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Linkage Disequilibrium Analysis of the Candidate Genes for Mental Retardation and Stroke

Author: SunZuo
Tutor: HeLin
School: Shanghai Institutes for Biological Sciences
Course: Neurobiology
Keywords: Mental Retardation Stroke Linkage Disequilibrium Analysis Chinese Han Popualtion
CLC: R743
Type: PhD thesis
Year: 2007
Downloads: 337
Quote: 2
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Abstract


This thesis uses the linkage disequilibrium analysis to study the candidate gens of two kinds of common diseases: mental retardation (MR) and stroke. In the study of MR, we investigated the POU1F1 gene, an important transcription factor in the hypothalamus-pituitary-thyroid gland axis and the RAB3A gene, a key molecule in modulating basal neurotransmission and synaptic plasticity. We performed case-control linkage disequilibrium studies in the Chinese Han population from Qin-Ba mountain region. For POU1F1, in females, we found significant differences between cases and controls in the allele frequency distribution of rs300996, snp-7057 (P=0.0001) and rs300977 (P=0.0005) respectively, and their combined haplotype (global P=0.0050). The P-value was 0.0301 for rs300996 and 0.0397 for the haplotype combination of rs300996-snp-7057-rs300977 in the analysis of the quantitative effects of the alleles and haplotypes on IQ in females. However, there were no significant differences with RAB3A detected in the same sample at all. Our data first suggest that POU1F1 may affect MR through a gender specific mechanism, but RAB3A doesn’t.ALOX5AP and PDE4D are promising candidate genes in relation to stroke, given its positional and functional involvement. In the linkage disequilibrium studies, we explored the role of these genes in the incidence of stroke in the Chinese Han population of eastern China. For ALOX5AP, in the analysis of the male group, SG13S114 showed significant differences between cases and controls (P=0.0295); the global P value for the frequencies of the haplotypes in snp-10267, SG13S377 SG13S114 and SG13S32 was 0.0239, and the frequency of haplotype G-G-T-C was higher in cases than in controls (P=0.0016). For PDE4D, in the analysis of the combined cardiogenic and carotid stroke group, both the allele (P=0.0060) and genotype (P=0.0160) frequencies between cases and controls at SNP83 showed significant differences; in the analysis of the small-artery occlusive stroke group, the global haplotype frequency in rs152312 and SNP56 showed significant differences between cases and controls (P=0.0034), and the frequency of haplotype C-A was higher in cases than in controls (P=0.0009). Our findings well support that both ALOX5AP and PDE4D are associated with an increased risk for ischemic stroke in the Chinese population.

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CLC: > Medicine, health > Neurology and psychiatry > Neurology > Cerebrovascular disease
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