<p>Genetic polymorphisms in <em>Sox17</em> associated with intracranial aneurysm in Chinese Han people: a genotype-phenotype study</p>

Abstract

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.

Genetic polymorphisms and transcription profiles associated with intracranial aneurysm: a key role for NOTCH3

“…The primers and probes were designed by the Laboratory of the Government Chemist (LGC) (Supplementary Table 4). The DNA of blood samples of IA patients (n=594) and control subjects (n=600) sourced from our previous studies [32, 58]. The Sequencing data was analyzed by PLINK (Version 1.9) [59].…”