Correlation Between AQP-4 Gene Polymorphism And Cerebral Small Vessel Disease In The Tibetan Population In Qinghai

Objective: To analyze the distribution of genotypes and allele frequencies of Aqua Porin-4(AQP-4)single nucleotide polymorphism(SNP)rs9951307 and rs2075575 in case group and control group.Differences were used to investigate the association between AQP-4 gene polymorphism and cerebral small vessel disease in Tibetan population in Qinghai.Methods: According to the inclusion and exclusion criteria,40 Tibetan cerebral small vessel disease patients and Tibetans with healthy physical examination were included..After obtaining the consent of all subjects,and sign the informed consent.Analyze the general characteristics of all research subjects,the blood samples and general characteristics of the subjects were collected and the DNA was extracted.The DNA content of the sample and the PCR-LDR experiment were carried out.Finally,the AQP-4 of the research object was genotyped,and the genotype and allele of the AQP-4 gene SNP rs9951307 and rs2075575 were detected.Finally,through statistical analysis,it is speculated that the single nucleotide polymorphism of AQP-4 gene is associated with Tibetan cerebral small vessel disease in Qinghai.Results: The distribution of rs99510307 and rs2075575 gene polymorphisms in case group and control group were in accordance with Hardy-Weinberg equilibrium law(HWE)(p>0.05).1.There are significant differences in the distribution of CT,TT,and CC genotypes of rs9951307 between the case group and the control group(p=0.022).The allele frequency between the case group and the control group There was a statistical difference(p=0.020),and the frequency of allele T in the case group was significantly higher than that of the healthy control group.The allele T was a pathogenic gene(OR=0.458,95% CI=0.235-0.890);rs9951307 gene polymorphisms are dominant(TT+TC: CC),recessive(CC+TC: TT),and additive(CT:TT:CC).Both the model(p=0.006)and the additive model(p=0.022)were statistically significant,of which the recessive model(TT:CC+TC)had a strong correlation with cerebrovascular disease(OR=0.458,95% CI=0.235-0.890).2.There were no significant differences in the distribution of CT,TT,and CC genotypes of rs2075575 between the case group and the control group(p=0.313).There was no statistical difference between the frequency of allele C and the allele T in the two groups(p=0.130).The two groups were in a dominant model(p=0.171),a recessive model(p=0.305),and an additive model(p=0.313)There was no statistical difference in the comparison.This result indicates that the rs2075575 gene polymorphism is unlikely to be associated with cerebrovascular disease.Conclusion: The results of this study indicate that the AQP-4 SNP rs9951307 gene polymorphism in Tibetan population in Qinghai is associated with cerebral small vessel disease,and the allele T at this site may increase the risk of cerebrovascular disease;The AQP-4 SNP rs2075575 gene polymorphism may not be associated with cerebral small vessel disease.