Association Analysis Of CD40 Gene Rs1883832?rs4813003 Polymorphisms With Moyamoya Disease

Objective:The aim of this study was to investigate whether the CD40 rs1883832,rs4813003 are associated with MMD risk in patients with familial MMD and sporadic MMD.Methods:Select 209 familial MMD and 1,130 sporadic MMD of the Han nationality admitted to the fifth medical center of the general hospital of the people's liberation army during the period of 2004-2018.Clinical data were collected for all subjects,including gender,age,ethnicity,region,age of onset,first symptoms,Computed Tomography,Magnetic Resonance Imaging,Magnetic Resonance Imaging angiography,digital subtraction angiography,Computed Tomography angiography,and previous medical history.Blood samples of the patients were tested for biochemical indicators,DNA was extracted,and the Taqman probe genotyping method was used for real-time quantitative PCR to detect gene SNPs.Results:1.Familial moyamoya disease studies showed no statistical difference was found in the frequencies of the alleles and genotypes of CD40 gene rs1883832 and rs4813003 between the two groups(P> 0.05),under the additive model,dominant model and recessive model as well(P> 0.05).For CD40 rs1883832 polymorphism,significant difference was found in genotype distribution between ischemic MMD and healthy control group(P=0.042),but no significant difference in alleles.There was no significant difference in genotype distribution and alleles between hemorrhagic MMD and healthy control.For CD40 rs4813003 polymorphism,there was significant difference in genotype distribution between ischemic moyamoya disease and healthy control group(P=0.046),but no significant difference in alleles.There was significant difference in genotype distribution between hemorrhagic moyamoya disease and healthy control group(P=0.035),but no significant difference in alleles.There was statistically significant difference in genotype distribution between ischemic MMD and hemorrhagic MMD for CD40 rs1883832(P=0.031)and rs4813003(P=0.0001).However,no statistical difference was found on the onset age between the two groupsfor CD40 rs1883832(P=0.859)and rs4813003(P=0.066).2.Sporadic MMD study showed that no statistical difference was found in the distribution of the alleles and genotypes of CD40 gene rs1883832 and rs4813003 between the two groups(P> 0.05),under the additive model,dominant model and recessive model.For CD40 rs1883832,rs4813003 polymorphisms,there was no significant difference in genotype distribution and alleles between ischemic MMD and control group.No significant difference was found between hemorrhagic MMD and control?In patients with sporadic moyamoya disease,there was no significant difference in the genotype distribution of CD40 gene rs1883832 and rs4813003 polymorphisms between ischemic MMD and hemorrhagic MMD(P>0.05);patients<18 years old and patients ?18 years old(P>0.05);patients with hyperthyroidism and patients without hyperthyroidism(P>0.05).Conclusion:1.For familial MMD patients,CD40 rs1883832 and rs4813003 polymorphisms may be associated with hemorrhagic or ischemic MMD.2.CD40 rs1883832 and rs4813003 polymorphisms was not associated with the risk of sporadic moyamoya disease.