Aneurysm

An aneurysm is a localized ballooning in an artery due to a weak portion of the vessel wall. A ruptured aneurysm can cause hemorrhaging that is severely debilitating or fatal. The two most medically significant aneuryms occur at the base of the brain (intracranial aneurysms) and in the artery coming out of the heart (aortic aneurysms) Wikipedia. The most common type of aortic aneurysm is abdominal aortic aneurysm (AAA). Wikipedia

In 2014, a study found novel region on chromosome 7, near HDAC9, was associated with IA (rs10230207; P=4.14×10−8). See Stroke Journal 2014;45:3194-3199

In 2013, a meta-analysis confirmed 4 loci with robust association after random effects / sensitivity analysis. rs700651, rs9298506, rs10958409 and rs1333040. PMC3716358

As of 2010, at least 6 gene regions are known to be associated with increased risk for intracranial aneurysms in multiple ethnic groups, usually with multiple SNPs per region. [PMID 20364137], 23andMe blog

Reported and mapped genes and SNPs

• 1p13.3, reported and mapped genes CELSR2, PSRC1, SORT1
  • rs602633 Abdominal aortic aneurysm
• 1p22.3, reported and mapped gene COL24A1
  • rs1842579 Coronary artery aneurysm in Kawasaki disease
• 1p35.1, reported and mapped gene CSMD2
  • rs12023377 Coronary artery aneurysm in Kawasaki disease
• 1p36.21, reported and mapped gene FHAD1
  • rs10127456 Coronary artery aneurysm in Kawasaki disease
• 1q21.3, reported and mapped gene IL6R
  • rs12133641 Abdominal aortic aneurysm
• 1q32.3, reported and mapped genes SMYD2, LOC105372911
  • rs1795061 Abdominal aortic aneurysm
• 2p24.1, reported and mapped genes C2orf43, GDF7
  • rs13382862 Abdominal aortic aneurysm
• 2q31.1, reported and mapped gene MYO3B
  • rs10185178 Coronary artery aneurysm in Kawasaki disease
• 2q33.1, reported and mapped genes ANKRD44, BOLL, PLCL1
  • rs700651 Intracranial aneurysm
  • rs919433 Intracranial, abdominal aortic or thoracic aortic aneurysm (pleiotropy)
• 3q22.1, reported and mapped genes CPNE4, LOC105374113
  • rs16837858 Coronary artery aneurysm in Kawasaki disease
• 4q31.22, reported and mapped genes EDNRA, PRMT5P1
  • rs6842241 Intracranial aneurysm
• 5q22.3, reported and mapped genes KCNN2, LOC101927078
• 6p21.2, reported and mapped gene MDGA1
  • rs12210919 Coronary artery aneurysm in Kawasaki disease
• 7p21.1, reported and mapped genes HDAC9, MIR3146, TMEM196, LOC105375179, LOC10537518, TWISTNB
  • rs7798197 Intracranial aneurysm
  • rs10230207 Intracranial aneurysm
  • rs12669789 Intracranial aneurysm
• 8p23.2, reproted and mapped gene CSMD1
  • rs17349258 Coronary artery aneurysm in Kawasaki disease
• 8q11.23-q12.1, reported and mapped genes SOX17, LOC105375840, RN7SL250P
  • rs1504749 Intracranial aneurysm
  • rs9298506 Intracranial aneurysm
  • rs10958409 Intracranial aneurysm
• 9p21.3, reported and mapped genes CDKN2A, CDKN2B, ANRIL
  • rs1333040 Intracranial aneurysm
  • rs2383207 Abdominal aortic aneurysm
  • rs6475606 Intracranial aneurysm
  • rs7866503 Intracranial, abdominal aortic or thoracic aortic aneurysm (pleiotropy)
  • rs10733376 Intracranial aneurysm
  • rs10757274 Abdominal aortic aneurysm
  • rs10757272 Intracranial aneurysm
• 9q31.1, reported and mapped gene GRIN3A
  • rs7849782 Coronary artery aneurysm in Kawasaki disease
• 9q32, reported and mapped gene ZNF618
  • rs11793049 Coronary artery aneurysm in Kawasaki disease
• 9q33.2, reported and mapped genes DAB2IP
  • rs7025486 Abdominal aortic aneurysm
  • rs10985349 Abdominal aortic aneurysm
• 10p12.31, reported and mapped genes NEBL, LOC102725112
  • rs16921209 Coronary artery aneurysm in Kawasaki disease
• 10p13, reported and mapped gene CAMK1D
  • rs7902334 Coronary artery aneurysm in Kawasaki disease
• 10q24.32, reported and mapped gene CNNM2
  • rs12411886
  • rs12413409 Intracranial aneurysm
• 10q26.11, reported and mapped gene GRK5
  • rs17098586 Coronary artery aneurysm in Kawasaki disease
• 11p15.1, reported and mapped gene NAV2
  • rs12799264 Coronary artery aneurysm in Kawasaki disease
• 11p15.5, reported and mapped gene BET1L
  • rs2280543 Intracranial aneurysm
• 12q13.3, reported and mapped gene LRP1
  • rs1385526 Abdominal aortic aneurysm
  • rs1466535 Abdominal aortic aneurysm
• 12q21.31, reported and mapped gene TMTC2
  • rs12810016 Coronary artery aneurysm in Kawasaki disease
• 12q24.12, reported and mapped
  • rs671 Intracranial aneurysm
• 13q12.11 reported and mapped genes LINC00540, LOC107984599
  • rs9316871 Abdominal aortic aneurysm
• 13q12.11, reported and mapped genes TUBA3C, LOC101928697
  • rs17076896 Coronary artery aneurysm in Kawasaki disease
• 13q13.1, reported and mapped gene STARD13-KL
  • rs9315204 Intracranial aneurysm
  • rs1980781
  • rs3742321
• 14q21.1, reported and mapped gene FOXA1, SSTR1, LOC100652860, LINC00517, LOC105370456
  • rs12590437 Coronary artery aneurysm in Kawasaki disease
• 14q24.3, reported and mapped gene NRXN3
  • rs11624704 Coronary artery aneurysm in Kawasaki disease
• 14q32.12, reproted and mapped gene LINC00521
  • rs4905138 Coronary artery aneurysm in Kawasaki disease
• 15q21.1, reported and mapped gene FBN1
  • rs595244 Intracranial, abdominal aortic or thoracic aortic aneurysm (pleiotropy)
  • rs1036476
• 15q26.1, reported and mapped gene MESP2
  • rs12900413 Coronary artery aneurysm in Kawasaki disease
• 18q11.2, reported and mapped genes RBBP8, RPS4XP18, RNU6-1032P
  • rs4800418
  • rs8087799 Intracranial, abdominal aortic or thoracic aortic aneurysm (pleiotropy)
  • rs11661542 Intracranial aneurysm
  • rs11662668
• 18q12.3, reported and mapped gene SETBP1
  • rs17782904 Coronary artery aneurysm in Kawasaki disease
• 19p13.2, reported and mapped gene LDLR
  • rs6511720 Abdominal aortic aneurysm
• 20p12.1, reported and mapped gene MACROD2
  • rs1233754 Coronary artery aneurysm in Kawasaki disease
• 20p12.3, reported and mapped genes FERMT1, LRRN4
  • rs6516091 Abdominal aortic aneurysm
• 20q13.12, reported and mapped genes ZNF335, PCIF1, MMP9
  • rs58749629 Abdominal aortic aneurysm
• 20q13.2, reported and mapped gene TSHZ2
  • rs1293386 Coronary artery aneurysm in Kawasaki disease
• 21q22.2, reported and mapped gene ERG
  • rs2836411 Abdominal aortic aneurysm

GWAS Publications

[PMID 27899403] Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci

[PMID 27418160] Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms.

[PMID 27171184] Genome-Wide Association Study Identifies Novel Susceptibility Genes Associated with Coronary Artery Aneurysm Formation in Kawasaki Disease.

[PMID 26434682] Genetic variants in PLCB4/PLCB1 as susceptibility loci for coronary artery aneurysm formation in Kawasaki disease in Han Chinese in Taiwan.

[PMID 26186006] Genetic Variants Underlying Risk of Intracranial Aneurysms: Insights from a GWAS in Portugal.