. Author manuscript; available in PMC: 2012 Apr 1.

Published in final edited form as: Ann Vasc Surg. 2010 Dec 13;25(3):388–412. doi: 10.1016/j.avsg.2010.09.004

Table I.

AAA candidate genes investigated by DNA sequencing

Gene	Sequence variant	Number of AAA patients/controls
Gene	Sequence variant	with mutations	without mutations
COL3A1	G619R	1 Family¹⁵
	G136R, T501P	1 Family¹⁶	49 Families¹⁶
	607 C>T	1¹³	39/29¹³
	G+1 IVS20	1 Family¹⁴
FBLN2	1203 G>A, 1295 C>T, 500/502 G>A, 1115 G>A, 1150 A>G, 1229 A>C, 1278 A>G, 1779 C>T, 2574 G>A, 2629 G>A, 2754 C>T, 3408 G>A, 3540 T>C		11/2²⁸
MMP2	IVS1+31 C>G, IVS7−18 G>A, IVS10+26 C>T, 124 G>A, 1368 C>T, 1860 C>T, −1586 C>T, −1070 T>G, −61 G>C, 228 G>A, 678 G>C, 750 C>T, IVS512 C>T, C1149 C>T, 1380 G>A, rs243834, rs11541998, rs10775332		51/48³²
TIMP1	434 C>T	6/0³⁶	64/29 (only males)³⁷
		20/22 (only females)³⁷
	rs4898	50/44³⁸	96/89³⁸
	rs1043428, 328+16 C>T		50/44³⁸
	323 C>T		84/51³⁷
TIMP2	573 G>A	64/29 (only males)³⁷	20/22 (only females)³⁷
	306 C>T		84/51³⁷
	−621 C>T, −596 A>C, rs8179096, −261 G>A, 231+23 C>T, rs2277698		50/41⁴¹
CETP	4 microsatellite loci		82/79⁴²
CETP	Exon 9 nt 170 A>T, Intron 12 nt 312 C>T, Exon 14 nt 16 G>A, Intron 15 nt 151 G>A		85/34⁴³

Gene symbols available from the National Center for Biotechnology Information (NCBI; http://www.ncbi.nlm.nih.gov/) were used.