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

Table 3

Most significant associations with AAA discovered in candidate gene and pathway-based studies.

Gene name (study)	Functional class	Polymorphism	AAA cases; 𝑁	Controls; 𝑁	OR; [95% CI]	Association; 𝑃 value^a
SORT1 [47]^b	Lipid metabolism	rs599839	7,048	75,976	0.81; [0.76–0.85]	7.2×10^−14
IL6R [49]	Inflammation	rs7529229	4,524	15,710	0.84; [0.80–0.89]	2.7×10^−11
LPA [50]	Lipid metabolism	rs10455872 with; rs3798220	4,572	33,520	1.23; [1.11–1.36]	6.0×10^−5
AGTR1 [51]^b	Renin-angiotensin system	rs5186	1,226	1,723	1.60; [1.32–1.93]	1.1×10^−6
TGFBR2 [52]^b	TGFB signaling	rs1036095	1,904	2,616	1.59; [1.23–2.07]	4.8×10^−4
TGFBR2 [52]^b	TGFB signaling	rs764522	1,904	2,616	1.69; [1.28–2.25]	2.7×10^−4
ACE [53]^b	Renin-angiotensin system	rs4646994	1,415	1,677	1.35; [1.17–1.56]	<0.0001
MMP3 [54]^b	Degradation of ECM	rs3025058	1,258	1,406	1.48; [1.23–1.78]	3.95×10^−5
MMP13 [55]^b	Degradation of ECM	rs2252070	800	843	1.37; [1.04–1.82]	NA
MTHFD1 [56]	Methionine metabolism	rs8003379	423	423	0.41; [0.26–0.65]	<0.0001
MTRR [56]	Methionine metabolism	rs326118	423	423	0.47; [0.29–0.77]	0.003
LRP5 [57]	Lipid metabolism	rs3781590; rs4988300	423	423	2.16; [1.41–3.29]	<0.0001

OR: odds ratio; 95% CI: 95% confidence interval; ECM: extracellular matrix; TGFB: transforming growth factor beta; NA: not available. Gene symbols are available from http://www.ncbi.nlm.nih.gov/gene/.
^a𝑃-values were taken from either a meta-analysis or the largest report demonstrating association with AAA and cited in the first column.
bMeta-analysis.
Modified from [4].