Association Between Chromosome 9P21.3 RS1333049 Single Nucleotide Polymorphism And Late-onset Alzheimer Disease In Chinese Han Population

ObjectiveTo explore whether there is an association between rs1333049 single nucleotide polymorphism at Chromosome 9p21.3 and late-onset Alzheimer's Disease (LOAD) in Chinese han population. To further speculate the etiology and pathogenesis of LOAD with purpose of providing new clues for early diagnosis and treatment.MethodsA case-control study was taken from 266 LOAD patients and 323 controls. The polymorphism of rs1333049 at chromosome 9p21.3 was detected by using polymerase chain reaction (PCR) and matrix-assisted laser desorption/ionization time of flightmass spectrometry (MALDI-TOFMS), and the relation between rs1333049 polymorphism and LOAD was analyzed by Chi-square test and logistic regression. ApoE gene polymorphism was detected using multiplex amplification mutation system PCR (Multi-ARMS).Results1. The differences in sex, age, diastolic blood pressure, systolic blood pressure, BMI, fasting glucose, total cholesterol, triglycerides, LDL cholesterol and HDL cholesterol did not have statistical significance(p>0.05). Alleleε4 of ApoE was observed to be significantly higher in LOAD than in controls (P<0.001).2.The differences of both genotype frequency and allele frequency were statistical significance between LOAD and controls(χ2=6.26, P=0.04;χ2=5.39, OR=1.31, 95%CI=1.04-1.65, P=0.02 ). 3. The statistical significance was also found in differences of frenquency of genotype and allele between LOAD and controls in ApoEε4(-) after samples were stratified by apolipoprotein E (ApoE)ε4 (χ2=8.48, P=0.01;χ2=6.35, OR=1.47, 95%CI=1.09-1.98, P=0.01). The differences of frenquency of genotype and allele were not statistical significance between LOAD and controls in ApoEε4(+) subgroup(χ2=1.86,P=0.40;χ2=0.26,OR=1.11,95%CI=0.75-1.65,P=0.61).4. After adjusted for sex, age, BMI, blood pressure values, fasting glucose levels, lipid levels, and the carriage of at least one ApoEε4 allele, Logistic regression analysis demonstrated the distribution difference in two groups was also statistical significance in dominant model and additive model (OR=1.83, 95%CI=1.17-2.86, Wald =6.97, P<0.01; OR=1.83, 95%CI=0.84-1.94, Wald=5.40, P=0.02), indicating that C allele increased the susceptibility of LOAD .ConclusionOur findings suggest that the association may be existed between single nucleotide polymorphism rs1333049 at Chromosome 9p21.3 and LOAD in the Han Chinese population, and C allele may increase the risk of the development of LOAD.