Zhonghua yi xue za zhi · 2012
[Association between polymorphisms of Pen2 gene and late onset Alzheimer's disease].
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Jia Long-fei, Lü Ji-hui, Ma Zhong-hua
Аннотация
OBJECTIVE: To explore the association between single nucleotide polymorphisms (SNPs) in Pen2 gene and late onset Alzheimer's disease (LOAD) in North Chinese population.
METHODS: The genotypes of ApoE and Pen2 gene were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing respectively in 480 LOAD patients and 480 healthy controls. The strength of association between polymorphisms and AD was estimated with odds ratios (OR).
RESULTS: The genotype of IVS2 + 335T < A was obtained. There was an association between IVS2 + 335T < A and apolipoprotein E (ApoE) genotypes (P = 0.002). In the subjects with APOEε 4 allele, there were significant differences in the distribution of alleles (P = 0.003) and genotypes (P = 0.007) between AD and control groups. The ORs (95% confidence interval (CI)) of allele A and T/A + A/A genotypes were 4.720 (1.517 - 10.654) and 3.886 (1.381 - 10.932) respectively with allele T and genotype T/T as references.
CONCLUSION: An association exists between IVS2 + 335T < A and the development of LOAD in ApoEε 4 carriers within the northern Chinese population. And allele A of Pen 2 gene may increase the risk for LOAD.
METHODS: The genotypes of ApoE and Pen2 gene were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing respectively in 480 LOAD patients and 480 healthy controls. The strength of association between polymorphisms and AD was estimated with odds ratios (OR).
RESULTS: The genotype of IVS2 + 335T < A was obtained. There was an association between IVS2 + 335T < A and apolipoprotein E (ApoE) genotypes (P = 0.002). In the subjects with APOEε 4 allele, there were significant differences in the distribution of alleles (P = 0.003) and genotypes (P = 0.007) between AD and control groups. The ORs (95% confidence interval (CI)) of allele A and T/A + A/A genotypes were 4.720 (1.517 - 10.654) and 3.886 (1.381 - 10.932) respectively with allele T and genotype T/T as references.
CONCLUSION: An association exists between IVS2 + 335T < A and the development of LOAD in ApoEε 4 carriers within the northern Chinese population. And allele A of Pen 2 gene may increase the risk for LOAD.