Supplementary Table. Genetic map of non-syndromic aortic aneurysm
Chromosomal
Region
Study
Approach
Disease
Phenotype
Inheritance
Phenotype
Gene
SNP ID (Risk
Allele) for
Associated Allele
OMIM ID
Comments
PMID
1p13.3
GWAS
AAA
SORT1
rs599839(G)
23535823
1q21.3
Candidate
gene study
AAA
IL6R
rs7529229(C)
23111417
2p21-p16.2
DNA linkage
& Whole
exome
sequencing
TAAD
2q13
Candidate
gene study
AAA
3p22
DNA linkage
study
TAAD
3p22
Candidate
gene study
AAA
3q21.1
Sequencing
of candidate
genes
TAAD
3q24
Candidate
gene study
AAA
4q31
DNA linkage
study
AAA
5q13-q14
DNA linkage
study
TAAD
6q25-q26
Candidate
gene study
AAA
MAT2A
AD
IL1RN
rs6743376(C) and
rs1542176(C)
TGFBR2
613780
19542084
rs1036095(G) and
rs764522(G)
MYLK
AGTR1
21855067
AAT7 locus
rs5186(C)
2775049
609782
AAA2 locus
607087
~10-30% of
FTAADs;
AAT2 locus
LPA
25557781
25726324
TGFBR2
AD
AD
Rare form
rs10455872(G) and
rs3798220(C)
22898070
611891
CDKN2BAS1
607087
TGFBR1
9p21
GWAS
AAA
9q22
DNA linkage
study
TAAD
9q33
GWAS
AAA
10q11.2-q21.1
Whole
exome
sequencing
TAAD
AD
615436
PRKG1
AAT8 locus
10q23.31
DNA linkage
study
TAAD
AD
611788
ACTA2
10-14% of
FTAADs;
AAT6 locus;
some patients
have livedo
reticularis and
iris flocculi
11q23.3-q24
DNA linkage
study
TAAD
AD
607086
12p13.1-p12.3
Whole
exome
sequencing
TAAD
616166
MFAP5
12q13.3
GWAS
AAA
614375
LRP1
12q13-q14
DNA linkage
study
TAAD
AD
15q21.1
DNA linkage
study
TAAD
AD
15q21.1
GWAS
TAAD
15q22.33
Whole
exome
sequencing
TAAD
AD
16p13.11
DNA linkage
TAAD with
AD
AD
DAB2IP
rs10757278(G)
AAA3 locus
1% of FTAAD:
AAT5 locus
rs7025486(A)
20622881
Rare form;
AAT1 locus
Rare form;
AAT9 locus
rs1466535(C)
AAA4
21163914
FNB1
Rare form of
FTAAD
20082464
STAAD study
21909107
SMAD3
~2% of
FTAAD
21778426
MYH11
~1% of
FTAADs;AAT4
FNB1
132900
rs2118181(G)
study
PAD
locus
17q23.3
Candidate
gene study
AAA
ACE
rs4646994(deletion)
20302034
19p13.2
GWAS
AAA
LDLR
rs6511720(A)
24046328
19q13
DNA linkage
study
AAA
100070
AAA1 locus
GWAS, genome-wide association study; MIM, Mendelian Inheritance in Man database available at http://omim.org; PMID. PubMed ID for a
publication describing the finding if no MIM record is available; TAAD, thoracic aortic aneurysm and dissection; FTAAD, familial thoracic aortic
aneurysm and dissection; STAAD, sporadic thoracic aortic aneurysm and dissection; AAA, abdominal aortic aneurysm; PDA, patent ductus
arteriosus; AD, autosomal dominant; SORT1, sortilin 1; IL6R, interleukin 6 receptor; IL1RN, interleukin 1 receptor antagonist; MAT2A, methionine
adenosyltransferase II, alpha; MFAP5, microfibrillar associated protein 5; MYLK, myosin light chain kinase; AGTR1, angiotensin I converting
enzyme; CDKN2BAS1, CDKN2B antisense RNA 1; PRKG1, protein kinase, cGMP-dependent, type I; TGFBR1 and 2, transforming growth factor 
(beta) receptors 1 and 2; DAB2IP, DAB2 interacting protein; ACTA2, smooth muscle alpha-actin 2; FNB1, fibrillin 1; SMAD3, SMAD family
member 3; MYH11, smooth muscle myosin heavy chain; ACE, angiotensin converting enzyme; LDLR, low-density lipoprotein receptor; LPA,
lipoprotein, Lp(a); LRP1, low density lipoprotein receptor-related protein 1; . Official approved gene symbols for this table and throughout the paper
were obtained from www.gene.ucl.ac.uk/nomenclature