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Gene polymorphism in apolipoprotein E and presenilin-1 in patients with late-onset Alzheimer's disease.
Chin Med J (Engl) 2000; 113(4):340-4CM

Abstract

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 epsilon 3/4 genotype and epsilon 4 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 epsilon 4 allele was associated with a tripling of risk for late-onset AD compared with that with no epsilon 4 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 epsilon 4 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 epsilon 4 and IE1 G alleles associated with AD.

CONCLUSION

apoE epsilon 4 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 epsilon 4 and IE1 G/G genotype. The PS-1/1 genotype is weakly associated with late-onset AD.

Authors+Show Affiliations

Molecular Unit, Union Hospital, Tongji Medical University, Wuhan 430022, China. tianpencui@hotmail.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

11775232

Citation

Cui, T, et al. "Gene Polymorphism in Apolipoprotein E and Presenilin-1 in Patients With Late-onset Alzheimer's Disease." Chinese Medical Journal, vol. 113, no. 4, 2000, pp. 340-4.
Cui T, Zhou X, Jin W, et al. Gene polymorphism in apolipoprotein E and presenilin-1 in patients with late-onset Alzheimer's disease. Chin Med J. 2000;113(4):340-4.
Cui, T., Zhou, X., Jin, W., Zheng, F., & Cao, X. (2000). Gene polymorphism in apolipoprotein E and presenilin-1 in patients with late-onset Alzheimer's disease. Chinese Medical Journal, 113(4), pp. 340-4.
Cui T, et al. Gene Polymorphism in Apolipoprotein E and Presenilin-1 in Patients With Late-onset Alzheimer's Disease. Chin Med J. 2000;113(4):340-4. PubMed PMID: 11775232.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Gene polymorphism in apolipoprotein E and presenilin-1 in patients with late-onset Alzheimer's disease. AU - Cui,T, AU - Zhou,X, AU - Jin,W, AU - Zheng,F, AU - Cao,X, PY - 2002/1/5/pubmed PY - 2002/2/8/medline PY - 2002/1/5/entrez SP - 340 EP - 4 JF - Chinese medical journal JO - Chin. Med. J. VL - 113 IS - 4 N2 - 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 epsilon 3/4 genotype and epsilon 4 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 epsilon 4 allele was associated with a tripling of risk for late-onset AD compared with that with no epsilon 4 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 epsilon 4 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 epsilon 4 and IE1 G alleles associated with AD. CONCLUSION: apoE epsilon 4 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 epsilon 4 and IE1 G/G genotype. The PS-1/1 genotype is weakly associated with late-onset AD. SN - 0366-6999 UR - https://www.unboundmedicine.com/medline/citation/11775232/Gene_polymorphism_in_apolipoprotein_E_and_presenilin_1_in_patients_with_late_onset_Alzheimer's_disease_ L2 - https://medlineplus.gov/alzheimersdisease.html DB - PRIME DP - Unbound Medicine ER -