| BACKGROUNDIntracranial aneurysm(IAs)is caused by the dual role of genetic and environmental factors resulting in the limited expansion of the arterial wall,which further the development of tumor-like processes.It is the main cause of subarachnoid hemorrhage(SAH).In addition,IAs can cause intratumor and distal thromboembolism and/or mass effect.The basic mechanisms of aneurysm include apoptosis,inflammation and proteolysis.At present,the mechanism of this disease is not fully studied.Although a large number of studies have indicated that there is a correlation between human susceptibility genes and the occurrence and development of IAs.The correlation between human chromosomes 9p21 and IAs is mainly derived from CDKN2A,CDKN2B and CDKN2BAS.At present,CDKN2BAS gene is considered as a risk locus for prostate cancer,gastric cancer,pancreatic cancer,ovarian cancer,leukemia and glioma,and also has a high correlation with IAs.The single nucleotide polymorphisms(SNPs)of CDKN2BAS:rs1333040,rs6475606 and rs10757272,are the three sites confirmed by foreign researchers to have the highest correlation with IAs.Because of differences in living environment,ethnicity and life style,different genes may exert different effects on the same disease in different population,therefore,whether CDKN2BAS gene polymorphism is associated with sporadic IAs in Chinese Han population is an important goal of this study.Part1 Analysis of the clinical features of IAs patients in Chinese HannationalityOBJECTIVE:To analyze the clinical features of Chinese Han population suffering from IAs,providing guidance for the prevention and treatment of IAs.METHODS:Through collection of IAs patients admitted to the hospital during the same period,all IAs diagnoses were confirmed by at least one of technology:computed tomography angiography(CTA),magnetic resonance angiography(MRA)or digital subtraction angiography(DSA),and patients receiving craniotomy or interventional embolization again confirm the correctness of diagnosis.The patient's sex,age,lifestyle(smoking,drinking,high blood pressure,diabetes),aneurysm location,size and number of aneurysms were recorded in detail.RESULT:The study included a total of 200 cases of IAs patients,including 77 male and 123 female;smokers in a total of 43 cases;drinkers in 44 cases;history of hypertension in 59 cases;history of hyperglycem IAs in 24 cases;aneurysms located in the anterior cerebral artery(anterior cerebral artery(ACA)in 41 cases,anterior communicating artery(ACoA)in 16 cases,internal carotid artery(ICA)and posterior communicating artery(PCoA)in 90 cases,10 cases of middle cerebral artery(MCA)and 32 cases of posterior cerebral artery(PCA).130 patients had one IAs,35 patients had two IAs,21 patients had three IAs,and 14 patients had more than three IAs.CONCLUSION:In China,the number of women with IAs is about 1.6 times that of men;IAs mostly occurs in ACA,ICA and PCoA.Part2 CDKN2BAS gene polymorphisms and the risk of intracranialaneurysm in the Chinese populationOBJECTIVE:We hope that specific experiments confirmed the CDKN2BAS gene polymorphism and the relationship between IAs patients in China.METHODS:We selected a total of 200 patients with IAs eligible for inclusion and 200 patients with non-IAs.CDKN2BAS SNPs typing was detected by polymerase chain reaction(PCR)-lactase detection reaction(LDR):rs6475606,Rs1333040,rs10757272,rs3217992,rs974336,rs3217986,rs1063192.Differences in allele frequencies and genotype frequencies between experimental and control groups were assessed by chi-square test or Fisher's exact test.RESULT:The genotype frequencies of rsl333040 and rs6475606 in experimental group and control group were different;allele C of rs6475606 could reduce the occurrence of IAs;rsl333040 and rs6475606 are associated with IAs bleeding,and allele C of rs1333040 can reduce bleeding;rs1333040 is also related to the size of aneurysms.CONCLUSION:The SNPs rs1333040 and rs6475606 of CDKN2BAS gene are correlated with the occurrence of sporadic IAs in China. |
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