Dissertation
Dissertation > Medicine, health > Neurology and psychiatry > Psychiatry > Cerebral organic mental disorder > Elderly as early as possible the old disorder

The Association Study of STH Q7R, IRP2 rs13180, CALHM1 rs2986017,GAB2 rs2373115 and GAB2 rs1385600 with Alzheimer Disease in Chinese Han Population

Author LinKangGuang
Tutor TangMouNi
School Guangzhou Medical College
Course Psychiatry and Mental Health
Keywords Chinese Han population Gene polymorphism Allele Alzheimer's disease Genotype Significant Caucasian Correlation Analysis Age of onset Cognitive impairment
CLC R749.16
Type Master's thesis
Year 2009
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Background: Alzheimer's disease (AD) is a degenerative disease of the central nervous system of primary, composed of nerve cells within the double helix microfilament neurofibrillary tangles (neurofibrillary tangles, NFTs) and amyloid the core of extracellular senile plaques (senile plaques, SP) as the main pathological features. So far, in the pathogenesis of AD is not yet elucidated. Now proves that some early-onset familial AD (EOFAD) was Mendelian autosomal dominant mode of inheritance, by the amyloid precursor protein gene (amyloid precursor protein, APP), Alzheimer 1 gene (presenilin 1, PS1) and Alzheimer's prime caused by mutations in two genes (presenilin 2, PS2). Generally considered late-onset AD (LOAD) is a polygenic disease, caused by the interaction of genetic and environmental factors, and heterogeneity in different ethnic groups (heterogeneous) larger. ApoEε4 allele is more recognized AD susceptibility genes, but it can only resolve about 20% of late-onset AD, prompted a new AD susceptibility genes remain to be found. Research Objective: Determine the Chinese Han population of AD susceptibility gene polymorphism in its relationship with AD, for a more detailed understanding of the pathogenesis of AD potential to provide the basis for molecular epidemiology and early AD The diagnosis and treatment of more molecular markers. Research Methods: A case - control study, polymerase chain reaction - restriction fragment length polymorphism detection of STH Q7R IRP2 rs13180 of CALHM1 rs2986017 and of GAB2 rs2373115 and rs1385600 gene polymorphism in Chinese Han population distribution, and to explore the relationship between the AD. : Distribution and AD of 1.STH Q7R gene polymorphism analysis of the control group were Q / Q genotype, one case of Q / R genotype in the AD group, the rest are Q / Q genotype. AD group and normal control group, of STH Q7R polymorphism distribution was no significant difference (P gt; 0.05). R allele frequency in the Chinese Han population and the Japanese population is relatively low, compared with African populations and Caucasian populations, and the difference was statistically significant (P lt; 0.05). 2. IRP2 rs13180 gene polymorphism distribution and correlation analysis of the AD) AD group and the control group, genotype and allele overall distribution differences not statistically significant (χ ~~ 2 values ??were 2.464 and 2.17, P are gt ; 0.05); AD patients divided into mild AD and moderate-to-severe AD dementia severity in severe AD group (209 cases) carrying T allele frequency was significantly higher than that of the control group (78.0% vs 69.8%, χ ~ 2 = 4.106, P lt; 0.05), logistic regression analysis showed that carry with T allele genotype had OR = 1.62 (95% confidence interval = 1.03 to 2.54). 2) severe AD patients with T / T genotype frequency (25.8%) and T allele frequency (51.9%) than in patients with mild AD (12.5% ??and 40.3%, respectively), the differences were statistically significant (χ ~ 2 values ??were 5.477 and 5.803, P lt; 0.05). 3) carrying T / T genotype in patients with AD MMSE score below the C / C and C / T genotype patients, the difference was statistically significant (P = 0.028 and 0.014, respectively). Group genotype frequencies of the correlation analysis 3.CALHM1 rs2986017 gene polymorphism and AD AD (χ ~~ 2 = 0.504, P = 0.777) and allele frequency (χ ~ 2 = 0.024, P = 0.878) and the control group comparison, the difference was not statistically significant (P gt; 0.05). Conditional Logistic regression analysis adjusted for gender, age and ApoE genotype still have not found the A / A and A / G genotype and the pathogenesis of AD association (P gt; 0.05). Analysis of variance showed that CALHM1 genotype on age of onset was not statistically significant (F = 0.950, P = 0.909). Correlation analysis (1) 4. GAB2 rs2373115 and rs1385600 gene polymorphism and AD AD group GAB2 rs2373115 genotype frequencies (χ ~~ 2 = 2.319; P = 0.314) and allele frequency (χ ~~ 2 = 0.602; P = 0.438) compared with the control group, the difference was not statistically significant. Further according to whether to carry ApoEε4 allele stratified, nor found that there is a statistically significant difference (P gt; 0.05). (2) AD group GAB2 rs1385600 genotype frequency (of χ ~~ 2 = 0.074; P = 0.963) and allele frequency (χ ~~ 2 = 0.050; P = 0.824) compared with control group, the difference was not statistically significant. Further according to whether to carry ApoEε4 allele stratified, nor found that there is a statistically significant difference (P gt; 0.05). Conclusion: 1 the STH Q7R sites: the frequency of the R allele in Chinese Han population than Caucasians and African population is low, there are large racial differences Q7R allele frequencies. Q7R sites with the Chinese Han population of Alzheimer's disease susceptibility has little to do. 2. IRP2 rs13180 point: the Chinese Han population IRP2 rs13180 loci associated with moderate to severe AD, the T / T genotype may be risk factors for cognitive impairment in AD patients. 3. CALHM1 rs2986017 locus: Chinese Han population of CALHM1 rs2986017 locus associated with AD. 4. GAB2 rs2373115 and rs1385600 locus: Chinese Han population the GAB2 rs2373115 and rs1385600 locus associated with AD.

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