Abstract
The single nucleotide polymorphisms (SNPs) rs449647, rs769446 and rs405509 in the promoter region of the APOE gene have been variously suggested to be e4-independent risk factors for Alzheimer's disease (AD). A previous Italian study found that the rs449647 was significantly associated with late-onset AD. The aim of this study was to verify whether these APOE promoter SNPs are genetic risk factors for AD and to investigate their interaction with the common APOE polymorphism. A total of 169 clinically diagnosed AD patients and 99 cognitively intact age-matched controls were included in the study. Significant associations with AD independent from sex, age and APOE/e4 status were found for rs449647 A/A and rs405509 G/G genotypes (positive), and rs449647 A/T and rs405509 T/T genotypes (negative). Haplotype frequency estimation at the APOE locus showed significant associations for the ATG4, ATT4 and ACG3 (positive) and ATT2, ATT3 and TCG3 (negative) haplotypes. Therefore this study confirms the role of the rs449647 A/A genotype as risk factor for AD in Italy and suggests that promoter genotypes and APOE haplotypes might have a complex function in AD-associated genetic risk factors.
| Original language | English |
|---|---|
| Pages (from-to) | 938-945 |
| Number of pages | 8 |
| Journal | European Journal of Human Genetics |
| Volume | 17 |
| Issue number | 7 |
| DOIs | |
| Publication status | Published - 2009 |
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ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
The complex interaction between APOE promoter and AD : An Italian case-control study. / Bizzarro, Alessandra; Seripa, Davide; Acciarri, Adele; Matera, Maria Giovanna; Pilotto, Alberto; Tiziano, Francesco Danilo; Brahe, Christina; Masullo, Carlo.
In: European Journal of Human Genetics, Vol. 17, No. 7, 2009, p. 938-945.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - The complex interaction between APOE promoter and AD
T2 - An Italian case-control study
AU - Bizzarro, Alessandra
AU - Seripa, Davide
AU - Acciarri, Adele
AU - Matera, Maria Giovanna
AU - Pilotto, Alberto
AU - Tiziano, Francesco Danilo
AU - Brahe, Christina
AU - Masullo, Carlo
PY - 2009
Y1 - 2009
N2 - The single nucleotide polymorphisms (SNPs) rs449647, rs769446 and rs405509 in the promoter region of the APOE gene have been variously suggested to be e4-independent risk factors for Alzheimer's disease (AD). A previous Italian study found that the rs449647 was significantly associated with late-onset AD. The aim of this study was to verify whether these APOE promoter SNPs are genetic risk factors for AD and to investigate their interaction with the common APOE polymorphism. A total of 169 clinically diagnosed AD patients and 99 cognitively intact age-matched controls were included in the study. Significant associations with AD independent from sex, age and APOE/e4 status were found for rs449647 A/A and rs405509 G/G genotypes (positive), and rs449647 A/T and rs405509 T/T genotypes (negative). Haplotype frequency estimation at the APOE locus showed significant associations for the ATG4, ATT4 and ACG3 (positive) and ATT2, ATT3 and TCG3 (negative) haplotypes. Therefore this study confirms the role of the rs449647 A/A genotype as risk factor for AD in Italy and suggests that promoter genotypes and APOE haplotypes might have a complex function in AD-associated genetic risk factors.
AB - The single nucleotide polymorphisms (SNPs) rs449647, rs769446 and rs405509 in the promoter region of the APOE gene have been variously suggested to be e4-independent risk factors for Alzheimer's disease (AD). A previous Italian study found that the rs449647 was significantly associated with late-onset AD. The aim of this study was to verify whether these APOE promoter SNPs are genetic risk factors for AD and to investigate their interaction with the common APOE polymorphism. A total of 169 clinically diagnosed AD patients and 99 cognitively intact age-matched controls were included in the study. Significant associations with AD independent from sex, age and APOE/e4 status were found for rs449647 A/A and rs405509 G/G genotypes (positive), and rs449647 A/T and rs405509 T/T genotypes (negative). Haplotype frequency estimation at the APOE locus showed significant associations for the ATG4, ATT4 and ACG3 (positive) and ATT2, ATT3 and TCG3 (negative) haplotypes. Therefore this study confirms the role of the rs449647 A/A genotype as risk factor for AD in Italy and suggests that promoter genotypes and APOE haplotypes might have a complex function in AD-associated genetic risk factors.
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UR - http://www.scopus.com/inward/citedby.url?scp=67649188778&partnerID=8YFLogxK
U2 - 10.1038/ejhg.2008.263
DO - 10.1038/ejhg.2008.263
M3 - Article
C2 - 19172988
AN - SCOPUS:67649188778
VL - 17
SP - 938
EP - 945
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 7
ER -