Abstract
The objective of this experiment was to observe the allele frequency and genotype distribution of some 9p21 SNPs in the Anhui Han population, and to study its relationship with the susceptibility to ischemic stroke. For this purpose, a collection of 992 patients with ischemic stroke confirmed and hospitalized in our hospital from October 2017 to October 2020 were used as the IS case group, and 951 normal people who had a healthy physical examination in the physical examination center of our hospital during the same period were selected as the control group. After informed consent, cubital venous blood of all subjects was collected, and epidemiological data of the subjects were collected; the rs2383206, rs2383207, rs10757274, and rs1333049 on chromosome 9p21 as the sites to be tested, using Sequenom Mass Array system for genotyping, using Haploview4.2 software to calculate whether the genotype distribution meets Hardy-Weinberg equilibrium. Results showed that there were no significant differences between the two groups in gender, age, and smoking history. There are significant differences in the levels of hypertension, diabetes and hyperlipidemia, total cholesterol, triglycerides, HDL-C and apolipoprotein A1 between the two groups of study subjects. The genotype frequencies of the participating populations were in a balanced state. The results of the association analysis between SNPs and IS susceptibility showed that rs2383207, rs10757274, rs1333049 and rs2383206 are the susceptibility sites of ischemic stroke. It concluded that in Anhui, China, the inheritance of chromosome 9p21 region is associated with ischemic stroke.
Highlights
As a group of acute cerebrovascular diseases with high mortality and high disability characterized by focal neurological function loss, stroke has become a major disease seriously threatening human health, which can be divided into hemorrhagic disease and ischemic disease
Comparison of general data of subjects The comparison results of the general situation between the control group and the IS case group showed that the IS case group accounted for 66.9% males, with an average age of 61.7±12.9 years, while the control group accounted for 63.9% males, with an average age of 60.8±10.3 years
Ischemic stroke accounted for about 80% of the total incidence of cerebral apoplexy, influenced by heredity, environment and the interaction of vascular risk factors and cause a variety of factors of complex diseases [27], about half of the disease can be explained by traditional risk factors, such as ischemic heart disease, hypertension, diabetes, dyslipidemia, smoking, and atrial fibrillation
Summary
As a group of acute cerebrovascular diseases with high mortality and high disability characterized by focal neurological function loss, stroke has become a major disease seriously threatening human health, which can be divided into hemorrhagic disease and ischemic disease. Studies have shown that genetic and environmental factors play an important role in the occurrence and development of stroke [4,5,6,7,8,9]. Cardiovascular disease [11], ischemic stroke [12], aortic aneurysm [13], intracranial aneurysm [14], primary open-angle glaucoma [15], type 2 diabetes mellitus [16], glioma [17] and tumor susceptibility [18,19,20,21], suggesting the existence of important unstable loci on chromosome 9p21. This study aimed to observe the allele frequency and genotype distribution of some SNPs of 9p21 in the Anhui Han population and to investigate their relationship with the susceptibility to ischemic stroke
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