Abstract：【Objective】 To investigate the relationship between 14 gene loci related to risk factors such as diabetes and obesity and carotid artery stenosis. 【Methods】A total of 196 patients with carotid artery stenosis (observation group) admitted to the neurosurgery department of our hospital were selected. The carotid artery stenosis was diagnosed by CTA or DSA. A total of 360 volunteers (control group) who underwent physical examination in our hospital during the same period were selected. 14 loci of 12 genes,including CAMTA1,SLC30A8,CDKN2A/B,TCF7L2,SLC2A9,IGF1,PDGFB,FTO,KCNJ15,ESR1,were genotyped. The differences in SNP locus gene frequencies between the two groups were compared by Pearson χ2. 【Results】 The analysis of 14 candidate SNP loci showed that the frequency of ESR1 rs722208 allele G in the observation group was higher than that in the control group (P=0.019),and the frequency of KCNJ15 rs3746876 allele T was higher than that in the control group (P=0.034). In this study,115 patients with unilateral carotid artery stenosis and 81 patients with bilateral carotid artery stenosis were observed in the observation group. Further analysis was made on the association between the genotype of ESR1 rs722208 and KCNJ15 rs3746876 and the number of carotid artery lesions. There was significant difference between patients with bilateral carotid artery stenosis and the control group ESR1 rs722208 (P=0.007,OR=1.628,95%CI:1.139~2.326) and KCNJ15 rs3746876 (P=0.026,OR=1.809,95%CI:1.066~3.073) (P<0.05). 【Conclusion】ESR1 rs722208 and KCNJ15 rs3746876 mutations may be related to the occurrence and development of carotid artery stenosis.
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