Human Genetics

, Volume 131, Issue 7, pp 1137–1143 | Cite as

A functional variant of the collagen type III alpha1 gene modify risk of sporadic intracranial aneurysms

  • Jingzhou Chen
  • Yufang Zhu
  • Yuhua Jiang
  • Hui Yu
  • Kai Sun
  • Weihua Song
  • Liming Luan
  • Kejia Lou
  • Youxiang Li
  • Peng JiangEmail author
  • Qi PangEmail author
  • Rutai HuiEmail author
Original Investigation


Abnormalities in type III collagen in the arterial walls cause certain familial intracranial aneurysms (IAs); however, it remains unknown whether COL3A1 variants contribute to the risk of sporadic IAs. To study whether COL3A1 variants are associated with sporadic IAs, the association of COL3A1 variants with sporadic IAs was tested in 298 cases and 488 controls, replicated in an independent population of 192 cases and 1,690 controls, and further verified in 633 patients with intra-cerebral hemorrhage, 1,074 hypertensives, and 1,883 controls. We found that allele A of SNP rs1800255 conferred a 1.71-fold increased risk for IAs (adjusted odds ratio: OR = 1.71, 95% confidence interval: CI 1.19–2.45, P = 0.004) and results in an amino acid change of Ala698Thr, which led to a lower thermal stability of the peptide. These results were confirmed in the independent study. The associations were independent of the presence of hemorrhagic stroke and hypertension. These results support the view that the functional variant of COL3A1 is genetic risk factors for IAs in the Chinese population.


Digital Subtraction Angiography Intracerebral Hemorrhage Intracranial Aneurysm Hemorrhagic Stroke Variant Rs1800255 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



We thank the DNA donors and the supporting medical staff for making this study possible. The study was supported by the International S&T Cooperation Program of China (ISTCP) (No. 2009DFB30050 to Hui Rutai) and the National Natural Science Foundation of China (No.30973109 to Pang Qi).

Supplementary material

439_2012_1138_MOESM1_ESM.doc (172 kb)
Supplementary material 1 (DOC 171 kb)


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Copyright information

© Springer-Verlag 2012

Authors and Affiliations

  1. 1.Sino-German Laboratory for Molecular Medicine, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Fuwai HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingPeople’s Republic of China
  2. 2.Department of SurgeryShandong Tumor HospitalJinanPeople’s Republic of China
  3. 3.Department of Interventional Neurosurgery, Beijing Neurosurgical Institute and Beijing Tiantan HospitalCapital Medical UniversityBeijingPeople’s Republic of China
  4. 4.Department of Neurosurgery, Shandong Provincial HospitalShandong UniversityJinanPeople’s Republic of China

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