Genetic polymorphisms in Sox17 associated with intracranial aneurysm in Chinese Han people: a genotype-phenotype study
Received 7 November 2018
Accepted for publication 19 February 2019
Published 2 April 2019 Volume 2019:15 Pages 779—783
Checked for plagiarism Yes
Review by Single anonymous peer review
Peer reviewer comments 2
Editor who approved publication: Dr Yuping Ning
Mengqi Li,1,2,* Weihan Wang,1,2,* Lin Zhang,3,* Wenqiang Xin,1,2,* Yan Zhao,1,2 Linchun Huan,4 Jianjun Yu,4 Hao Zhang,1,2 Jianning Zhang,1,2 Shuyuan Yang,1,2 Degang Liang,5,* Weidong Yang,1,2,* Xinyu Yang1,2,*
1Department of Neurosurgery, Tianjin Medical University General Hospital, Tianjin, People’s Republic of China; 2Key Laboratory of Post-Neurotrauma Neurorepair and Regeneration in Central Nervous System, Ministry of Education in China and Tianjin, Tianjin Neurological Institute, Tianjin, People’s Republic of China; 3Department of Neurosurgery, Linyi People’s Hospital, Shandong, People’s Republic of China; 4Department of Cardio-Thoracic Surgery, Tianjin Medical University General Hospital, Tianjin, People’s Republic of China; 5Department of Neurosurgery, Tianjin Fifth Central Hospital, Tianjin, People’s Republic of China
*These authors contributed equally to this work
Purpose: Genetic factors play a vital role in intracranial aneurysm (IA) onset and development. Studying the relationship between IA and the Sox17 polymorphisms in diverse populations is essential for establishing credibility.
Patients and methods: We collected blood samples derived from a total of 596 sporadic IA patients and 600 individual controls in several medical institutes in China. We used the Sequenom MassArray system for single nucleotide polymorphisms (SNPs) genotyping after DNA extraction. The SNPs data was tested and analyzed in PLINK (version 1.9). Multiple-testing was performed in PLINK to make the statistics more rigorous and accurate.
Results: We found that the allelic G of rs1072737 (OR=1.303, genomic-control corrected P-value =0.001032) is a risk allele, while the allelic G of rs9298506 (OR=0.7253, genomic-control corrected P-value =0.01559) is a protective allele in Chinese Han people.
Conclusion: The allelic G of rs1072737 is a risk factor for IA, while the allelic G of rs9298506 serves as a protective factor for IA in Chinese Han people.
Keywords: intracranial aneurysm, Sox17, genetics, cerebral vascular disease
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