摘要
Objective To evaluate the association of apolipoprotein E (apoE) and presenilin 1 (PS 1) gene polymorphism with late onset Alzheimer's disease (AD) Methods A case control study was undertaken to detect the polymorphism of apoE and PS 1 by polymerase chain reaction and digestion with the endonucleases of BspL Ⅰ, Hha Ⅰ and BamH Ⅰ Results The frequencies of apoE ε3/4 genotype and ε4 allele in late onset AD (n=42) were significantly higher than those of age matched controls ( P <0 05) The frequencies of the apoE intron 1 enhancer (IE1) G/G genotype and G allele in late onset AD were also significantly higher than those in controls ( P <0 05) The frequencies of the PS 1 1/1 genotype but not the 1 allele in AD were significantly higher than those in controls ( P <0 05) The apoE ε4 allele was associated with a tripling of risk for late onset AD compared with that with no ε4 allele (odds ratio: 2 932) Homozygosity of the G allele in IE1 and 1/1 genotype in PS 1 was associated with a doubling of risk for late onset AD, and odds ratios were 2 223 and 2 066, respectively When the apoE ε4 was controlled, the association between the IE1 G/G genotype AD was no longer statistically significant ( P >0 05) We sequenced the exon 4 of apoE in patients with late onset AD, and found no other genetic polymorphism or mutation except for apoE ε4 and IE1 G alleles associated with AD Conclusion apoE ε4 gene appears to be the strongest gene risk factor for late onset AD and its apparent association between the IE1 G/G genotype and late onset AD is a consequence of the association between the ε4 and IE1 G/G genotype The PS 1/1 genotype is weakly associated with late onset AD
Objective To evaluate the association of apolipoprotein E (apoE) and presenilin 1 (PS 1) gene polymorphism with late onset Alzheimer's disease (AD) Methods A case control study was undertaken to detect the polymorphism of apoE and PS 1 by polymerase chain reaction and digestion with the endonucleases of BspL Ⅰ, Hha Ⅰ and BamH Ⅰ Results The frequencies of apoE ε3/4 genotype and ε4 allele in late onset AD (n=42) were significantly higher than those of age matched controls ( P <0 05) The frequencies of the apoE intron 1 enhancer (IE1) G/G genotype and G allele in late onset AD were also significantly higher than those in controls ( P <0 05) The frequencies of the PS 1 1/1 genotype but not the 1 allele in AD were significantly higher than those in controls ( P <0 05) The apoE ε4 allele was associated with a tripling of risk for late onset AD compared with that with no ε4 allele (odds ratio: 2 932) Homozygosity of the G allele in IE1 and 1/1 genotype in PS 1 was associated with a doubling of risk for late onset AD, and odds ratios were 2 223 and 2 066, respectively When the apoE ε4 was controlled, the association between the IE1 G/G genotype AD was no longer statistically significant ( P >0 05) We sequenced the exon 4 of apoE in patients with late onset AD, and found no other genetic polymorphism or mutation except for apoE ε4 and IE1 G alleles associated with AD Conclusion apoE ε4 gene appears to be the strongest gene risk factor for late onset AD and its apparent association between the IE1 G/G genotype and late onset AD is a consequence of the association between the ε4 and IE1 G/G genotype The PS 1/1 genotype is weakly associated with late onset AD
