorphism (for more information, see http://www.ncbi.nlm.nih.gov/snp/).
Gene symbols and IDs are available from http://www.ncbi.nlm.nih.gov/gene/.
^a𝑃 values were taken from the first report demonstrating association with AAA and cited in the first column.
Modified from [4].